Variant report

Variant	rs9642948
Chromosome Location	chr8:99217905-99217906
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	chr8:99207817..99209426-chr8:99217584..99220282,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10086902	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10095850	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1129891	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1319283	0.81[JPT][hapmap]
rs13264255	0.85[ASN][1000 genomes]
rs2002424	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2053935	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2122928	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2443568	0.81[JPT][hapmap]
rs2514323	0.81[JPT][hapmap]
rs2514329	0.81[JPT][hapmap]
rs3735885	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3735887	0.82[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4734391	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734392	0.93[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735536	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4735538	0.93[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62522244	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6991266	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6996271	0.89[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7005080	0.81[JPT][hapmap]
rs7833247	0.93[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7838769	0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs896416	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99197000-99219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:99198200-99239200	Weak transcription	Lung	lung
4	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:99205600-99220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:99206600-99224400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:99206600-99239800	Weak transcription	Pancreas	Pancrea
9	chr8:99208000-99227600	Weak transcription	Esophagus	oesophagus
10	chr8:99211200-99243200	Weak transcription	Fetal Lung	lung
11	chr8:99211600-99219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:99212000-99220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:99213200-99223600	Weak transcription	HMEC	breast
14	chr8:99213200-99225800	Weak transcription	Fetal Heart	heart
15	chr8:99213200-99239800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:99214600-99223400	Weak transcription	NHEK	skin
17	chr8:99215000-99218400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:99215000-99223600	Weak transcription	Gastric	stomach
19	chr8:99215000-99227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:99215200-99218200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr8:99215400-99225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:99215400-99227600	Weak transcription	Ovary	ovary
23	chr8:99215800-99225000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:99216400-99220000	Weak transcription	Osteobl	bone
25	chr8:99216600-99245400	Weak transcription	Stomach Mucosa	stomach
26	chr8:99216800-99224800	Weak transcription	Left Ventricle	heart
27	chr8:99217000-99229800	Weak transcription	Psoas Muscle	Psoas
28	chr8:99217000-99234400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:99217000-99234600	Weak transcription	Fetal Intestine Large	intestine
30	chr8:99217200-99222800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:99217200-99223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:99217200-99229200	Weak transcription	Aorta	Aorta
33	chr8:99217400-99219000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:99217400-99227600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:99217400-99238800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:99217600-99220200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:99217800-99220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:99217800-99222400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:99217800-99235000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:99217800-99238600	Weak transcription	Primary hematopoietic stem cells	blood

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