Variant report

Variant	rs6982469
Chromosome Location	chr8:66720826-66720827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66630735..66632714-chr8:66718636..66720891,2	K562	blood:
2	chr8:66711497..66714228-chr8:66717933..66720911,3	MCF-7	breast:
3	chr8:66720162..66723066-chr8:66729017..66730753,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11774586	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11776756	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11777019	0.86[EUR][1000 genomes]
rs11779350	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11783534	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11784267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1355830	0.82[EUR][1000 genomes]
rs2357474	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs55738339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56295337	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7845030	0.82[EUR][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	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66711000-66721600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr8:66711000-66722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:66713800-66721000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr8:66714200-66723400	Weak transcription	Brain Germinal Matrix	brain
6	chr8:66714800-66734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:66715400-66723400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:66716000-66721400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:66716000-66721800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:66716000-66721800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:66716200-66738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:66716400-66723600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:66716600-66721400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:66716600-66723200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:66717200-66730600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:66717400-66730600	Weak transcription	A549	lung
17	chr8:66717600-66723000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:66718000-66723400	Weak transcription	Pancreas	Pancrea
19	chr8:66718200-66721800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:66718200-66723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:66718200-66723400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:66718200-66731600	Weak transcription	Stomach Mucosa	stomach
23	chr8:66718600-66723400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:66718800-66721800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:66719000-66730800	Weak transcription	Ovary	ovary
26	chr8:66719200-66723000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:66719200-66723200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:66719200-66723400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:66719200-66723400	Weak transcription	Liver	Liver
30	chr8:66719200-66729400	Weak transcription	K562	blood
31	chr8:66719200-66730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:66719200-66730800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:66719200-66734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:66719400-66721000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:66719400-66722200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:66719400-66723400	Weak transcription	Fetal Thymus	thymus
37	chr8:66719400-66724000	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:66719400-66738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
40	chr8:66720000-66721200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:66720000-66721200	Enhancers	Primary B cells from cord blood	blood
42	chr8:66720000-66721400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:66720000-66723200	Weak transcription	Small Intestine	intestine
44	chr8:66720000-66734400	Weak transcription	NHLF	lung
45	chr8:66720000-66736800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:66720400-66721000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:66720400-66721000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:66720400-66721400	Enhancers	Primary T cells from cord blood	blood
49	chr8:66720400-66721600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:66720400-66723400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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