Variant report

Variant	rs7004762
Chromosome Location	chr8:3962737-3962738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10106149	0.82[JPT][hapmap]
rs11987667	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543779	0.83[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12543803	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12544203	0.95[JPT][hapmap]
rs12547734	1.00[JPT][hapmap]
rs12549072	0.95[JPT][hapmap]
rs12674985	0.88[CEU][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13259106	0.80[CEU][hapmap];0.84[CHD][hapmap]
rs1559570	0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1714791	0.96[CEU][hapmap];0.84[TSI][hapmap]
rs2059398	0.82[CHB][hapmap]
rs4242493	0.96[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4875278	0.80[CEU][hapmap]
rs4875279	0.94[JPT][hapmap]
rs4875280	0.95[JPT][hapmap]
rs5016258	0.95[JPT][hapmap]
rs6986954	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv530863	chr8:3710810-4381378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1016688	chr8:3754417-4003761	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv539364	chr8:3754417-4003761	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv931000	chr8:3791727-4088167	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv831212	chr8:3793931-3986154	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv889924	chr8:3828138-4180844	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1024308	chr8:3854987-3988435	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1015148	chr8:3889535-4103403	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv539366	chr8:3889535-4103403	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1033324	chr8:3890012-4031820	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv609798	chr8:3892017-4033186	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1034926	chr8:3895228-4033089	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv539367	chr8:3895228-4033089	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv971620	chr8:3897194-3968404	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
21	nsv1029302	chr8:3904707-3989947	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
22	nsv539368	chr8:3904707-3989947	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
23	nsv1029645	chr8:3911099-4026811	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv539369	chr8:3911099-4026811	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv889926	chr8:3912399-4040033	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1020444	chr8:3919413-4005116	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
27	nsv1025081	chr8:3919549-4054908	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv539370	chr8:3919549-4054908	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1024470	chr8:3919550-4033229	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv539371	chr8:3919550-4033229	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1027786	chr8:3925974-4026811	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv889928	chr8:3938816-4033186	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv517894	chr8:3942072-4033186	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv889929	chr8:3947325-3964022	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
36	nsv1020602	chr8:3951735-4074670	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1016712	chr8:3951992-4026811	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv517770	chr8:3960985-3964539	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
39	nsv522614	chr8:3960985-3964905	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3958600-3963800	Enhancers	HepG2	liver
2	chr8:3961200-3964800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:3961400-3962800	Enhancers	Stomach Mucosa	stomach
4	chr8:3961400-3963200	Enhancers	Brain Germinal Matrix	brain
5	chr8:3961400-3963200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:3961400-3964800	Enhancers	Fetal Brain Male	brain
7	chr8:3961400-3966000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:3961800-3962800	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:3961800-3962800	Enhancers	Brain Hippocampus Middle	brain
10	chr8:3961800-3965200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:3962000-3963000	Weak transcription	Right Atrium	heart
12	chr8:3962000-3964400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:3962000-3964600	Weak transcription	Fetal Heart	heart
14	chr8:3962200-3964400	Enhancers	Fetal Brain Female	brain
15	chr8:3962400-3962800	Weak transcription	Pancreas	Pancrea
16	chr8:3962400-3963400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:3962400-3964200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:3962400-3964400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:3962400-3964600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:3962400-3965000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:3962600-3962800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:3962600-3963000	Enhancers	Liver	Liver
23	chr8:3962600-3963400	Enhancers	Adipose Nuclei	Adipose
24	chr8:3962600-3963400	Enhancers	Fetal Lung	lung
25	chr8:3962600-3964200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:3962600-3964400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:3962600-3964400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:3962600-3964600	Weak transcription	Brain Substantia Nigra	brain

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