Variant report

Variant	rs13249701
Chromosome Location	chr8:121617288-121617289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121464599..121465793-chr8:121617159..121618618,14	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10955977	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774895	0.91[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11782035	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11782950	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992085	0.95[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11993763	0.90[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13248824	0.86[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs13251609	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254959	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258818	0.86[CHB][hapmap]
rs13261532	0.94[ASN][1000 genomes]
rs13263202	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13265960	0.90[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13271651	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13273020	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277867	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13278351	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35721503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4314683	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4387016	0.91[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4515597	0.82[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4562365	0.87[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4582605	0.90[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55885222	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984991	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]
rs6988919	0.95[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7827513	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7846519	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv612113	chr8:121616345-121635396	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
7	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:121605800-121644400	Weak transcription	Gastric	stomach
9	chr8:121606200-121626200	Weak transcription	HSMMtube	muscle
10	chr8:121607400-121623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
12	chr8:121608400-121618600	Strong transcription	HepG2	liver
13	chr8:121609600-121641000	Weak transcription	Lung	lung
14	chr8:121609800-121629000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:121609800-121629000	Weak transcription	Fetal Stomach	stomach
16	chr8:121610200-121623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:121610400-121627400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:121610600-121619800	Weak transcription	Primary T cells from cord blood	blood
19	chr8:121610800-121629800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:121611400-121624400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:121612800-121619800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:121613200-121621600	Weak transcription	Spleen	Spleen
23	chr8:121613200-121622800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:121613200-121623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
26	chr8:121613400-121617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:121613400-121617600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121613400-121617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:121613400-121637200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:121614200-121618000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:121614600-121617400	Weak transcription	Osteobl	bone
32	chr8:121614800-121617400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:121614800-121617400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:121614800-121617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:121614800-121617600	Weak transcription	NHLF	lung
36	chr8:121614800-121627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:121615000-121617400	Weak transcription	NHDF-Ad	bronchial
38	chr8:121615400-121624400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:121616000-121637200	Weak transcription	HSMM	muscle
40	chr8:121616600-121621600	Weak transcription	Liver	Liver
41	chr8:121616600-121639000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:121616800-121624400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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