Variant report

Variant	rs6998821
Chromosome Location	chr8:67444403-67444404
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67442224..67445363-chr8:67520078..67522956,3	MCF-7	breast:
2	chr8:67373454..67375848-chr8:67443609..67445864,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11985608	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11995298	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12543076	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12547731	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12547831	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16932954	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	1.00[ASN][1000 genomes]
rs34949628	0.99[ASN][1000 genomes]
rs62512590	0.97[ASN][1000 genomes]
rs62512592	0.95[ASN][1000 genomes]
rs62512594	0.99[ASN][1000 genomes]
rs62512597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982757	1.00[ASN][1000 genomes]
rs6997318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008801	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011235	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73259750	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67435400-67445000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:67435600-67446000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:67435600-67448600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:67436000-67446800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:67436000-67448000	Weak transcription	Spleen	Spleen
6	chr8:67437800-67454000	Weak transcription	Psoas Muscle	Psoas
7	chr8:67439000-67444600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:67439400-67445000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:67439800-67445000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:67439800-67454400	Weak transcription	Right Atrium	heart
11	chr8:67440600-67445000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:67440800-67445000	Weak transcription	Hela-S3	cervix
13	chr8:67441000-67445000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:67441000-67445200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:67441400-67445200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:67443000-67449600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:67443200-67445000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:67443200-67445000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:67443200-67447600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:67443400-67444600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:67443400-67445000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:67443400-67445400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:67443400-67447000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:67443400-67448000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:67443600-67445000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:67443600-67445000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:67443600-67445200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:67443600-67445400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:67443600-67445400	Enhancers	HSMM	muscle
30	chr8:67443600-67445400	Enhancers	NH-A	brain
31	chr8:67443600-67445400	Enhancers	NHDF-Ad	bronchial
32	chr8:67443600-67445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:67443600-67445800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:67443600-67445800	Enhancers	HMEC	breast
35	chr8:67443600-67446000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:67443600-67446000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:67443600-67447600	Enhancers	NHLF	lung
38	chr8:67443600-67449400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:67443600-67450200	Enhancers	Placenta	Placenta
40	chr8:67443800-67445200	Weak transcription	Fetal Brain Female	brain
41	chr8:67443800-67445400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:67443800-67445400	Enhancers	NHEK	skin
43	chr8:67443800-67446800	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:67443800-67447600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:67443800-67447600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:67443800-67449400	Enhancers	HSMMtube	muscle
47	chr8:67443800-67449600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:67444000-67445200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:67444000-67445200	Weak transcription	Fetal Lung	lung
50	chr8:67444000-67445800	Weak transcription	Brain Germinal Matrix	brain

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