Variant report

Variant	rs7002041
Chromosome Location	chr8:95671117-95671118
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95624009..95626197-chr8:95669296..95672015,3	MCF-7	breast:
2	chr8:95649722..95658581-chr8:95663876..95674504,25	MCF-7	breast:
3	chr8:95659457..95664108-chr8:95669245..95672076,4	MCF-7	breast:
4	chr8:95668341..95672337-chr8:95674336..95678474,6	MCF-7	breast:
5	chr8:95664568..95666641-chr8:95667479..95671149,4	MCF-7	breast:
6	chr8:95668360..95671370-chr8:95672347..95675640,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104413	Chromatin interaction
ENSG00000261437	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10808670	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956921	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284609	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs4735321	1.00[CHB][hapmap]
rs6471454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6471455	1.00[ASN][1000 genomes]
rs6995823	1.00[ASN][1000 genomes]
rs7006343	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7386115	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7387427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7840357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95655600-95674000	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr8:95655600-95676600	Weak transcription	Esophagus	oesophagus
3	chr8:95655600-95701200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:95656000-95679800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:95656400-95701000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:95656600-95699200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:95656600-95701200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
11	chr8:95657200-95701200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:95657600-95699400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:95659000-95689800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:95659400-95673400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:95659600-95681200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:95660600-95698000	Weak transcription	Fetal Stomach	stomach
17	chr8:95662600-95694600	Weak transcription	Lung	lung
18	chr8:95663200-95679200	Weak transcription	Fetal Kidney	kidney
19	chr8:95663800-95690400	Weak transcription	Right Atrium	heart
20	chr8:95664600-95692600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:95665600-95685400	Weak transcription	Colonic Mucosa	Colon
22	chr8:95667000-95672000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:95667400-95671600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:95667400-95688400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr8:95668000-95687000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:95668400-95693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:95669400-95673600	Strong transcription	Fetal Intestine Small	intestine
28	chr8:95669400-95679200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:95670000-95674600	Strong transcription	Fetal Intestine Large	intestine
30	chr8:95670000-95678600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:95670400-95675000	Weak transcription	Placenta	Placenta
32	chr8:95670400-95676600	Weak transcription	Gastric	stomach
33	chr8:95670600-95671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:95670600-95677400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:95670800-95688600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:95670800-95690400	Strong transcription	HMEC	breast
37	chr8:95670800-95698800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:95671000-95673200	Strong transcription	Pancreas	Pancrea
40	chr8:95671000-95678800	Strong transcription	NHEK	skin
41	chr8:95671000-95688600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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