Variant report

Variant	rs2325820
Chromosome Location	chr8:118981935-118981936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10087446	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10097196	0.96[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10102745	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11781245	0.85[JPT][hapmap]
rs13256042	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13260665	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1462985	0.80[JPT][hapmap]
rs1466429	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17430540	0.80[JPT][hapmap]
rs17450835	0.80[JPT][hapmap]
rs2008799	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2168667	0.85[JPT][hapmap]
rs2199545	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219724	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2325821	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2447535	0.83[CHB][hapmap]
rs2447536	0.88[JPT][hapmap]
rs2447538	0.80[JPT][hapmap]
rs2447539	0.80[JPT][hapmap]
rs2447540	0.84[JPT][hapmap]
rs2514719	0.85[JPT][hapmap]
rs2514720	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2514727	0.86[ASN][1000 genomes]
rs4602926	0.80[JPT][hapmap]
rs4876777	0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4876781	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876782	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876783	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876784	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7815972	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7818831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9643120	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1965113	chr8:118981934-118981936	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118969800-118986800	Weak transcription	Lung	lung
2	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
3	chr8:118970800-118989000	Weak transcription	HUVEC	blood vessel
4	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
5	chr8:118971800-118983200	Weak transcription	Pancreas	Pancrea
6	chr8:118971800-118989000	Weak transcription	Ovary	ovary
7	chr8:118972000-118989600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:118972200-118989600	Weak transcription	HSMM	muscle
9	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:118973400-118982000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:118973400-118982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:118974400-118982000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:118974600-118987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:118975400-118983200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:118975400-118992400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:118976600-118991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:118976800-118988600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:118977200-118983200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:118978200-118992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:118978600-118993000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:118978800-118982000	Weak transcription	Small Intestine	intestine
22	chr8:118979000-118991000	Weak transcription	HepG2	liver
23	chr8:118979200-118988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:118979400-118983000	Weak transcription	NHLF	lung
25	chr8:118979400-118987000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:118980000-118982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:118980000-118982000	Weak transcription	Fetal Intestine Small	intestine
28	chr8:118980000-118982000	Weak transcription	Thymus	Thymus
29	chr8:118980200-118983000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:118981200-118990200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:118981200-118992400	Weak transcription	Left Ventricle	heart
32	chr8:118981400-118982000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:118981400-118982200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:118981600-118982000	Enhancers	Fetal Brain Female	brain
35	chr8:118981600-118982400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:118981600-118982400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:118981600-118982400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:118981600-118982400	Enhancers	Fetal Brain Male	brain
39	chr8:118981600-118982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:118981600-118983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:118981600-118983400	Genic enhancers	Osteobl	bone
42	chr8:118981600-118983600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:118981600-118983800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:118981600-118983800	Enhancers	Liver	Liver
45	chr8:118981600-118984000	Enhancers	HMEC	breast
46	chr8:118981600-118984200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:118981600-118984800	Enhancers	Dnd41	blood
48	chr8:118981800-118982000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:118981800-118982000	Enhancers	Colonic Mucosa	Colon
50	chr8:118981800-118982000	Enhancers	Fetal Stomach	stomach

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