Variant report

Variant	rs10195990
Chromosome Location	chr2:172250363-172250364
allele	C/G
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]
rs10171164	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10177689	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10186304	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198915	0.86[AMR][1000 genomes]
rs10202883	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210332	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13386613	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13388963	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395084	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396824	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13402901	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13414723	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608023	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663293	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4566333	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57629676	0.80[AFR][1000 genomes]
rs58367130	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58808521	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59235233	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59318451	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59449823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59599047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60523677	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62181354	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6712098	1.00[JPT][hapmap]
rs73976149	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976150	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976158	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73976177	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7580497	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973419	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973709	1.00[EUR][1000 genomes];1.00[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:172237800-172254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:172239200-172250400	Weak transcription	Fetal Heart	heart
7	chr2:172239200-172250600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:172239200-172257400	Weak transcription	K562	blood
9	chr2:172240600-172251000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:172243600-172253400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:172243800-172257800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:172244000-172257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:172245600-172251800	Weak transcription	Dnd41	blood
14	chr2:172246800-172255400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:172247200-172254200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
17	chr2:172248200-172257600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:172248200-172258000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:172248400-172251000	Weak transcription	HSMMtube	muscle
20	chr2:172248400-172257000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:172248400-172258000	Weak transcription	NHEK	skin
22	chr2:172248400-172258400	Weak transcription	HSMM	muscle
23	chr2:172248400-172259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:172248400-172259600	Weak transcription	Hela-S3	cervix
25	chr2:172248600-172251400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:172248600-172265400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:172248800-172251600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:172248800-172258000	Weak transcription	A549	lung
29	chr2:172249000-172251800	Weak transcription	HUVEC	blood vessel
30	chr2:172249000-172258400	Weak transcription	HepG2	liver
31	chr2:172249000-172259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:172249800-172250600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:172250000-172250600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:172250000-172251600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:172250000-172252600	Enhancers	GM12878-XiMat	blood
36	chr2:172250000-172253800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:172250200-172250800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:172250200-172250800	Enhancers	Primary B cells from cord blood	blood
39	chr2:172250200-172251600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:172250200-172251600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:172250200-172252000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:172250200-172252400	Enhancers	HUES48 Cell Line	embryonic stem cell

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