Variant report

Variant	rs1375193
Chromosome Location	chr8:59846943-59846944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1015794	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504269	0.83[CHB][hapmap]
rs12543935	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675191	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13262230	0.80[ASN][1000 genomes]
rs13280926	0.86[CHB][hapmap]
rs1349113	0.80[ASN][1000 genomes]
rs1375191	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1375192	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1448547	0.95[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1448549	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17299611	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1900773	0.95[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1900774	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2044643	0.82[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2197803	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2326268	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780001	1.00[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4527857	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4527858	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737526	0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737527	0.82[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4738736	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738743	0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs55746401	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56024919	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56073120	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58180923	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6415583	0.82[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs66954327	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983623	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6983967	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6988253	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7001367	0.86[CHB][hapmap]
rs7001614	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7002226	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012303	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72651323	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72651324	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72651329	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7812381	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs7813733	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826756	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7827417	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834158	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842858	1.00[ASW][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap]
rs7845800	0.82[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]

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	esv3398816	chr8:59846882-59847058	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59811400-59851400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:59811600-59849000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:59811800-59848800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:59817000-59847000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:59817800-59867800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:59824200-59849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:59831200-59860200	Weak transcription	Gastric	stomach
8	chr8:59834000-59860400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:59834400-59850800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:59835800-59851400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:59837200-59858200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:59839000-59860000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:59839400-59851400	Weak transcription	Fetal Brain Female	brain
14	chr8:59839600-59857600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:59840000-59849600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:59840000-59854000	Strong transcription	Dnd41	blood
17	chr8:59840200-59848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:59840400-59850400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:59840400-59850400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:59840600-59849000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:59840800-59850200	Weak transcription	Fetal Stomach	stomach
22	chr8:59840800-59850400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:59841000-59848200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:59841000-59848400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:59841000-59848800	Weak transcription	Thymus	Thymus
26	chr8:59841000-59858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:59841000-59859000	Weak transcription	Fetal Intestine Small	intestine
28	chr8:59841000-59861800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:59842400-59851400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:59843000-59852600	Strong transcription	Primary T cells from cord blood	blood
31	chr8:59843800-59863600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:59844400-59851200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:59844600-59853400	Strong transcription	Fetal Thymus	thymus
34	chr8:59845200-59847600	Enhancers	Osteobl	bone
35	chr8:59845200-59851600	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:59845600-59847000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:59846200-59847200	Enhancers	NHDF-Ad	bronchial
38	chr8:59846200-59847400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:59846200-59847600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:59846200-59848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:59846400-59847200	Enhancers	NH-A	brain
42	chr8:59846400-59847400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:59846400-59847600	Enhancers	Small Intestine	intestine
44	chr8:59846600-59847400	Enhancers	Stomach Mucosa	stomach
45	chr8:59846600-59848800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:59846600-59849000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:59846800-59847000	Enhancers	HUVEC	blood vessel

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