Variant report

Variant	rs8001657
Chromosome Location	chr13:95744047-95744048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1080482	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12584534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12853981	0.85[CHB][hapmap]
rs12867863	0.82[ASN][1000 genomes]
rs12868708	0.85[CHB][hapmap]
rs1351257	0.81[ASN][1000 genomes]
rs1617785	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1628382	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs1630807	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs1678352	0.88[ASN][1000 genomes]
rs1678354	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1678363	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs1678366	0.91[ASN][1000 genomes]
rs1729759	0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1729760	0.88[ASN][1000 genomes]
rs1729775	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs17300696	0.85[CHB][hapmap]
rs1751059	0.95[CHB][hapmap]
rs2274401	0.85[CHB][hapmap]
rs34857509	0.81[ASN][1000 genomes]
rs35074427	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782944	0.85[CHB][hapmap]
rs3782945	0.85[CHB][hapmap]
rs3782946	0.85[CHB][hapmap]
rs3782949	0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4148527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148530	0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs4148532	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4148534	0.85[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs4148535	0.85[CHB][hapmap]
rs66502335	0.81[ASN][1000 genomes]
rs6650282	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs922522	0.85[CHB][hapmap]
rs9561775	0.85[CHB][hapmap]
rs9561778	0.85[CHB][hapmap]

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	nsv832688	chr13:95633193-95780198	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
2	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
3	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:95724200-95749600	Weak transcription	Fetal Intestine Large	intestine
7	chr13:95727000-95752600	Weak transcription	HSMM	muscle
8	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:95727600-95761000	Weak transcription	K562	blood
11	chr13:95727800-95744200	Weak transcription	Spleen	Spleen
12	chr13:95727800-95767800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr13:95728400-95778800	Weak transcription	Ovary	ovary
14	chr13:95728600-95744200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:95728600-95776000	Weak transcription	Gastric	stomach
16	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr13:95731600-95756000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:95731600-95756600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr13:95732800-95751800	Weak transcription	Primary T cells from cord blood	blood
20	chr13:95733600-95750000	Weak transcription	Lung	lung
21	chr13:95733800-95750000	Weak transcription	Fetal Intestine Small	intestine
22	chr13:95733800-95751600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:95740400-95752200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:95740400-95753000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:95740400-95756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:95740600-95748400	Weak transcription	GM12878-XiMat	blood
27	chr13:95740600-95752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:95740600-95772200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:95740800-95791200	Weak transcription	NHLF	lung
30	chr13:95741000-95756800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:95741400-95763400	Weak transcription	Left Ventricle	heart
32	chr13:95741600-95772600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr13:95741800-95751200	Weak transcription	HUVEC	blood vessel
34	chr13:95742600-95750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:95742800-95747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:95742800-95748000	Weak transcription	A549	lung
37	chr13:95742800-95755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:95743800-95744400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:95744000-95744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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