Variant report

Variant	rs972376
Chromosome Location	chr8:91023627-91023628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91015312..91017008-chr8:91022823..91025081,2	K562	blood:
2	chr8:91012974..91015135-chr8:91023190..91025201,2	MCF-7	breast:
3	chr8:91016481..91019330-chr8:91020288..91024587,4	MCF-7	breast:
4	chr8:91021301..91024029-chr8:91024257..91028191,5	MCF-7	breast:
5	chr8:91022661..91026368-chr8:91026932..91029627,3	K562	blood:
6	chr8:91023557..91026368-chr8:91026932..91029581,2	K562	blood:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10091400	1.00[CHB][hapmap]
rs10098170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10099102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024156	1.00[CHB][hapmap]
rs10282890	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504886	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076559	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986818	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992886	1.00[CHB][hapmap]
rs11995294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114835	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13312839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312973	1.00[CHB][hapmap]
rs13312981	1.00[CHB][hapmap]
rs13312987	1.00[CHB][hapmap]
rs16901426	1.00[CHB][hapmap]
rs16901712	1.00[CHB][hapmap]
rs1805785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs1805805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376519	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28654557	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58332188	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470477	1.00[CHB][hapmap]
rs6470521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985667	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986890	1.00[CHB][hapmap]
rs6992671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998735	1.00[CHB][hapmap]
rs7000851	1.00[CHB][hapmap]
rs7001024	1.00[CHB][hapmap]
rs7004411	1.00[CHB][hapmap]
rs7004759	1.00[CHB][hapmap]
rs7005583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7017304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72550706	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741779	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821822	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823833	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828593	1.00[CHB][hapmap]
rs7829683	1.00[CHB][hapmap]
rs7831876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983925	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS 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	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
5	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
6	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
9	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
12	chr8:91015000-91024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:91015000-91031200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:91015000-91031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:91015200-91025000	Weak transcription	NHLF	lung
16	chr8:91015400-91024800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:91015400-91031200	Weak transcription	HSMMtube	muscle
18	chr8:91015400-91031400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:91015400-91031400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:91015400-91031400	Weak transcription	Fetal Kidney	kidney
21	chr8:91015600-91031200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
23	chr8:91015800-91029000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:91015800-91031200	Weak transcription	Brain Anterior Caudate	brain
25	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:91015800-91033200	Weak transcription	Stomach Mucosa	stomach
28	chr8:91016000-91024800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:91016200-91024800	Weak transcription	NHDF-Ad	bronchial
30	chr8:91017400-91028600	Enhancers	Fetal Heart	heart
31	chr8:91017400-91031000	Weak transcription	HSMM	muscle
32	chr8:91018200-91031400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:91018400-91024800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:91018400-91031000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:91018400-91031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:91018400-91031200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:91018400-91031400	Weak transcription	Fetal Stomach	stomach
38	chr8:91018400-91031400	Weak transcription	Thymus	Thymus
39	chr8:91018400-91034400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:91018600-91024800	Weak transcription	Fetal Lung	lung
41	chr8:91018600-91024800	Weak transcription	Dnd41	blood
42	chr8:91018600-91031200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:91018600-91031200	Weak transcription	Osteobl	bone
44	chr8:91018600-91065400	Weak transcription	HMEC	breast
45	chr8:91018800-91027800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:91018800-91028000	Weak transcription	Fetal Thymus	thymus
47	chr8:91018800-91031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:91019000-91025000	Weak transcription	Lung	lung
49	chr8:91019000-91031400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain

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