Variant report

Variant	rs2738182
Chromosome Location	chr8:6735769-6735770
allele	A/T
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	MYC	chr8:6735369-6735791	NB4	blood:	n/a	chr8:6735595-6735605
2	MAX	chr8:6735303-6735780	NB4	blood:	n/a	chr8:6735595-6735605
3	USF2	chr8:6735379-6735787	Hela-S3	cervix:	n/a	chr8:6735595-6735606
4	SMC3	chr8:6735241-6735858	Hela-S3	cervix:	n/a	n/a
5	USF1	chr8:6735476-6735796	H1-hESC	embryonic stem cell:	n/a	chr8:6735595-6735606
6	USF1	chr8:6735403-6735793	H1-hESC	embryonic stem cell:	n/a	chr8:6735595-6735606
7	RFX5	chr8:6735299-6735776	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr8:6735316-6735782	Hela-S3	cervix:	n/a	n/a
9	MAX	chr8:6735334-6735775	Hela-S3	cervix:	n/a	chr8:6735595-6735605
10	ELK1	chr8:6735362-6735771	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:6735191-6735790	Hela-S3	cervix:	n/a	chr8:6735498-6735509 chr8:6735496-6735509 chr8:6735496-6735507 chr8:6735498-6735507 chr8:6735496-6735509
12	MAX	chr8:6735299-6735771	Hela-S3	cervix:	n/a	chr8:6735595-6735605
13	RAD21	chr8:6735354-6735811	Hela-S3	cervix:	n/a	chr8:6735782-6735792
14	USF2	chr8:6735447-6735800	HepG2	liver:	n/a	chr8:6735595-6735606
15	TCF7L2	chr8:6735226-6735881	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr8:6735281-6735782	MCF-7	breast:	n/a	chr8:6735498-6735509 chr8:6735496-6735509 chr8:6735496-6735507 chr8:6735498-6735507 chr8:6735496-6735509
17	MAZ	chr8:6735345-6735778	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
DEFB1	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1799946	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2472143	0.85[EUR][1000 genomes]
rs2702829	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2702876	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2702885	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2738172	0.81[EUR][1000 genomes]
rs2738178	0.95[EUR][1000 genomes]
rs2738179	0.95[EUR][1000 genomes]
rs2738180	0.95[EUR][1000 genomes]
rs2741115	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2741116	0.86[EUR][1000 genomes]
rs2741118	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2741119	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2741123	0.89[EUR][1000 genomes]
rs2741124	0.82[EUR][1000 genomes]
rs2741127	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2741129	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2741132	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2741133	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2741134	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2741135	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2741137	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2741138	0.82[EUR][1000 genomes]
rs2741141	0.82[EUR][1000 genomes]
rs2977779	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2978859	0.81[EUR][1000 genomes]
rs2978863	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2980922	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5743404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv1034812	chr8:6578390-6920312	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv482865	chr8:6585920-6765111	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv1015244	chr8:6638899-6988914	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
16	esv2752262	chr8:6638899-7011075	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv1025587	chr8:6651912-7171085	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv465437	chr8:6655391-6829085	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv610007	chr8:6655391-6829085	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1031296	chr8:6673296-6920312	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv610009	chr8:6709805-6737121	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv890062	chr8:6717107-6883291	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv890063	chr8:6723033-6878837	Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv1024151	chr8:6727767-6770015	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv890064	chr8:6728298-6811559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv610010	chr8:6728298-6925869	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv890065	chr8:6728298-6940656	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
28	esv1848403	chr8:6729115-6920149	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv429845	chr8:6729645-7690320	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
30	nsv533147	chr8:6730517-6795070	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv1028441	chr8:6730766-6920312	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	nsv528374	chr8:6731503-6921404	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
33	esv1847373	chr8:6731720-6920149	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6729200-6738400	Weak transcription	Dnd41	blood
2	chr8:6734800-6735800	Enhancers	Adipose Nuclei	Adipose
3	chr8:6734800-6735800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr8:6734800-6736000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:6734800-6736000	Enhancers	Stomach Mucosa	stomach
6	chr8:6735200-6735800	Active TSS	Pancreas	Pancrea
7	chr8:6735200-6736000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:6735200-6736000	Enhancers	Placenta	Placenta
9	chr8:6735200-6736000	Flanking Active TSS	Hela-S3	cervix
10	chr8:6735400-6735800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:6735400-6735800	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:6735400-6735800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:6735400-6735800	Enhancers	NHEK	skin
14	chr8:6735400-6736000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:6735400-6736200	Enhancers	Fetal Intestine Large	intestine
16	chr8:6735400-6736200	Enhancers	Fetal Intestine Small	intestine
17	chr8:6735400-6736200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr8:6735600-6736000	Enhancers	Esophagus	oesophagus
19	chr8:6735600-6736000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:6735600-6736800	Enhancers	Liver	Liver

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