Variant report

Variant	nsv1042585
Chromosome Location	chr14:45401506-45497907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1072)
CpG islands
(count:1098)
Chromatin interactive
region (count:77)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:45430514-45430683	K562	blood:	n/a	n/a
2	ARID3A	chr14:45430836-45431478	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:45428507-45428512	HepG2	liver:	n/a	n/a
4	ATF1	chr14:45430867-45431558	K562	blood:	n/a	n/a
5	ATF2	chr14:45430895-45431483	GM12878	blood:	n/a	n/a
6	ATF2	chr14:45431013-45431590	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr14:45430757-45431643	GM12878	blood:	n/a	n/a
8	ATF3	chr14:45431097-45431606	GM12878	blood:	n/a	n/a
9	ATF3	chr14:45431204-45431479	K562	blood:	n/a	n/a
10	ATF3	chr14:45431168-45431588	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr14:45431190-45431567	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr14:45431186-45431556	HepG2	liver:	n/a	n/a
13	ATF3	chr14:45431239-45431546	GM12878	blood:	n/a	n/a
14	BATF	chr14:45497390-45497737	GM12878	blood:	n/a	n/a
15	BATF	chr14:45497424-45497708	GM12878	blood:	n/a	n/a
16	BCL11A	chr14:45497556-45497752	GM12878	blood:	n/a	n/a
17	BCL11A	chr14:45497434-45497723	GM12878	blood:	n/a	n/a
18	BCL3	chr14:45430669-45431291	A549	lung:	n/a	chr14:45431089-45431098 chr14:45430838-45430845
19	BCL3	chr14:45430841-45431513	A549	lung:	n/a	chr14:45431089-45431098
20	BCLAF1	chr14:45430680-45431701	GM12878	blood:	n/a	chr14:45431089-45431098 chr14:45430838-45430845
21	BHLHE40	chr14:45430872-45431879	K562	blood:	n/a	n/a
22	BHLHE40	chr14:45430475-45431845	GM12878	blood:	n/a	n/a
23	BHLHE40	chr14:45430861-45431649	HepG2	liver:	n/a	n/a
24	BRCA1	chr14:45432147-45432500	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr14:45430923-45431434	GM12878	blood:	n/a	n/a
26	BRCA1	chr14:45451804-45451915	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr14:45431096-45431561	HepG2	liver:	n/a	n/a
28	BRCA1	chr14:45430874-45431724	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr14:45431972-45432118	GM12878	blood:	n/a	n/a
30	CBX3	chr14:45430807-45431718	HCT-116	colon:	n/a	n/a
31	CBX3	chr14:45430803-45431654	K562	blood:	n/a	n/a
32	CBX3	chr14:45430693-45431762	HCT-116	colon:	n/a	n/a
33	CCNT2	chr14:45431027-45432352	K562	blood:	n/a	n/a
34	CEBPB	chr14:45482912-45483336	A549	lung:	n/a	chr14:45483236-45483245 chr14:45483236-45483245 chr14:45483236-45483245
35	CEBPB	chr14:45423981-45424315	Hela-S3	cervix:	n/a	chr14:45424134-45424145
36	CEBPB	chr14:45482786-45483430	A549	lung:	n/a	chr14:45483236-45483245 chr14:45483236-45483245 chr14:45483236-45483245
37	CEBPB	chr14:45424805-45425171	MCF-7	breast:	n/a	chr14:45424939-45424950
38	CEBPB	chr14:45454864-45454996	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr14:45408692-45408960	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr14:45479096-45479472	A549	lung:	n/a	chr14:45479348-45479359 chr14:45479346-45479359 chr14:45479346-45479357 chr14:45479346-45479359 chr14:45479346-45479359
41	CEBPB	chr14:45424817-45425109	Hela-S3	cervix:	n/a	chr14:45424939-45424950
42	CEBPB	chr14:45434997-45435237	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr14:45435027-45435200	A549	lung:	n/a	n/a
44	CEBPB	chr14:45483050-45483436	K562	blood:	n/a	chr14:45483236-45483245 chr14:45483236-45483245 chr14:45483236-45483245
45	CEBPB	chr14:45424738-45425082	HepG2	liver:	n/a	chr14:45424939-45424950
46	CEBPB	chr14:45483044-45483461	H1-hESC	embryonic stem cell:	n/a	chr14:45483236-45483245 chr14:45483236-45483245 chr14:45483236-45483245
47	CEBPB	chr14:45454182-45454395	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr14:45483046-45483503	Hela-S3	cervix:	n/a	chr14:45483236-45483245 chr14:45483236-45483245 chr14:45483236-45483245
49	CEBPB	chr14:45483061-45483432	IMR90	lung:	n/a	chr14:45483236-45483245 chr14:45483236-45483245 chr14:45483236-45483245
50	CEBPB	chr14:45479014-45479582	K562	blood:	n/a	chr14:45479348-45479359 chr14:45479346-45479359 chr14:45479346-45479357 chr14:45479346-45479359 chr14:45479346-45479359

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45431075-45431125	GM19239	blood:	n/a
2	chr14:45431383-45431433	T-47D	breast:	n/a
3	chr14:45431885-45431935	HUVEC	blood vessel:	n/a
4	chr14:45431297-45431347	Hepatocyte	liver:	n/a
5	chr14:45430512-45430562	AG09309	skin:	n/a
6	chr14:45415114-45415164	HIPEpiC	eye:	n/a
7	chr14:45430512-45430562	A549	lung:	n/a
8	chr14:45430512-45430562	HUVEC	blood vessel:	n/a
9	chr14:45431411-45431461	RPTEC	kidney:	n/a
10	chr14:45431486-45431536	HPAEpiC	pulmonary alveolar:	n/a
11	chr14:45431486-45431536	A549	lung:	n/a
12	chr14:45431383-45431433	SAEC	small airway:	n/a
13	chr14:45431885-45431935	U87	brain:	n/a
14	chr14:45432458-45432508	MCF-7	breast:	n/a
15	chr14:45432458-45432508	SK-N-SH_RA	brain:	n/a
16	chr14:45431383-45431433	ECC-1	luminal epithelium:	n/a
17	chr14:45431075-45431125	AG04450	lung:	fetal
18	chr14:45431885-45431935	NHBE	bronchial:	n/a
19	chr14:45432458-45432508	AG10803	skin:	n/a
20	chr14:45431354-45431404	K562	blood:	n/a
21	chr14:45429449-45429499	HPAEpiC	pulmonary alveolar:	n/a
22	chr14:45431383-45431433	HL-60	blood:	n/a
23	chr14:45431486-45431536	Hela-S3	cervix:	n/a
24	chr14:45431075-45431125	BJ	skin:	n/a
25	chr14:45430818-45430868	AG04450	lung:	fetal
26	chr14:45431685-45431735	ovcar-3	ovarian:	n/a
27	chr14:45431795-45431845	HUVEC	blood vessel:	n/a
28	chr14:45431486-45431536	SK-N-SH	brain:	n/a
29	chr14:45431383-45431433	HNPCEpiC	eye:	n/a
30	chr14:45431075-45431125	T-47D	breast:	n/a
31	chr14:45431685-45431735	HCF	heart:	n/a
32	chr14:45429449-45429499	HAEpiC	amniotic membrane:	n/a
33	chr14:45431075-45431125	NB4	blood:	n/a
34	chr14:45431383-45431433	AG10803	skin:	n/a
35	chr14:45430818-45430868	HRCEpiC	kidney:	n/a
36	chr14:45432516-45432566	PrEC	prostate:	n/a
37	chr14:45431885-45431935	AoSMC	blood vessel:	n/a
38	chr14:45432309-45432359	RPTEC	kidney:	n/a
39	chr14:45431685-45431735	HIPEpiC	eye:	n/a
40	chr14:45431885-45431935	AG10803	skin:	n/a
41	chr14:45431685-45431735	SK-N-SH_RA	brain:	n/a
42	chr14:45431795-45431845	HAEpiC	amniotic membrane:	n/a
43	chr14:45415114-45415164	A549	lung:	n/a
44	chr14:45430818-45430868	HRPEpiC	eye:	n/a
45	chr14:45431297-45431347	T-47D	breast:	n/a
46	chr14:45431297-45431347	PFSK-1	brain:	n/a
47	chr14:45431885-45431935	GM12878	blood:	n/a
48	chr14:45431383-45431433	SK-N-SH_RA	brain:	n/a
49	chr14:45431885-45431935	GM06990	blood:	n/a
50	chr14:45431297-45431347	NH-A	brain:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:45429027..45431300-chr14:45604077..45605830,2	K562	blood:
2	chr14:45433894..45436353-chr14:45438696..45441267,2	MCF-7	breast:
3	chr14:45421921..45423544-chr14:45426465..45428851,2	K562	blood:
4	chr14:45411284..45415630-chr14:45602113..45605486,4	MCF-7	breast:
5	chr14:45471186..45473239-chr14:45488611..45490620,2	K562	blood:
6	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
7	chr14:45447939..45449811-chr14:45461591..45463970,2	MCF-7	breast:
8	chr14:45398876..45401534-chr14:45602773..45604784,2	MCF-7	breast:
9	chr14:45432794..45435904-chr14:45437854..45440378,3	K562	blood:
10	chr14:45430554..45432719-chr14:45436905..45438699,2	MCF-7	breast:
11	chr14:45419863..45422237-chr14:45429004..45431292,2	K562	blood:
12	chr14:45399670..45402178-chr14:45404869..45407117,2	K562	blood:
13	chr14:45414626..45416449-chr14:45423865..45425527,2	MCF-7	breast:
14	chr14:45399670..45402178-chr14:45404869..45407117,2	K562	blood:
15	chr14:45417157..45418717-chr14:45419249..45420841,2	MCF-7	breast:
16	chr14:45461379..45464439-chr14:45465878..45468676,3	MCF-7	breast:
17	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
18	chr14:45417495..45420324-chr14:45602844..45604694,2	MCF-7	breast:
19	chr14:45430922..45432847-chr14:45466321..45468139,2	MCF-7	breast:
20	chr14:45366422..45367959-chr14:45403109..45404617,2	K562	blood:
21	chr14:45400278..45402079-chr14:45403926..45405514,2	MCF-7	breast:
22	chr14:45432779..45434655-chr14:45476453..45478128,2	MCF-7	breast:
23	chr14:45437222..45438857-chr14:45461418..45463222,2	MCF-7	breast:
24	chr14:45424516..45427498-chr14:45427563..45431395,4	K562	blood:
25	chr14:45427410..45431483-chr14:45431608..45434596,4	MCF-7	breast:
26	chr1:45205006..45205720-chr14:45430584..45431145,2	Hela-S3	cervix:
27	chr12:106751126..106751727-chr14:45440361..45441020,2	MCF-7	breast:
28	chr1:28562273..28562951-chr14:45430613..45431552,2	Hela-S3	cervix:
29	chr14:45396977..45399022-chr14:45400383..45401934,2	MCF-7	breast:
30	chr14:45429603..45434764-chr14:45555039..45559274,5	MCF-7	breast:
31	chr12:69753395..69753898-chr14:45430927..45431448,2	Hela-S3	cervix:
32	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
33	chr14:45430792..45431379-chr2:232573120..232573847,2	HCT-116	colon:
34	chr14:45401179..45403695-chr14:45430230..45432640,2	MCF-7	breast:
35	chr14:45429725..45432587-chr14:45720437..45723992,3	MCF-7	breast:
36	chr14:45425066..45427979-chr14:45428146..45431397,3	K562	blood:
37	chr14:45437222..45438857-chr14:45461418..45463222,2	MCF-7	breast:
38	chr14:45471186..45473239-chr14:45488611..45490620,2	K562	blood:
39	chr14:45400278..45402079-chr14:45403926..45405514,2	MCF-7	breast:
40	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
41	chr14:45428391..45434782-chr14:45601313..45606393,12	MCF-7	breast:
42	chr14:45417157..45418717-chr14:45419249..45420841,2	MCF-7	breast:
43	chr14:45432779..45434655-chr14:45476453..45478128,2	MCF-7	breast:
44	chr14:45447939..45449811-chr14:45461591..45463970,2	MCF-7	breast:
45	chr14:45431180..45433416-chr14:45447895..45450049,3	MCF-7	breast:
46	chr14:45433894..45436353-chr14:45438696..45441267,2	MCF-7	breast:
47	chr14:45430817..45431583-chr19:40336912..40337455,2	Hela-S3	cervix:
48	chr14:45432794..45435904-chr14:45437854..45440378,3	K562	blood:
49	chr14:45414626..45416449-chr14:45423865..45425527,2	MCF-7	breast:
50	chr14:45382331..45385097-chr14:45486659..45488651,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRPF39-2	chr14:45481090-45481278	NONHSAT036630
2	lnc-PRPF39-2	chr14:45496502-45496537	NONHSAT036631
3	lnc-PRPF39-2	chr14:45496502-45496677	NONHSAT036630
4	lnc-PRPF39-2	chr14:45494986-45495075	NONHSAT036630
5	lnc-FKBP3-7	chr14:45407755-45409773	NONHSAT036628
6	lnc-PRPF39-2	chr14:45494676-45495075	NONHSAT036631
7	lnc-PRPF39-2	chr14:45497379-45497499	NONHSAT036630

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KLHL28	hsa-miR-93-5p	chr14:45413177-45413199
2	KLHL28	hsa-miR-361-5p	chr14:45413754-45413775

Variant related genes	Relation type
FAM179B	TF binding region
KLHL28	TF binding region
FAM179B	CpG island
KLHL28	CpG island
ENSG00000266402	chromatin interactions
ENSG00000212615	chromatin interactions
ENSG00000179476	chromatin interactions
ENSG00000115548	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000185246	chromatin interactions
ENSG00000187790	chromatin interactions
ENSG00000129534	chromatin interactions
ENSG00000127337	chromatin interactions
ENSG00000179454	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000166411	chromatin interactions
ENSG00000013503	chromatin interactions
ENSG00000187514	chromatin interactions
ENSG00000162639	chromatin interactions
ENSG00000100442	chromatin interactions
ENSG00000130770	chromatin interactions
ENSG00000198718	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000258949	chromatin interactions
ENSG00000249163	chromatin interactions

Extended variants
information (count: 3400 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3400 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536952113	chr14:45401514-45401515	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs548555695	chr14:45401527-45401528	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs147938667	chr14:45401531-45401532	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs112593192	chr14:45401554-45401555	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559214926	chr14:45401600-45401601	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570538550	chr14:45401620-45401621	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565040716	chr14:45401651-45401652	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537575082	chr14:45401664-45401665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556112043	chr14:45401665-45401666	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192258092	chr14:45401701-45401702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565364067	chr14:45401746-45401747	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183061909	chr14:45401747-45401748	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73334121	chr14:45401763-45401764	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185904595	chr14:45401776-45401777	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190328474	chr14:45401867-45401868	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs79049744	chr14:45401897-45401898	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563974040	chr14:45401912-45401913	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532461704	chr14:45401917-45401918	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140096970	chr14:45401929-45401930	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182540088	chr14:45401946-45401947	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530005368	chr14:45401961-45401962	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548582272	chr14:45401985-45401986	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567140035	chr14:45402056-45402057	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142847555	chr14:45402226-45402227	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552786832	chr14:45402282-45402283	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536154011	chr14:45402320-45402321	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555725259	chr14:45402502-45402503	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201064517	chr14:45402505-45402506	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188192202	chr14:45402512-45402513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569418564	chr14:45402513-45402514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200736260	chr14:45402517-45402518	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs79923799	chr14:45402530-45402531	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs397784288	chr14:45402531-45402532	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536774459	chr14:45402571-45402572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs151066226	chr14:45402592-45402593	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568155525	chr14:45402659-45402660	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535070656	chr14:45402726-45402727	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11851962	chr14:45402727-45402728	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561558365	chr14:45402872-45402873	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545355333	chr14:45402936-45402937	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs571994403	chr14:45402940-45402941	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs116023250	chr14:45402955-45402956	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557526935	chr14:45402969-45402970	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs28513220	chr14:45403031-45403032	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552544344	chr14:45403094-45403095	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543614724	chr14:45403123-45403124	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs550466732	chr14:45403146-45403147	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs572840519	chr14:45403191-45403192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs140932264	chr14:45403209-45403210	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs530236431	chr14:45403214-45403215	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2988 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
3	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:45384400-45406800	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:45384800-45408000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:45386600-45405600	Weak transcription	Fetal Lung	lung
7	chr14:45386800-45405600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:45389600-45406800	Weak transcription	HSMMtube	muscle
9	chr14:45390200-45406800	Weak transcription	Fetal Stomach	stomach
10	chr14:45390400-45406600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:45390400-45408200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:45390600-45408400	Weak transcription	Fetal Brain Female	brain
13	chr14:45391200-45405800	Weak transcription	Fetal Intestine Large	intestine
14	chr14:45391200-45411000	Weak transcription	HSMM	muscle
15	chr14:45391200-45413000	Weak transcription	HUVEC	blood vessel
16	chr14:45391400-45406400	Weak transcription	Fetal Intestine Small	intestine
17	chr14:45391400-45406800	Weak transcription	Thymus	Thymus
18	chr14:45394200-45413800	Weak transcription	HepG2	liver
19	chr14:45394400-45408000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:45394600-45408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:45394800-45406800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:45395000-45408000	Weak transcription	Gastric	stomach
23	chr14:45395200-45403000	Weak transcription	GM12878-XiMat	blood
24	chr14:45395200-45403200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:45395200-45403400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:45395200-45412400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:45395200-45413800	Weak transcription	Fetal Brain Male	brain
28	chr14:45395400-45403200	Weak transcription	Osteobl	bone
29	chr14:45395400-45408000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:45395400-45414400	Weak transcription	NH-A	brain
31	chr14:45395600-45416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:45395800-45406600	Weak transcription	Fetal Kidney	kidney
33	chr14:45395800-45408000	Weak transcription	Spleen	Spleen
34	chr14:45396200-45405600	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:45396200-45405800	Weak transcription	Aorta	Aorta
36	chr14:45396200-45406800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:45396200-45428400	Weak transcription	HMEC	breast
38	chr14:45396400-45401800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:45396400-45406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:45396600-45406800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:45396600-45408000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:45396600-45414200	Weak transcription	Ovary	ovary
43	chr14:45396600-45416400	Weak transcription	Psoas Muscle	Psoas
44	chr14:45396800-45402800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:45396800-45406000	Weak transcription	NHLF	lung
46	chr14:45396800-45408000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:45396800-45408000	Weak transcription	Lung	lung
48	chr14:45396800-45413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:45396800-45414200	Weak transcription	Fetal Heart	heart
50	chr14:45397000-45414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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