Variant report

Variant	esv3397146
Chromosome Location	chr5:167717924-167720922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:167718294-167718578	HepG2	liver:	n/a	n/a
2	ATF2	chr5:167718199-167718704	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:167718169-167718764	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr5:167718104-167718774	A549	lung:	n/a	n/a
5	BCL3	chr5:167717995-167718746	A549	lung:	n/a	n/a
6	BCLAF1	chr5:167718532-167718956	GM12878	blood:	n/a	chr5:167718939-167718952 chr5:167718936-167718949
7	BHLHE40	chr5:167718584-167718792	GM12878	blood:	n/a	chr5:167718686-167718702
8	BHLHE40	chr5:167718313-167718783	HepG2	liver:	n/a	chr5:167718686-167718702
9	BRCA1	chr5:167718331-167718725	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr5:167717974-167719000	HCT-116	colon:	n/a	n/a
11	CEBPB	chr5:167718155-167718651	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:167718155-167718704	A549	lung:	n/a	n/a
13	CEBPB	chr5:167718009-167718689	A549	lung:	n/a	n/a
14	CEBPB	chr5:167718103-167718818	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:167718142-167718405	HepG2	liver:	n/a	n/a
16	CEBPD	chr5:167719432-167719632	HepG2	liver:	n/a	n/a
17	CEBPD	chr5:167718455-167718807	HepG2	liver:	n/a	n/a
18	CHD1	chr5:167718572-167718795	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr5:167718389-167718782	GM12878	blood:	n/a	n/a
20	CHD2	chr5:167719893-167720091	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr5:167718042-167718760	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr5:167718454-167718833	HepG2	liver:	n/a	n/a
23	CHD2	chr5:167718128-167719602	Hela-S3	cervix:	n/a	chr5:167719438-167719448 chr5:167719413-167719423 chr5:167718942-167718952
24	CREB1	chr5:167718279-167718900	A549	lung:	n/a	n/a
25	CTCF	chr5:167718520-167718670	GM12875	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
26	CTCF	chr5:167718440-167718590	GM12878	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
27	CTCF	chr5:167719401-167719479	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr5:167718460-167718610	NHLF	lung:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
29	CTCF	chr5:167718360-167718510	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr5:167718440-167718590	AG09319	gingival:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
31	CTCF	chr5:167719380-167719530	GM06990	blood:	n/a	n/a
32	CTCF	chr5:167719340-167719490	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr5:167719360-167719510	GM12864	blood:	n/a	n/a
34	CTCF	chr5:167719405-167719494	ProgFib	skin:	n/a	n/a
35	CTCF	chr5:167718434-167718875	GM12892	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
36	CTCF	chr5:167718600-167718750	SAEC	small airway:	n/a	n/a
37	CTCF	chr5:167719380-167719530	Caco-2	colon:	n/a	n/a
38	CTCF	chr5:167718680-167718830	GM12873	blood:	n/a	n/a
39	CTCF	chr5:167718779-167718783	GM13976	blood:	n/a	n/a
40	CTCF	chr5:167719400-167719550	HPF	lung:	n/a	n/a
41	CTCF	chr5:167719410-167719508	GM12878	blood:	n/a	n/a
42	CTCF	chr5:167718454-167718591	ProgFib	skin:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
43	CTCF	chr5:167718520-167718670	AG04450	lung:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
44	CTCF	chr5:167719760-167719910	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:167718380-167718530	HMF	breast:	n/a	n/a
46	CTCF	chr5:167718460-167718874	GM19240	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
47	CTCF	chr5:167719431-167719444	MCF-7	breast:	n/a	n/a
48	CTCF	chr5:167719420-167719570	BJ	skin:	n/a	n/a
49	CTCF	chr5:167719380-167719530	SAEC	small airway:	n/a	n/a
50	CTCF	chr5:167719260-167719410	HA-sp	spinal cord:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:167719262-167719312	HEEpiC	esophagus:	n/a
2	chr5:167719478-167719528	AG04449	skin:	fetal
3	chr5:167719548-167719598	T-47D	breast:	n/a
4	chr5:167718536-167718586	ProgFib	skin:	n/a
5	chr5:167718524-167718574	HCT-116	colon:	n/a
6	chr5:167718483-167718533	AG09319	gingival:	n/a
7	chr5:167718536-167718586	HEEpiC	esophagus:	n/a
8	chr5:167718483-167718533	AG04449	skin:	fetal
9	chr5:167718536-167718586	HAEpiC	amniotic membrane:	n/a
10	chr5:167718524-167718574	CMK	blood:	n/a
11	chr5:167718982-167719032	K562	blood:	n/a
12	chr5:167718982-167719032	BJ	skin:	n/a
13	chr5:167718982-167719032	HRCEpiC	kidney:	n/a
14	chr5:167718536-167718586	MCF10A-Er-Src	breast:	n/a
15	chr5:167719548-167719598	PrEC	prostate:	n/a
16	chr5:167719742-167719792	U87	brain:	n/a
17	chr5:167718483-167718533	HCF	heart:	n/a
18	chr5:167719742-167719792	SAEC	small airway:	n/a
19	chr5:167718496-167718546	HCF	heart:	n/a
20	chr5:167719478-167719528	HCPEpiC	choroid plexus:	n/a
21	chr5:167718524-167718574	GM12878	blood:	n/a
22	chr5:167718483-167718533	ovcar-3	ovarian:	n/a
23	chr5:167719262-167719312	HAEpiC	amniotic membrane:	n/a
24	chr5:167719687-167719737	HIPEpiC	eye:	n/a
25	chr5:167718496-167718546	Hela-S3	cervix:	n/a
26	chr5:167718982-167719032	RPTEC	kidney:	n/a
27	chr5:167718483-167718533	Caco-2	colon:	n/a
28	chr5:167719478-167719528	SK-N-MC	brain:	n/a
29	chr5:167719548-167719598	HRE	kidney:	n/a
30	chr5:167718536-167718586	GM12891	blood:	n/a
31	chr5:167719262-167719312	GM12878	blood:	n/a
32	chr5:167718124-167718174	HUVEC	blood vessel:	n/a
33	chr5:167719687-167719737	AoSMC	blood vessel:	n/a
34	chr5:167719687-167719737	U87	brain:	n/a
35	chr5:167718524-167718574	HCPEpiC	choroid plexus:	n/a
36	chr5:167719687-167719737	ECC-1	luminal epithelium:	n/a
37	chr5:167719262-167719312	HCPEpiC	choroid plexus:	n/a
38	chr5:167719548-167719598	HEK293	kidney:	embryo
39	chr5:167718496-167718546	HL-60	blood:	n/a
40	chr5:167719262-167719312	A549	lung:	n/a
41	chr5:167718483-167718533	HCPEpiC	choroid plexus:	n/a
42	chr5:167719478-167719528	NHBE	bronchial:	n/a
43	chr5:167718524-167718574	HNPCEpiC	eye:	n/a
44	chr5:167719742-167719792	H1-hESC	embryonic stem cell:	embryo
45	chr5:167718496-167718546	HRE	kidney:	n/a
46	chr5:167718496-167718546	AG09309	skin:	n/a
47	chr5:167719687-167719737	Jurkat	blood:	n/a
48	chr5:167718483-167718533	NT2-D1	testis:	n/a
49	chr5:167719214-167719264	T-47D	breast:	n/a
50	chr5:167718124-167718174	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
2	chr5:167718826..167719451-chrX:153626634..153627161,2	Hela-S3	cervix:
3	chr5:167718914..167721325-chr5:167913985..167916640,3	MCF-7	breast:
4	chr5:167718924..167721617-chr5:168004476..168006374,2	MCF-7	breast:
5	chr5:167720610..167721433-chr5:167743019..167743616,2	MCF-7	breast:
6	chr5:167719706..167722622-chr5:167894559..167896628,2	MCF-7	breast:
7	chr5:167716529..167718566-chr5:167880589..167883099,2	MCF-7	breast:
8	chr5:167703411..167705760-chr5:167716598..167718533,2	MCF-7	breast:
9	chr5:167696952..167697760-chr5:167717873..167718444,2	MCF-7	breast:
10	chr5:167720165..167722660-chr5:167828436..167831193,2	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
WWC1	CpG island
ENSG00000113643	chromatin interactions
ENSG00000113645	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000120137	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567394966	chr5:167717951-167717952	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536324040	chr5:167717961-167717962	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370613388	chr5:167717981-167717982	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569679344	chr5:167718018-167718019	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538667240	chr5:167718048-167718049	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs72838318	chr5:167718060-167718061	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs546705787	chr5:167718074-167718075	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572706706	chr5:167718081-167718082	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571364420	chr5:167718122-167718123	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541399334	chr5:167718132-167718133	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555125670	chr5:167718245-167718246	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575121487	chr5:167718273-167718274	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542712789	chr5:167718282-167718283	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562596040	chr5:167718290-167718291	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531285803	chr5:167718368-167718369	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187589030	chr5:167718397-167718398	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564770360	chr5:167718442-167718443	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374032750	chr5:167718452-167718453	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12655262	chr5:167718512-167718513	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs370211667	chr5:167718649-167718650	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547402867	chr5:167718666-167718667	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567106327	chr5:167718803-167718804	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529854764	chr5:167718834-167718835	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs12653143	chr5:167718848-167718849	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549835218	chr5:167719041-167719042	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569815903	chr5:167719066-167719067	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs200626560	chr5:167719141-167719142	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs4634370	chr5:167719143-167719144	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs375703595	chr5:167719152-167719153	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs370421132	chr5:167719153-167719154	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs535312961	chr5:167719204-167719205	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs374092809	chr5:167719240-167719241	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs200146764	chr5:167719247-167719248	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs376695378	chr5:167719268-167719269	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs554981874	chr5:167719346-167719347	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs6873297	chr5:167719396-167719397	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs575060558	chr5:167719422-167719423	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs544034089	chr5:167719482-167719483	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs556253315	chr5:167719488-167719489	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs576197059	chr5:167719538-167719539	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs544824533	chr5:167719566-167719567	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs148359245	chr5:167719591-167719592	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
43	rs527321403	chr5:167719606-167719607	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs62385602	chr5:167719631-167719632	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs537721214	chr5:167719640-167719641	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs529789915	chr5:167719655-167719656	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs71603855	chr5:167719700-167719701	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs77879543	chr5:167719733-167719734	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs72838320	chr5:167719745-167719746	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs72838323	chr5:167719770-167719771	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	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
Ovarian cancer	21720365	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16865294	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
Epilepsy	20502679	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167704600-167718000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:167709600-167718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:167709600-167718000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:167709600-167718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:167712600-167718400	Weak transcription	Gastric	stomach
6	chr5:167713000-167718000	Enhancers	Fetal Brain Male	brain
7	chr5:167713200-167718200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167713400-167718000	Enhancers	GM12878-XiMat	blood
9	chr5:167713600-167718000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:167713600-167718000	Enhancers	Placenta	Placenta
11	chr5:167713800-167718000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167714000-167718200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:167714600-167718200	Enhancers	Fetal Intestine Small	intestine
14	chr5:167715800-167718000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:167715800-167718000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:167715800-167718000	Weak transcription	Colonic Mucosa	Colon
17	chr5:167715800-167718000	Weak transcription	Esophagus	oesophagus
18	chr5:167715800-167718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:167716000-167718000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:167716200-167718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:167716200-167718000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:167716200-167718000	Enhancers	Liver	Liver
23	chr5:167716200-167718000	Weak transcription	Fetal Lung	lung
24	chr5:167716200-167718000	Enhancers	HMEC	breast
25	chr5:167716200-167718200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:167716200-167718200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:167716400-167718000	Enhancers	Hela-S3	cervix
28	chr5:167716400-167718000	Enhancers	NHEK	skin
29	chr5:167716400-167718200	Weak transcription	NH-A	brain
30	chr5:167717000-167718200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:167717200-167718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:167717200-167718000	Enhancers	Fetal Kidney	kidney
33	chr5:167717200-167718000	Weak transcription	Stomach Mucosa	stomach
34	chr5:167717200-167718200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:167717200-167718200	Enhancers	HSMMtube	muscle
36	chr5:167717400-167718000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:167717400-167718000	Enhancers	Fetal Brain Female	brain
38	chr5:167717800-167718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:167717800-167718000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:167717800-167718000	Enhancers	Fetal Intestine Large	intestine
41	chr5:167717800-167718200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:167717800-167718200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr5:167717800-167718200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:167717800-167718200	Enhancers	Pancreas	Pancrea
45	chr5:167717800-167718200	Flanking Active TSS	A549	lung
46	chr5:167717800-167718400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:167717800-167718400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:167717800-167718400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:167717800-167718400	Flanking Active TSS	HepG2	liver
50	chr5:167717800-167719200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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