Variant report

Variant	rs6984991
Chromosome Location	chr8:121587165-121587166
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121586914..121588422-chr9:132086514..132089138,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10098051	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10216544	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955977	0.83[ASN][1000 genomes]
rs11774895	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11782035	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782950	0.83[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs11786460	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11786755	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992085	0.83[CEU][hapmap];0.83[ASN][1000 genomes]
rs11993763	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13248824	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13249701	0.82[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13251609	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13253450	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13254959	0.83[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs13258818	0.86[CHD][hapmap]
rs13263202	0.81[ASN][1000 genomes]
rs13265960	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13271651	0.85[ASN][1000 genomes]
rs13273020	0.80[ASN][1000 genomes]
rs13277867	0.81[ASN][1000 genomes]
rs13278351	0.83[ASN][1000 genomes]
rs35721503	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4314683	0.82[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs4387016	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4395927	0.81[CHD][hapmap];0.88[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]
rs4455882	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4515597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582605	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4644306	0.96[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55885222	0.85[ASN][1000 genomes]
rs6469937	0.83[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6988919	0.83[CEU][hapmap];0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs6999061	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7460062	0.80[CEU][hapmap]
rs7820041	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7827513	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839488	0.81[GIH][hapmap];0.92[MEX][hapmap]
rs7846519	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121557800-121597400	Weak transcription	Osteobl	bone
2	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
5	chr8:121572400-121592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:121575200-121592800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:121575600-121597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:121575800-121587400	Weak transcription	NHDF-Ad	bronchial
9	chr8:121577600-121589000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:121579600-121587400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:121580400-121587800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:121580400-121593000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:121581000-121592400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:121581000-121592400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:121581400-121593600	Strong transcription	HepG2	liver
16	chr8:121581600-121589200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:121582400-121588400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:121582600-121589600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:121582800-121587400	Strong transcription	HSMMtube	muscle
20	chr8:121582800-121587800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:121582800-121589400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr8:121582800-121593200	Strong transcription	Liver	Liver
23	chr8:121583200-121590600	Weak transcription	Psoas Muscle	Psoas
24	chr8:121583200-121597400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:121583200-121598200	Weak transcription	Spleen	Spleen
26	chr8:121584200-121588200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:121584400-121587200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:121584400-121587400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:121584600-121587600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:121584600-121590000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:121585000-121601600	Weak transcription	Fetal Lung	lung
32	chr8:121585200-121587400	Strong transcription	Fetal Kidney	kidney
33	chr8:121585200-121589600	Strong transcription	Primary T cells from cord blood	blood
34	chr8:121585400-121587600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:121585400-121588600	Strong transcription	Primary B cells from cord blood	blood
36	chr8:121585800-121587400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:121586000-121587400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr8:121586000-121587400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:121586000-121587600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:121586000-121587600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:121586000-121587600	Strong transcription	NHLF	lung
42	chr8:121586200-121587400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:121586200-121587600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:121586200-121588200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:121586400-121587200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:121586400-121587200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:121586400-121587200	Strong transcription	Fetal Intestine Small	intestine
48	chr8:121586400-121587200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:121586400-121587400	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:121586400-121587400	Strong transcription	Rectal Mucosa Donor 29	rectum

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