Variant report

Variant	rs7008801
Chromosome Location	chr8:67447653-67447654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67444540..67447904-chr8:67523578..67525428,3	MCF-7	breast:
2	chr8:67447197..67449396-chr8:67456898..67458873,2	MCF-7	breast:
3	chr8:67424863..67425423-chr8:67446937..67447756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185697	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11985608	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11995298	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[ASN][1000 genomes]
rs12543076	0.80[ASW][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs12547731	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12547831	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16932954	0.86[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs34346108	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34949628	0.99[ASN][1000 genomes]
rs62512590	0.97[ASN][1000 genomes]
rs62512592	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62512594	0.99[ASN][1000 genomes]
rs62512597	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982757	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6997318	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73259750	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7823762	0.99[ASN][1000 genomes]
rs7832611	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs7839827	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67435600-67448600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:67436000-67448000	Weak transcription	Spleen	Spleen
3	chr8:67437800-67454000	Weak transcription	Psoas Muscle	Psoas
4	chr8:67439800-67454400	Weak transcription	Right Atrium	heart
5	chr8:67443000-67449600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:67443400-67448000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:67443600-67449400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:67443600-67450200	Enhancers	Placenta	Placenta
9	chr8:67443800-67449400	Enhancers	HSMMtube	muscle
10	chr8:67443800-67449600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:67444200-67447800	Weak transcription	Aorta	Aorta
12	chr8:67444200-67448200	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:67444200-67454000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:67444600-67448800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:67444800-67449000	Enhancers	Fetal Thymus	thymus
16	chr8:67444800-67449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:67445000-67448800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:67445000-67449600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:67445000-67449800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:67445000-67449800	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:67445200-67449000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:67445200-67449000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:67445400-67447800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:67445400-67448400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:67445400-67448600	Flanking Active TSS	A549	lung
26	chr8:67445400-67448800	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:67445400-67448800	Enhancers	Adipose Nuclei	Adipose
28	chr8:67445600-67448600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:67445800-67448400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:67445800-67449000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:67446000-67447800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:67446000-67448000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:67446000-67448800	Enhancers	Esophagus	oesophagus
34	chr8:67446000-67449200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr8:67446200-67447800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:67446200-67447800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:67446200-67448000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr8:67446200-67448400	Enhancers	Thymus	Thymus
39	chr8:67446200-67448600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:67446200-67448600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr8:67446200-67448800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:67446200-67449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:67446200-67449600	Enhancers	HMEC	breast
44	chr8:67446200-67454000	Weak transcription	Pancreas	Pancrea
45	chr8:67446200-67454000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:67446400-67447800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:67446400-67448400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:67446600-67448000	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:67446600-67448200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:67446600-67448400	Flanking Active TSS	Hela-S3	cervix

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