Variant report

Variant	esv3443720
Chromosome Location	chr5:177539696-177541944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:567)
CpG islands
(count:549)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:177540317-177540820	GM12878	blood:	n/a	n/a
2	ATF3	chr5:177539555-177539837	K562	blood:	n/a	n/a
3	BACH1	chr5:177540026-177540805	H1-hESC	embryonic stem cell:	n/a	chr5:177540516-177540530
4	BACH1	chr5:177541107-177541428	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr5:177540367-177540632	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:177540367-177540698	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540641-177540650
7	BCL3	chr5:177540303-177540732	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540356-177540369 chr5:177540641-177540650
8	BCLAF1	chr5:177540271-177540760	K562	blood:	n/a	chr5:177540531-177540540 chr5:177540737-177540750 chr5:177540356-177540369 chr5:177540641-177540650
9	BCLAF1	chr5:177540150-177540758	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540737-177540750 chr5:177540356-177540369 chr5:177540263-177540271 chr5:177540641-177540650
10	BCLAF1	chr5:177540275-177540806	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540737-177540750 chr5:177540356-177540369 chr5:177540641-177540650
11	BHLHE40	chr5:177540026-177540827	GM12878	blood:	n/a	chr5:177540630-177540646
12	BHLHE40	chr5:177541350-177541888	K562	blood:	n/a	chr5:177541384-177541400
13	BHLHE40	chr5:177541277-177542983	GM12878	blood:	n/a	chr5:177541384-177541400
14	BHLHE40	chr5:177540090-177540868	K562	blood:	n/a	chr5:177540630-177540646
15	BRCA1	chr5:177540990-177541441	GM12878	blood:	n/a	n/a
16	BRCA1	chr5:177540533-177540717	GM12878	blood:	n/a	n/a
17	CBX3	chr5:177539543-177539918	K562	blood:	n/a	n/a
18	CBX3	chr5:177539528-177540793	K562	blood:	n/a	n/a
19	CCNT2	chr5:177540123-177541693	K562	blood:	n/a	chr5:177541562-177541571 chr5:177540483-177540492 chr5:177541203-177541212 chr5:177540790-177540799 chr5:177541358-177541367 chr5:177540826-177540835 chr5:177541035-177541044 chr5:177540816-177540825 chr5:177540465-177540474
20	CEBPB	chr5:177539845-177540182	K562	blood:	n/a	n/a
21	CEBPB	chr5:177541259-177541370	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr5:177539823-177540682	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr5:177540477-177540629	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr5:177540275-177541576	GM12878	blood:	n/a	chr5:177541201-177541211
25	CHD1	chr5:177541115-177541537	H1-hESC	embryonic stem cell:	n/a	chr5:177541201-177541211
26	CHD1	chr5:177541905-177543925	GM12878	blood:	n/a	n/a
27	CHD2	chr5:177540403-177540653	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr5:177540970-177543989	GM12878	blood:	n/a	chr5:177541201-177541211
29	CHD2	chr5:177540495-177540746	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr5:177539979-177540768	GM12878	blood:	n/a	chr5:177540230-177540240
31	CHD2	chr5:177541294-177541558	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr5:177540304-177540631	K562	blood:	n/a	n/a
33	CREB1	chr5:177540058-177540835	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr5:177540194-177541326	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr5:177540274-177540748	A549	lung:	n/a	n/a
36	CREB1	chr5:177540193-177541229	K562	blood:	n/a	n/a
37	CTBP2	chr5:177540983-177543564	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr5:177541700-177541850	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr5:177540220-177540370	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:177540240-177540390	GM12873	blood:	n/a	n/a
41	CTCF	chr5:177540218-177540402	A549	lung:	n/a	n/a
42	CTCF	chr5:177540620-177540770	GM12868	blood:	n/a	n/a
43	CTCF	chr5:177540167-177540460	GM12892	blood:	n/a	n/a
44	CTCF	chr5:177540620-177540770	GM12871	blood:	n/a	n/a
45	CTCF	chr5:177540260-177540410	K562	blood:	n/a	n/a
46	CTCF	chr5:177540599-177540769	LNCaP	prostate:	n/a	n/a
47	CTCF	chr5:177540580-177540730	GM12873	blood:	n/a	n/a
48	CTCF	chr5:177540301-177540411	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:177540060-177540290	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:177540180-177540330	GM12871	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177540452-177540502	NB4	blood:	n/a
2	chr5:177540738-177540788	HCF	heart:	n/a
3	chr5:177541051-177541101	HAEpiC	amniotic membrane:	n/a
4	chr5:177539698-177539748	HUVEC	blood vessel:	n/a
5	chr5:177540239-177540289	NHDF-neo	bronchial:	n/a
6	chr5:177539937-177539987	SAEC	small airway:	n/a
7	chr5:177540452-177540502	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:177539937-177539987	HMEC	breast:	n/a
9	chr5:177540452-177540502	GM12878	blood:	n/a
10	chr5:177540452-177540502	RPTEC	kidney:	n/a
11	chr5:177540239-177540289	H1-hESC	embryonic stem cell:	embryo
12	chr5:177541051-177541101	HMEC	breast:	n/a
13	chr5:177539937-177539987	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:177540566-177540616	T-47D	breast:	n/a
15	chr5:177539998-177540048	ovcar-3	ovarian:	n/a
16	chr5:177541051-177541101	HCF	heart:	n/a
17	chr5:177540738-177540788	NHBE	bronchial:	n/a
18	chr5:177539937-177539987	ProgFib	skin:	n/a
19	chr5:177540239-177540289	SK-N-SH_RA	brain:	n/a
20	chr5:177541051-177541101	HNPCEpiC	eye:	n/a
21	chr5:177541754-177541804	MCF10A-Er-Src	breast:	n/a
22	chr5:177540239-177540289	SK-N-MC	brain:	n/a
23	chr5:177540452-177540502	ProgFib	skin:	n/a
24	chr5:177540239-177540289	HMEC	breast:	n/a
25	chr5:177539937-177539987	HRCEpiC	kidney:	n/a
26	chr5:177541754-177541804	ECC-1	luminal epithelium:	n/a
27	chr5:177541051-177541101	Hepatocyte	liver:	n/a
28	chr5:177539698-177539748	GM12878	blood:	n/a
29	chr5:177539698-177539748	Hepatocyte	liver:	n/a
30	chr5:177540239-177540289	K562	blood:	n/a
31	chr5:177541051-177541101	IMR90	lung:	fetal
32	chr5:177540452-177540502	NH-A	brain:	n/a
33	chr5:177540452-177540502	HMEC	breast:	n/a
34	chr5:177541051-177541101	AG09309	skin:	n/a
35	chr5:177540566-177540616	RPTEC	kidney:	n/a
36	chr5:177540452-177540502	HNPCEpiC	eye:	n/a
37	chr5:177540239-177540289	HIPEpiC	eye:	n/a
38	chr5:177541754-177541804	BE2_C	brain:	n/a
39	chr5:177541754-177541804	NB4	blood:	n/a
40	chr5:177541051-177541101	SK-N-MC	brain:	n/a
41	chr5:177539998-177540048	AoSMC	blood vessel:	n/a
42	chr5:177539937-177539987	SK-N-SH_RA	brain:	n/a
43	chr5:177540452-177540502	SK-N-SH_RA	brain:	n/a
44	chr5:177539937-177539987	HCT-116	colon:	n/a
45	chr5:177539698-177539748	HCPEpiC	choroid plexus:	n/a
46	chr5:177539998-177540048	GM12891	blood:	n/a
47	chr5:177539937-177539987	HEK293	kidney:	embryo
48	chr5:177540239-177540289	SKMC	muscle:	n/a
49	chr5:177540566-177540616	AG04450	lung:	fetal
50	chr5:177541051-177541101	CMK	blood:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62607697..62609963-chr5:177539195..177541814,2	MCF-7	breast:
2	chr5:177539043..177545979-chr5:177577141..177584026,12	K562	blood:
3	chr5:177025398..177027289-chr5:177540105..177542434,2	MCF-7	breast:
4	chr5:177540540..177542207-chr5:177659467..177661313,2	K562	blood:
5	chr5:177507320..177507847-chr5:177540649..177541511,2	MCF-7	breast:
6	chr5:177508700..177509231-chr5:177541426..177542142,2	MCF-7	breast:
7	chr5:177541621..177546270-chr5:177630811..177632975,5	MCF-7	breast:
8	chr5:177539791..177542194-chr5:177578689..177582162,4	K562	blood:
9	chr5:177508834..177509399-chr5:177540733..177541622,2	MCF-7	breast:
10	chr17:58153519..58156304-chr5:177540532..177542693,2	MCF-7	breast:
11	chr5:177504647..177505631-chr5:177540688..177541193,2	MCF-7	breast:
12	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:
13	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
14	chr5:177541179..177543567-chr5:177562431..177564513,2	K562	blood:
15	chr5:177540128..177541993-chrX:153630479..153632171,2	MCF-7	breast:

No data

Variant related genes	Relation type
N4BP3	TF binding region
N4BP3	CpG island
ENSG00000184840	chromatin interactions
ENSG00000175309	chromatin interactions
ENSG00000013563	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000027847	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000068097	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549660318	chr5:177539734-177539735	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs186248167	chr5:177539753-177539754	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs190833507	chr5:177539921-177539922	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs529101040	chr5:177539928-177539929	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs566271009	chr5:177540003-177540004	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs115969116	chr5:177540035-177540036	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs111532797	chr5:177540043-177540044	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs146334003	chr5:177540063-177540064	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs79662706	chr5:177540087-177540088	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs111756925	chr5:177540095-177540096	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs538516611	chr5:177540203-177540204	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs7721220	chr5:177540223-177540224	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574940025	chr5:177540228-177540229	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs186362331	chr5:177540229-177540230	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs553403415	chr5:177540266-177540267	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs28373413	chr5:177540360-177540361	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545531307	chr5:177540362-177540363	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs563720019	chr5:177540364-177540365	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs151037483	chr5:177540375-177540376	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs575658286	chr5:177540409-177540410	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs543673044	chr5:177540430-177540431	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs561852577	chr5:177540439-177540440	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs529046779	chr5:177540457-177540458	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs540874498	chr5:177540490-177540491	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs559636133	chr5:177540500-177540501	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs527777928	chr5:177540508-177540509	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs552739920	chr5:177540509-177540510	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs11249792	chr5:177540517-177540518	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531632022	chr5:177540589-177540590	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs550408569	chr5:177540645-177540646	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs532580182	chr5:177540656-177540657	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs568662230	chr5:177540748-177540749	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs536190407	chr5:177540763-177540764	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs6601212	chr5:177540791-177540792	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs565965032	chr5:177540816-177540817	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs73348171	chr5:177540859-177540860	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs151112840	chr5:177540920-177540921	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs183720737	chr5:177540943-177540944	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs543061708	chr5:177540984-177540985	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs555591537	chr5:177540991-177540992	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs573852175	chr5:177541064-177541065	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs141114128	chr5:177541075-177541076	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs559572917	chr5:177541132-177541133	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs533191997	chr5:177541145-177541146	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs555327236	chr5:177541246-177541247	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs546292721	chr5:177541341-177541342	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs564580148	chr5:177541348-177541349	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs187805511	chr5:177541373-177541374	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs531683374	chr5:177541377-177541378	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs79417842	chr5:177541380-177541381	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177532000-177539800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:177532400-177539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:177532400-177539800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:177532400-177539800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:177535800-177539800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:177535800-177539800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:177536000-177539800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:177536000-177540000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:177536000-177540000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:177536000-177540000	Weak transcription	Colonic Mucosa	Colon
11	chr5:177536200-177540000	Weak transcription	Right Ventricle	heart
12	chr5:177536400-177540000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:177536400-177540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:177536400-177540000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:177536400-177540000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:177536400-177540000	Weak transcription	NHEK	skin
17	chr5:177536400-177540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:177536400-177540200	Weak transcription	Gastric	stomach
19	chr5:177536600-177540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:177536600-177540000	Weak transcription	HMEC	breast
21	chr5:177536600-177540200	Weak transcription	Esophagus	oesophagus
22	chr5:177536600-177540200	Weak transcription	Lung	lung
23	chr5:177536800-177539800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:177538200-177539800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:177538600-177540000	Enhancers	Placenta	Placenta
26	chr5:177538800-177540000	Enhancers	Hela-S3	cervix
27	chr5:177539200-177539800	Enhancers	Fetal Heart	heart
28	chr5:177539600-177539800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr5:177539600-177539800	Enhancers	Primary B cells from cord blood	blood
30	chr5:177539600-177539800	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:177539600-177539800	Enhancers	GM12878-XiMat	blood
32	chr5:177539600-177539800	Enhancers	K562	blood
33	chr5:177539600-177540000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr5:177539600-177540000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:177539600-177540000	Weak transcription	Adipose Nuclei	Adipose
36	chr5:177539600-177541400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr5:177539800-177540000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:177539800-177540000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:177539800-177540000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr5:177539800-177540000	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:177539800-177540000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:177539800-177540000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:177539800-177540000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr5:177539800-177540000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:177539800-177540000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:177539800-177540000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:177539800-177540000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:177539800-177540200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr5:177539800-177540200	Flanking Active TSS	Fetal Heart	heart
50	chr5:177539800-177540200	Active TSS	Right Atrium	heart

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