Variant report

Variant	nsv537970
Chromosome Location	chr5:177657927-177756215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2190)
CpG islands
(count:2505)
Chromatin interactive
region (count:116)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2190 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:177710357-177711424	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:177711067-177711470	K562	blood:	n/a	n/a
3	ARID3A	chr5:177707033-177707311	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:177658303-177658558	K562	blood:	n/a	n/a
5	ATF2	chr5:177662015-177662614	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr5:177658255-177658574	K562	blood:	n/a	n/a
7	ATF3	chr5:177663731-177664017	K562	blood:	n/a	n/a
8	BACH1	chr5:177660141-177660312	K562	blood:	n/a	n/a
9	BACH1	chr5:177659303-177660211	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr5:177707055-177707255	K562	blood:	n/a	n/a
11	BACH1	chr5:177658981-177659154	K562	blood:	n/a	n/a
12	BACH1	chr5:177711109-177711430	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr5:177751349-177751642	GM12878	blood:	n/a	n/a
14	BATF	chr5:177666372-177666910	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:177666388-177666934	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:177751326-177751723	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:177751083-177751325	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:177751338-177751655	GM12878	blood:	n/a	n/a
19	BHLHE40	chr5:177739816-177740223	K562	blood:	n/a	n/a
20	BHLHE40	chr5:177750818-177751928	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:177706227-177706368	K562	blood:	n/a	chr5:177706263-177706279
22	BHLHE40	chr5:177659237-177659880	GM12878	blood:	n/a	n/a
23	BHLHE40	chr5:177659243-177660128	HepG2	liver:	n/a	chr5:177659901-177659917
24	BHLHE40	chr5:177706958-177707403	HepG2	liver:	n/a	n/a
25	BHLHE40	chr5:177683800-177684182	K562	blood:	n/a	n/a
26	BHLHE40	chr5:177658902-177660468	K562	blood:	n/a	chr5:177659901-177659917
27	BHLHE40	chr5:177706971-177707322	GM12878	blood:	n/a	n/a
28	BHLHE40	chr5:177663448-177664079	K562	blood:	n/a	n/a
29	BHLHE40	chr5:177682382-177682671	K562	blood:	n/a	n/a
30	BHLHE40	chr5:177658248-177658493	K562	blood:	n/a	n/a
31	BHLHE40	chr5:177663708-177663985	GM12878	blood:	n/a	n/a
32	BHLHE40	chr5:177661787-177662611	K562	blood:	n/a	n/a
33	BHLHE40	chr5:177711076-177711282	K562	blood:	n/a	n/a
34	BHLHE40	chr5:177706952-177707347	K562	blood:	n/a	n/a
35	BHLHE40	chr5:177710571-177710897	HepG2	liver:	n/a	n/a
36	BHLHE40	chr5:177693987-177694158	K562	blood:	n/a	chr5:177694037-177694046 chr5:177694039-177694048 chr5:177694036-177694049 chr5:177694038-177694047 chr5:177694038-177694047
37	BRCA1	chr5:177659209-177660020	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr5:177751500-177751661	GM12878	blood:	n/a	n/a
39	BRCA1	chr5:177711097-177711413	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr5:177662109-177662420	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr5:177662236-177662384	GM12878	blood:	n/a	n/a
42	BRCA1	chr5:177662132-177662544	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr5:177676940-177677091	GM12878	blood:	n/a	n/a
44	BRCA1	chr5:177662057-177662301	HepG2	liver:	n/a	n/a
45	BRCA1	chr5:177706965-177707294	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr5:177707011-177707315	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr5:177706982-177707288	HepG2	liver:	n/a	n/a
48	BRCA1	chr5:177659175-177659241	HepG2	liver:	n/a	n/a
49	CBX3	chr5:177702811-177703140	K562	blood:	n/a	n/a
50	CBX3	chr5:177658924-177659313	K562	blood:	n/a	n/a

(count:2505 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177707036-177707086	HL-60	blood:	n/a
2	chr5:177697400-177697450	Caco-2	colon:	n/a
3	chr5:177753286-177753336	NHBE	bronchial:	n/a
4	chr5:177697477-177697527	AG09319	gingival:	n/a
5	chr5:177707036-177707086	HL-60	blood:	n/a
6	chr5:177697400-177697450	Caco-2	colon:	n/a
7	chr5:177753286-177753336	NHBE	bronchial:	n/a
8	chr5:177697477-177697527	AG09319	gingival:	n/a
9	chr5:177714024-177714074	HUVEC	blood vessel:	n/a
10	chr5:177751557-177751607	ECC-1	luminal epithelium:	n/a
11	chr5:177707036-177707086	ovcar-3	ovarian:	n/a
12	chr5:177734534-177734584	IMR90	lung:	fetal
13	chr5:177751557-177751607	AG04450	lung:	fetal
14	chr5:177707226-177707276	CMK	blood:	n/a
15	chr5:177697400-177697450	MCF10A-Er-Src	breast:	n/a
16	chr5:177658991-177659041	ProgFib	skin:	n/a
17	chr5:177659926-177659976	HRPEpiC	eye:	n/a
18	chr5:177697647-177697697	HNPCEpiC	eye:	n/a
19	chr5:177697400-177697450	BJ	skin:	n/a
20	chr5:177697477-177697527	ProgFib	skin:	n/a
21	chr5:177697400-177697450	CMK	blood:	n/a
22	chr5:177740069-177740119	HIPEpiC	eye:	n/a
23	chr5:177660305-177660355	PANC-1	pancreas:	n/a
24	chr5:177725929-177725979	BJ	skin:	n/a
25	chr5:177659971-177660021	PFSK-1	brain:	n/a
26	chr5:177708528-177708578	HRE	kidney:	n/a
27	chr5:177697477-177697527	HCF	heart:	n/a
28	chr5:177708457-177708507	HNPCEpiC	eye:	n/a
29	chr5:177713841-177713891	HepG2	liver:	n/a
30	chr5:177708457-177708507	NHDF-neo	bronchial:	n/a
31	chr5:177755504-177755554	BJ	skin:	n/a
32	chr5:177740106-177740156	AG09319	gingival:	n/a
33	chr5:177660509-177660559	HAEpiC	amniotic membrane:	n/a
34	chr5:177708457-177708507	SK-N-SH_RA	brain:	n/a
35	chr5:177734396-177734446	LNCaP	prostate:	n/a
36	chr5:177714024-177714074	H1-hESC	embryonic stem cell:	embryo
37	chr5:177707226-177707276	AoSMC	blood vessel:	n/a
38	chr5:177697647-177697697	Hela-S3	cervix:	n/a
39	chr5:177734534-177734584	SK-N-MC	brain:	n/a
40	chr5:177659971-177660021	SK-N-MC	brain:	n/a
41	chr5:177659585-177659635	IMR90	lung:	fetal
42	chr5:177751557-177751607	A549	lung:	n/a
43	chr5:177660036-177660086	GM06990	blood:	n/a
44	chr5:177660036-177660086	NB4	blood:	n/a
45	chr5:177660036-177660086	HUVEC	blood vessel:	n/a
46	chr5:177728612-177728662	IMR90	lung:	fetal
47	chr5:177708304-177708354	HCPEpiC	choroid plexus:	n/a
48	chr5:177713841-177713891	HAEpiC	amniotic membrane:	n/a
49	chr5:177660305-177660355	SKMC	muscle:	n/a
50	chr5:177734534-177734584	HCM	heart:	n/a

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
2	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
3	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
4	chr5:177613072..177615957-chr5:177659065..177661764,2	MCF-7	breast:
5	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
6	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
7	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
8	chr5:177661743..177662668-chr5:178266372..178266966,2	K562	blood:
9	chr5:177706743..177707559-chr5:178017553..178018241,3	MCF-7	breast:
10	chr5:177745925..177747474-chr5:177750084..177752121,2	K562	blood:
11	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
12	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:
13	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
14	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
15	chr5:177736569..177737099-chr5:177978277..177978783,2	MCF-7	breast:
16	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:
17	chr5:177662114..177662778-chr5:178017450..178018023,2	MCF-7	breast:
18	chr5:177679941..177681664-chr5:178053497..178055098,2	K562	blood:
19	chr5:177673184..177676409-chr5:177679568..177684017,5	K562	blood:
20	chr5:177631158..177632989-chr5:177704368..177706626,2	MCF-7	breast:
21	chr5:177746428..177748083-chr5:177750133..177752652,2	MCF-7	breast:
22	chr5:177706726..177707270-chr5:178157310..178157911,2	MCF-7	breast:
23	chr5:177661196..177662135-chr5:178266134..178266915,2	MCF-7	breast:
24	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
25	chr5:177623727..177624647-chr5:177706685..177707211,2	K562	blood:
26	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
27	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
28	chr5:177657753..177659482-chr5:177688552..177690642,2	MCF-7	breast:
29	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
30	chr5:177675640..177677996-chr5:177730945..177733479,2	K562	blood:
31	chr5:177662161..177662775-chr5:177732667..177733658,2	MCF-7	breast:
32	chr5:177667122..177671581-chr5:177672725..177675759,6	K562	blood:
33	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
34	chr5:177669025..177670554-chr5:177680553..177683380,2	MCF-7	breast:
35	chr5:177711262..177713126-chr5:177716170..177718163,3	K562	blood:
36	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
37	chr5:177710796..177711682-chr5:178266072..178266614,2	K562	blood:
38	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
39	chr5:177659087..177660769-chr5:178052015..178054177,2	K562	blood:
40	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
41	chr5:177631652..177633817-chr5:177677988..177680794,2	K562	blood:
42	chr5:177659189..177660088-chr5:178017540..178018315,2	K562	blood:
43	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
44	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
45	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
46	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
47	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
48	chr5:177706663..177708953-chr5:178261165..178263624,2	MCF-7	breast:
49	chr5:177714990..177717211-chr5:177717437..177719265,2	MCF-7	breast:
50	chr5:177662161..177662775-chr5:177732667..177733658,2	MCF-7	breast:

No data

Variant related genes	Relation type
PHYKPL	TF binding region
PHYKPL	CpG island
ENSG00000241878	chromatin interactions
ENSG00000175309	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000050767	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000242341	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000169131	chromatin interactions
ENSG00000244234	chromatin interactions
ENSG00000113240	chromatin interactions

Extended variants
information (count: 4680 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:4680 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55982808	chr5:177657938-177657939	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533852652	chr5:177657955-177657956	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552060662	chr5:177658004-177658005	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145341277	chr5:177658020-177658021	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537679078	chr5:177658047-177658048	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557417673	chr5:177658059-177658060	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34662274	chr5:177658071-177658072	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575852375	chr5:177658095-177658096	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536601757	chr5:177658128-177658129	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555011866	chr5:177658150-177658151	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573542247	chr5:177658162-177658163	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs149204359	chr5:177658164-177658165	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562514268	chr5:177658177-177658178	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559021933	chr5:177658201-177658202	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs180824097	chr5:177658208-177658209	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111429410	chr5:177658231-177658232	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs36035765	chr5:177658237-177658238	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34794508	chr5:177658240-177658241	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs13435943	chr5:177658241-177658242	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372674218	chr5:177658263-177658264	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562559863	chr5:177658272-177658273	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529751638	chr5:177658273-177658274	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541392354	chr5:177658279-177658280	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112389240	chr5:177658318-177658319	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374299992	chr5:177658331-177658332	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs199727023	chr5:177658361-177658362	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146951589	chr5:177658380-177658381	Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552429776	chr5:177658404-177658405	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201106661	chr5:177658412-177658413	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531527377	chr5:177658436-177658437	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200545423	chr5:177658443-177658444	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149132993	chr5:177658445-177658446	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147598478	chr5:177658449-177658450	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185169984	chr5:177658460-177658461	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368559356	chr5:177658478-177658479	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201748394	chr5:177658481-177658482	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201799075	chr5:177658496-177658497	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530484554	chr5:177658502-177658503	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200624018	chr5:177658510-177658511	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370902205	chr5:177658530-177658531	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201260426	chr5:177658534-177658535	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368346079	chr5:177658543-177658544	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs370631447	chr5:177658546-177658547	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554973059	chr5:177658553-177658554	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566857057	chr5:177658555-177658556	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189923011	chr5:177658567-177658568	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559200996	chr5:177658582-177658583	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577471276	chr5:177658589-177658590	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183209408	chr5:177658595-177658596	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556356896	chr5:177658604-177658605	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1766 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177646800-177658000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:177648000-177658000	Strong transcription	Fetal Thymus	thymus
3	chr5:177648600-177658000	Strong transcription	Spleen	Spleen
4	chr5:177651400-177658000	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr5:177651600-177658000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:177651600-177658000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:177651800-177658000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:177652000-177658000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:177652000-177658000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:177652000-177658200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:177652800-177658200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:177653600-177658200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr5:177653600-177658200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:177653600-177658200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:177654000-177658000	Genic enhancers	Colonic Mucosa	Colon
16	chr5:177654200-177658000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:177654200-177658000	Strong transcription	Esophagus	oesophagus
18	chr5:177654200-177658000	Strong transcription	Rectal Smooth Muscle	rectum
19	chr5:177654400-177658000	Strong transcription	Fetal Kidney	kidney
20	chr5:177654400-177658400	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr5:177654800-177658000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:177654800-177658000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:177654800-177658000	Genic enhancers	Pancreas	Pancrea
24	chr5:177655000-177658000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:177655000-177658000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:177655000-177658000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:177655000-177658000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:177655000-177658000	Strong transcription	Gastric	stomach
29	chr5:177655000-177658000	Strong transcription	HSMM	muscle
30	chr5:177655000-177658200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:177655200-177658000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:177655200-177658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:177655400-177658200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:177655600-177658000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:177655600-177658200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:177655800-177658400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr5:177656000-177658000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:177656000-177658000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:177656000-177658000	Weak transcription	Right Atrium	heart
40	chr5:177656000-177658000	Weak transcription	HMEC	breast
41	chr5:177656200-177658400	Genic enhancers	Lung	lung
42	chr5:177656400-177658000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:177656400-177658000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:177656400-177658600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:177656600-177658000	Genic enhancers	Brain Cingulate Gyrus	brain
46	chr5:177656600-177658000	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr5:177656600-177658200	Enhancers	Brain Angular Gyrus	brain
48	chr5:177656600-177658200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
49	chr5:177656800-177658000	Genic enhancers	Primary B cells from cord blood	blood
50	chr5:177656800-177658000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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