Variant report

Variant	nsv984570
Chromosome Location	chr5:176923414-176956300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3073)
CpG islands
(count:3176)
Chromatin interactive
region (count:106)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3073 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:176956263-176956519	K562	blood:	n/a	n/a
2	ARID3A	chr5:176924490-176924684	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:176943916-176944557	K562	blood:	n/a	n/a
4	ARID3A	chr5:176943848-176944548	HepG2	liver:	n/a	n/a
5	ATF1	chr5:176943855-176944555	K562	blood:	n/a	n/a
6	ATF1	chr5:176956284-176956828	K562	blood:	n/a	n/a
7	ATF2	chr5:176928844-176929633	GM12878	blood:	n/a	n/a
8	ATF2	chr5:176924266-176924732	GM12878	blood:	n/a	n/a
9	ATF2	chr5:176921224-176923982	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:176943774-176944606	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:176924022-176925268	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:176928067-176928420	GM12878	blood:	n/a	n/a
13	ATF2	chr5:176928855-176929817	GM12878	blood:	n/a	n/a
14	ATF2	chr5:176924690-176925099	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr5:176943695-176944421	GM12878	blood:	n/a	n/a
16	ATF2	chr5:176927895-176928619	GM12878	blood:	n/a	n/a
17	ATF2	chr5:176935779-176936300	GM12878	blood:	n/a	n/a
18	ATF2	chr5:176937122-176937820	GM12878	blood:	n/a	n/a
19	ATF2	chr5:176936491-176936988	GM12878	blood:	n/a	n/a
20	ATF2	chr5:176943793-176944519	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr5:176943697-176944607	A549	lung:	n/a	n/a
22	ATF3	chr5:176923700-176924121	K562	blood:	n/a	chr5:176923889-176923898
23	ATF3	chr5:176937326-176937551	GM12878	blood:	n/a	n/a
24	ATF3	chr5:176943700-176944305	A549	lung:	n/a	n/a
25	ATF3	chr5:176937231-176937619	GM12878	blood:	n/a	n/a
26	BACH1	chr5:176943954-176944250	K562	blood:	n/a	n/a
27	BACH1	chr5:176925369-176925443	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr5:176924523-176924598	K562	blood:	n/a	n/a
29	BACH1	chr5:176946558-176946780	K562	blood:	n/a	n/a
30	BACH1	chr5:176924140-176924237	K562	blood:	n/a	n/a
31	BACH1	chr5:176946543-176946783	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr5:176923800-176925011	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr5:176936758-176936958	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr5:176943751-176944487	H1-hESC	embryonic stem cell:	n/a	n/a
35	BATF	chr5:176929119-176929532	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:176928970-176929534	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:176928976-176929481	GM12878	blood:	n/a	n/a
38	BCL3	chr5:176943569-176944589	A549	lung:	n/a	n/a
39	BCL3	chr5:176955764-176956232	GM12878	blood:	n/a	n/a
40	BCL3	chr5:176924315-176924721	A549	lung:	n/a	chr5:176924318-176924331
41	BCL3	chr5:176924500-176924992	A549	lung:	n/a	chr5:176924816-176924829 chr5:176924870-176924883
42	BCL3	chr5:176927979-176929495	GM12878	blood:	n/a	n/a
43	BCL3	chr5:176924039-176924721	K562	blood:	n/a	chr5:176924318-176924331
44	BCL3	chr5:176943621-176944532	A549	lung:	n/a	n/a
45	BCL3	chr5:176955904-176956150	GM12878	blood:	n/a	n/a
46	BCLAF1	chr5:176927906-176928326	GM12878	blood:	n/a	n/a
47	BCLAF1	chr5:176927882-176928462	GM12878	blood:	n/a	n/a
48	BCLAF1	chr5:176928880-176929762	GM12878	blood:	n/a	n/a
49	BCLAF1	chr5:176943693-176944519	GM12878	blood:	n/a	n/a
50	BCLAF1	chr5:176924417-176924693	GM12878	blood:	n/a	n/a

(count:3176 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:176937527-176937577	SKMC	muscle:	n/a
2	chr5:176924899-176924949	SK-N-SH_RA	brain:	n/a
3	chr5:176944032-176944082	HCT-116	colon:	n/a
4	chr5:176944496-176944546	GM12878	blood:	n/a
5	chr5:176937527-176937577	SKMC	muscle:	n/a
6	chr5:176924899-176924949	SK-N-SH_RA	brain:	n/a
7	chr5:176944032-176944082	HCT-116	colon:	n/a
8	chr5:176944496-176944546	GM12878	blood:	n/a
9	chr5:176931111-176931161	MCF10A-Er-Src	breast:	n/a
10	chr5:176955302-176955352	HCPEpiC	choroid plexus:	n/a
11	chr5:176938522-176938572	A549	lung:	n/a
12	chr5:176944032-176944082	HepG2	liver:	n/a
13	chr5:176924578-176924628	Jurkat	blood:	n/a
14	chr5:176944156-176944206	NT2-D1	testis:	n/a
15	chr5:176936892-176936942	HCPEpiC	choroid plexus:	n/a
16	chr5:176944084-176944134	GM06990	blood:	n/a
17	chr5:176937446-176937496	AG10803	skin:	n/a
18	chr5:176936877-176936927	PrEC	prostate:	n/a
19	chr5:176940708-176940758	HRE	kidney:	n/a
20	chr5:176936877-176936927	HEEpiC	esophagus:	n/a
21	chr5:176937350-176937400	NHDF-neo	bronchial:	n/a
22	chr5:176930263-176930313	AG04450	lung:	fetal
23	chr5:176930263-176930313	HCT-116	colon:	n/a
24	chr5:176936563-176936613	ECC-1	luminal epithelium:	n/a
25	chr5:176931422-176931472	AG04450	lung:	fetal
26	chr5:176924848-176924898	HL-60	blood:	n/a
27	chr5:176930471-176930521	Caco-2	colon:	n/a
28	chr5:176935364-176935414	BE2_C	brain:	n/a
29	chr5:176930754-176930804	LNCaP	prostate:	n/a
30	chr5:176931422-176931472	Hela-S3	cervix:	n/a
31	chr5:176944034-176944084	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:176936882-176936932	NH-A	brain:	n/a
33	chr5:176943504-176943554	Jurkat	blood:	n/a
34	chr5:176944438-176944488	GM12891	blood:	n/a
35	chr5:176928448-176928498	AG10803	skin:	n/a
36	chr5:176931422-176931472	SKMC	muscle:	n/a
37	chr5:176924827-176924877	HCPEpiC	choroid plexus:	n/a
38	chr5:176931394-176931444	HUVEC	blood vessel:	n/a
39	chr5:176943764-176943814	HCF	heart:	n/a
40	chr5:176931394-176931444	BJ	skin:	n/a
41	chr5:176944032-176944082	SAEC	small airway:	n/a
42	chr5:176943526-176943576	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:176928448-176928498	GM12892	blood:	n/a
44	chr5:176943966-176944016	SKMC	muscle:	n/a
45	chr5:176944034-176944084	HepG2	liver:	n/a
46	chr5:176944204-176944254	NT2-D1	testis:	n/a
47	chr5:176940708-176940758	HAEpiC	amniotic membrane:	n/a
48	chr5:176924420-176924470	AG09309	skin:	n/a
49	chr5:176938866-176938916	RPTEC	kidney:	n/a
50	chr5:176938148-176938198	AG04450	lung:	fetal

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:176922387..176924706-chr5:176979914..176982502,2	MCF-7	breast:
2	chr20:442837..443546-chr5:176924358..176925028,2	HCT-116	colon:
3	chr5:176953962..176956873-chr5:176957171..176958842,2	MCF-7	breast:
4	chr5:176830443..176832059-chr5:176927149..176928539,8	K562	blood:
5	chr5:176735682..176745085-chr5:176921866..176925758,11	K562	blood:
6	chr5:176924023..176924668-chr5:176942297..176943281,2	K562	blood:
7	chr5:176923072..176926532-chr5:176980245..176983139,4	K562	blood:
8	chr1:210546859..210547614-chr5:176943573..176944154,3	Hela-S3	cervix:
9	chr5:176817440..176818117-chr5:176927666..176928401,2	MCF-7	breast:
10	chr5:176952479..176954800-chr5:176962757..176966285,3	MCF-7	breast:
11	chr5:176947685..176950856-chr5:176963857..176966893,4	MCF-7	breast:
12	chr5:176928239..176929895-chr5:177020806..177023092,2	MCF-7	breast:
13	chr5:176738003..176740691-chr5:176923157..176926239,4	MCF-7	breast:
14	chr5:176948308..176950710-chr5:176962815..176964819,2	K562	blood:
15	chr5:176942293..176944420-chr5:177019101..177021147,2	MCF-7	breast:
16	chr5:176923028..176926285-chr5:177025596..177029619,3	MCF-7	breast:
17	chr5:176924023..176924668-chr5:176942297..176943281,2	K562	blood:
18	chr5:176918064..176919206-chr5:176927577..176928653,10	K562	blood:
19	chr5:176951222..176953772-chr5:177019144..177020770,2	MCF-7	breast:
20	chr5:176941971..176944172-chr5:177027173..177028744,2	MCF-7	breast:
21	chr5:176922985..176925564-chr5:177025681..177028407,2	MCF-7	breast:
22	chr5:176943048..176946305-chr5:176949965..176953644,6	MCF-7	breast:
23	chr5:176923252..176925841-chr5:177025670..177028479,3	K562	blood:
24	chr5:176519593..176521412-chr5:176923505..176925099,2	K562	blood:
25	chr5:176942355..176946513-chr5:177025554..177029046,7	MCF-7	breast:
26	chr5:176943048..176946305-chr5:176949965..176953644,6	MCF-7	breast:
27	chr5:176943515..176944451-chr6:26124410..26125053,2	Hela-S3	cervix:
28	chr17:62222989..62223603-chr5:176924432..176925193,2	HCT-116	colon:
29	chr5:176922579..176925417-chr5:176960443..176963610,5	K562	blood:
30	chr5:176914716..176915651-chr5:176927582..176928570,2	MCF-7	breast:
31	chr5:176557961..176562995-chr5:176922824..176926506,4	K562	blood:
32	chr17:73775369..73776233-chr5:176924198..176925025,2	Hela-S3	cervix:
33	chr5:176939485..176941829-chr5:177017923..177020658,4	MCF-7	breast:
34	chr5:176955712..176957549-chr5:176980270..176982874,2	K562	blood:
35	chr5:176928327..176929846-chr5:177027652..177029155,2	K562	blood:
36	chr5:176728198..176732998-chr5:176923709..176925672,5	K562	blood:
37	chr5:176943414..176949809-chr5:177018256..177021226,8	MCF-7	breast:
38	chr5:176831572..176832079-chr5:176927731..176928689,2	MCF-7	breast:
39	chr5:176814610..176818995-chr5:176923007..176929143,6	MCF-7	breast:
40	chr14:39901309..39901883-chr5:176924137..176924694,2	Hela-S3	cervix:
41	chr5:176817551..176818141-chr5:176927706..176928668,2	K562	blood:
42	chr5:176762919..176763487-chr5:176927677..176928557,2	MCF-7	breast:
43	chr20:54966730..54967370-chr5:176924121..176925044,2	Hela-S3	cervix:
44	chr5:176954396..176956242-chr5:176959292..176962500,4	K562	blood:
45	chr5:176927916..176928713-chr5:176935953..176937217,3	MCF-7	breast:
46	chr5:176923602..176926182-chr5:177017999..177019710,2	K562	blood:
47	chr5:176955719..176959577-chr5:176964449..176968191,4	K562	blood:
48	chr5:176942208..176943787-chr5:176963993..176966077,2	MCF-7	breast:
49	chr5:176817250..176818125-chr5:176927740..176928493,2	MCF-7	breast:
50	chr5:70882556..70884981-chr5:176924076..176925754,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDX41-1	chr5:176937261-176937383	NONHSAT105428
2	lnc-PRR7-2	chr5:176930359-176930648	ENSG00000248996.1
3	lnc-DDX41-1	chr5:176936759-176936827	NONHSAT105429
4	lnc-DDX41-1	chr5:176936167-176936658	NONHSAT105429
5	lnc-DDX41-1	chr5:176935785-176936658	NONHSAT105428

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DOK3	hsa-miR-320a	chr5:176929405-176929432

Variant related genes	Relation type
DDX41	TF binding region
DOK3	TF binding region
FAM193B	TF binding region
PDLIM7	TF binding region
DDX41	CpG island
DOK3	CpG island
FAM193B	CpG island
PDLIM7	CpG island
ENSG00000087586	chromatin interactions
ENSG00000074276	chromatin interactions
ENSG00000198055	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000125875	chromatin interactions
ENSG00000027847	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000169230	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000146094	chromatin interactions
ENSG00000165671	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000160867	chromatin interactions
ENSG00000131187	chromatin interactions
ENSG00000087206	chromatin interactions
ENSG00000131183	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000196923	chromatin interactions
ENSG00000183258	chromatin interactions
ENSG00000146067	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000169228	chromatin interactions
ENSG00000169220	chromatin interactions
ENSG00000132182	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000165355	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000145916	chromatin interactions
ENSG00000272459	chromatin interactions
ENSG00000131844	chromatin interactions
ENSG00000174891	chromatin interactions
ENSG00000213347	chromatin interactions

Extended variants
information (count: 1539 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1539 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61751022	chr5:176923436-176923437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs372976882	chr5:176923440-176923441	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs368310642	chr5:176923447-176923448	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs570030525	chr5:176923504-176923505	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs142330134	chr5:176923520-176923521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs536460972	chr5:176923531-176923532	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs554932951	chr5:176923541-176923542	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs573505338	chr5:176923574-176923575	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs539826063	chr5:176923578-176923579	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs558559166	chr5:176923583-176923584	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs577003319	chr5:176923610-176923611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs544369435	chr5:176923637-176923638	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs562579343	chr5:176923651-176923652	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs529880070	chr5:176923685-176923686	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs372154966	chr5:176923694-176923695	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs542027530	chr5:176923745-176923746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs560165207	chr5:176923777-176923778	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs527615644	chr5:176923806-176923807	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs546667183	chr5:176923821-176923822	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs368236506	chr5:176923833-176923834	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs189403002	chr5:176923871-176923872	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs375469091	chr5:176923876-176923877	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs536421759	chr5:176923936-176923937	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs56056589	chr5:176924014-176924015	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs113490551	chr5:176924029-176924030	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs555174996	chr5:176924042-176924043	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs567039119	chr5:176924065-176924066	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs534551392	chr5:176924101-176924102	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs558265343	chr5:176924162-176924163	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs28709214	chr5:176924175-176924176	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs117745839	chr5:176924218-176924219	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs556265557	chr5:176924236-176924237	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
33	rs186256412	chr5:176924239-176924240	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
34	rs568699009	chr5:176924345-176924346	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
35	rs190892940	chr5:176924353-176924354	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
36	rs560334804	chr5:176924417-176924418	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
37	rs572244400	chr5:176924451-176924452	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
38	rs234376	chr5:176924496-176924497	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs564051486	chr5:176924522-176924523	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
40	rs58018743	chr5:176924525-176924526	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
41	rs11548827	chr5:176924539-176924540	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
42	rs562623076	chr5:176924579-176924580	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
43	rs530248675	chr5:176924580-176924581	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
44	rs554099916	chr5:176924634-176924635	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
45	rs28532793	chr5:176924650-176924651	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
46	rs534133086	chr5:176924676-176924677	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
47	rs552800488	chr5:176924689-176924690	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
48	rs73349177	chr5:176924740-176924741	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369931585	chr5:176924743-176924744	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
50	rs537817811	chr5:176924755-176924756	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:2360 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176914800-176923600	Weak transcription	Pancreas	Pancrea
2	chr5:176916800-176923800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
3	chr5:176917800-176924200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:176918400-176923600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:176919600-176923800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
6	chr5:176920000-176924000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:176920200-176923800	Enhancers	Fetal Brain Male	brain
8	chr5:176920400-176923600	Weak transcription	Thymus	Thymus
9	chr5:176920400-176924000	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:176920400-176924000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr5:176920600-176923600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:176920600-176923800	Flanking Active TSS	Hela-S3	cervix
13	chr5:176920800-176924000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:176921000-176923800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:176921000-176923800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr5:176921200-176923600	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:176921200-176923600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
18	chr5:176921200-176923800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:176921200-176923800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:176921200-176923800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
21	chr5:176921200-176923800	Enhancers	Small Intestine	intestine
22	chr5:176921200-176923800	Transcr. at gene 5' and 3'	NHLF	lung
23	chr5:176921400-176923600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
24	chr5:176921600-176924200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:176921800-176923600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
26	chr5:176921800-176924000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:176922000-176923600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:176922000-176923600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
29	chr5:176922000-176923600	Enhancers	Liver	Liver
30	chr5:176922000-176923600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
31	chr5:176922000-176923600	Flanking Active TSS	Psoas Muscle	Psoas
32	chr5:176922000-176923800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
33	chr5:176922000-176923800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:176922000-176923800	Transcr. at gene 5' and 3'	HSMMtube	muscle
35	chr5:176922200-176925400	Active TSS	Aorta	Aorta
36	chr5:176922600-176923600	Flanking Active TSS	GM12878-XiMat	blood
37	chr5:176922600-176924000	Enhancers	Primary T cells from cord blood	blood
38	chr5:176922600-176924400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr5:176922800-176923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:176922800-176923600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:176922800-176923600	Flanking Active TSS	HepG2	liver
42	chr5:176922800-176923600	Transcr. at gene 5' and 3'	HSMM	muscle
43	chr5:176922800-176923800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:176922800-176924000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr5:176922800-176924200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:176922800-176924200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr5:176923000-176923600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr5:176923000-176923600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr5:176923000-176923600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
50	chr5:176923000-176923600	Flanking Active TSS	Fetal Lung	lung

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