Variant report

Variant	rs2976872
Chromosome Location	chr8:8313662-8313663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8145200..8147453-chr8:8312155..8314860,2	MCF-7	breast:
2	chr8:8297402..8302075-chr8:8309900..8314859,7	MCF-7	breast:
3	chr8:8241777..8245267-chr8:8311182..8314962,7	MCF-7	breast:
4	chr8:8298645..8300548-chr8:8312022..8313794,2	MCF-7	breast:
5	chr8:8311665..8315626-chr8:8317447..8320934,9	MCF-7	breast:
6	chr8:8312145..8315725-chr8:8317532..8320911,6	MCF-7	breast:
7	chr8:8241273..8244866-chr8:8311320..8315481,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254153	Chromatin interaction
ENSG00000182319	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1107826	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2921042	0.82[CHB][hapmap]
rs2921044	0.81[CHB][hapmap]
rs2921045	0.81[CHB][hapmap]
rs2921065	0.92[ASN][1000 genomes]
rs2921069	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2976868	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2976871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2976874	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2979162	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2979182	0.81[CHB][hapmap]
rs2980757	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980764	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980770	0.81[CHB][hapmap]
rs2980772	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs729874	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs876955	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
14	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv465449	chr8:8262897-8362710	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv610158	chr8:8262897-8362710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv610171	chr8:8290294-8328101	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1025136	chr8:8290818-8326308	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1034903	chr8:8295208-8324479	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv539454	chr8:8295208-8324479	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv519143	chr8:8296071-8328101	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv610172	chr8:8313010-8362710	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv465452	chr8:8313010-8450761	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv610173	chr8:8313010-8450761	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8311000-8318600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:8312200-8314000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:8312200-8314000	Enhancers	Esophagus	oesophagus
4	chr8:8312200-8314000	Enhancers	Placenta	Placenta
5	chr8:8312200-8321000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr8:8312400-8313800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:8312400-8316000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:8313000-8314200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:8313000-8314400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:8313000-8315600	Enhancers	HepG2	liver
11	chr8:8313200-8313800	Active TSS	Colonic Mucosa	Colon
12	chr8:8313200-8313800	Enhancers	NH-A	brain
13	chr8:8313200-8314000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:8313200-8314000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:8313200-8314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:8313200-8314000	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:8313200-8314000	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:8313200-8314000	Enhancers	Fetal Muscle Leg	muscle
19	chr8:8313200-8314000	Enhancers	Gastric	stomach
20	chr8:8313200-8314000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr8:8313200-8314000	Enhancers	Osteobl	bone
22	chr8:8313200-8314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:8313200-8314200	Enhancers	HMEC	breast
24	chr8:8313200-8314400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:8313200-8315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:8313200-8316200	Enhancers	NHEK	skin
27	chr8:8313400-8313800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:8313400-8313800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:8313400-8313800	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr8:8313400-8313800	Flanking Active TSS	Pancreas	Pancrea
31	chr8:8313400-8313800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:8313400-8313800	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:8313400-8313800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:8313400-8313800	Flanking Active TSS	Stomach Mucosa	stomach
35	chr8:8313400-8314000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:8313400-8314000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:8313400-8314000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:8313400-8314000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:8313400-8314000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:8313400-8314000	Flanking Active TSS	HSMM	muscle
41	chr8:8313400-8314000	Flanking Active TSS	HSMMtube	muscle
42	chr8:8313400-8314000	Enhancers	NHDF-Ad	bronchial
43	chr8:8313400-8314200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:8313400-8314200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:8313400-8314200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:8313400-8314200	Flanking Active TSS	A549	lung
47	chr8:8313400-8314200	Flanking Active TSS	Hela-S3	cervix
48	chr8:8313400-8317600	Weak transcription	Lung	lung
49	chr8:8313600-8313800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:8313600-8313800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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