Variant report

Variant	rs7011381
Chromosome Location	chr8:121073446-121073447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120883686..120886465-chr8:121071792..121074526,2	MCF-7	breast:
2	chr8:120992487..120993376-chr8:121072550..121073500,6	MCF-7	breast:
3	chr8:120886386..120887290-chr8:121072685..121073939,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245330	Chromatin interaction
ENSG00000155792	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10087490	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095170	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102329	0.83[AMR][1000 genomes]
rs10107163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109973	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112515	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113201	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17236463	1.00[CHB][hapmap]
rs28390204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871831	1.00[JPT][hapmap]
rs6988923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996253	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996604	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7015419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017084	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675747	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7819380	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7824041	1.00[CEU][hapmap]
rs7841443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297610	1.00[CEU][hapmap]
rs9297611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656933	1.00[CEU][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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
2	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:121064200-121074800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:121064400-121077200	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:121064400-121077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:121064600-121077200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:121066400-121074800	Weak transcription	Gastric	stomach
8	chr8:121069600-121077400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:121070800-121082200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:121071200-121074000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:121072600-121073600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:121072600-121073600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:121072600-121073600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:121072600-121073600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:121072600-121073600	Enhancers	NHEK	skin
16	chr8:121072600-121074200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:121072600-121074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:121072600-121077200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:121072800-121073600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:121072800-121073600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:121072800-121073600	Enhancers	Brain Substantia Nigra	brain
22	chr8:121072800-121073600	Enhancers	Colon Smooth Muscle	Colon
23	chr8:121072800-121073600	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:121072800-121073600	Enhancers	HSMMtube	muscle
25	chr8:121072800-121073600	Enhancers	Osteobl	bone
26	chr8:121072800-121074000	Enhancers	Brain Angular Gyrus	brain
27	chr8:121072800-121074200	Enhancers	Fetal Kidney	kidney
28	chr8:121072800-121078000	Enhancers	Liver	Liver
29	chr8:121073000-121074200	Enhancers	Fetal Intestine Large	intestine
30	chr8:121073000-121074200	Enhancers	Fetal Intestine Small	intestine
31	chr8:121073200-121073600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:121073200-121077200	Weak transcription	Fetal Lung	lung
33	chr8:121073200-121077400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:121073200-121077400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:121073200-121080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:121073200-121080800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:121073200-121081400	Weak transcription	Psoas Muscle	Psoas
38	chr8:121073400-121073600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:121073400-121074800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:121073400-121075400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:121073400-121075600	Weak transcription	Stomach Mucosa	stomach
42	chr8:121073400-121077200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:121073400-121077200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:121073400-121081800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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