Variant report

Variant	rs11984541
Chromosome Location	chr8:62508727-62508728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62502517..62504519-chr8:62506579..62509041,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11782345	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs12675597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882460	0.83[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs60403482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471962	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66516703	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795450	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017995	0.84[ASN][1000 genomes]
rs7822250	0.89[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs7834148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836217	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:62493200-62512400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:62494200-62511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:62494200-62511800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:62494200-62512400	Weak transcription	Brain Anterior Caudate	brain
7	chr8:62494200-62519400	Weak transcription	Esophagus	oesophagus
8	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:62497000-62508800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:62498400-62521200	Weak transcription	Ovary	ovary
14	chr8:62499200-62519400	Weak transcription	Liver	Liver
15	chr8:62503000-62509400	Enhancers	NHDF-Ad	bronchial
16	chr8:62503000-62521200	Weak transcription	Aorta	Aorta
17	chr8:62503200-62508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:62503400-62509000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:62504800-62509400	Weak transcription	Small Intestine	intestine
20	chr8:62504800-62512600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:62504800-62516600	Weak transcription	NH-A	brain
22	chr8:62504800-62526800	Weak transcription	NHEK	skin
23	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
24	chr8:62505400-62509400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:62506200-62512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:62506200-62528800	Weak transcription	HepG2	liver
27	chr8:62506400-62509400	Genic enhancers	A549	lung
28	chr8:62506400-62526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:62506800-62511200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:62507600-62509000	Enhancers	Hela-S3	cervix
32	chr8:62507600-62509200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:62507800-62508800	Enhancers	Fetal Brain Female	brain
34	chr8:62508000-62508800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:62508000-62509000	Enhancers	HMEC	breast
36	chr8:62508000-62509000	Genic enhancers	NHLF	lung
37	chr8:62508200-62508800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:62508200-62508800	Enhancers	Left Ventricle	heart
39	chr8:62508200-62508800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:62508200-62509000	Enhancers	Placenta	Placenta
41	chr8:62508200-62509200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:62508200-62509200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:62508200-62509200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:62508200-62509200	Genic enhancers	Adipose Nuclei	Adipose
45	chr8:62508200-62509400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:62508400-62508800	Genic enhancers	Lung	lung
47	chr8:62508400-62509000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:62508400-62509000	Strong transcription	Fetal Stomach	stomach
49	chr8:62508400-62509000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr8:62508400-62509200	Strong transcription	Fetal Intestine Small	intestine

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