Variant report

Variant	rs11686191
Chromosome Location	chr2:30763821-30763822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11892635	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1252639	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252641	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252643	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252647	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1614348	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1662941	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1662942	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1662944	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662949	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662955	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662958	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1723156	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1723167	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1723170	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723175	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2462562	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2692041	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28538173	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35418935	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4952124	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4952148	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72853154	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7562645	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829562	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829570	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829571	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829573	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829576	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829577	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829579	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829584	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829623	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829636	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829638	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829645	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829647	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829648	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829649	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829650	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829651	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829658	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829686	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829687	0.86[EUR][1000 genomes];0.87[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:30743000-30764600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:30743000-30764600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:30743000-30767400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:30743000-30768000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:30751000-30766800	Weak transcription	NHLF	lung
9	chr2:30753600-30770000	Weak transcription	Small Intestine	intestine
10	chr2:30753800-30768600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:30758400-30765800	Weak transcription	Aorta	Aorta
14	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
15	chr2:30758800-30784400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:30758800-30785000	Weak transcription	Left Ventricle	heart
17	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:30759000-30785200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:30759200-30767600	Weak transcription	Fetal Kidney	kidney
20	chr2:30759200-30805600	Weak transcription	K562	blood
21	chr2:30759400-30764400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:30759400-30764400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:30759400-30764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:30759400-30767000	Weak transcription	Fetal Heart	heart
25	chr2:30759400-30769600	Weak transcription	HepG2	liver
26	chr2:30759400-30785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:30759400-30785000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:30759400-30785000	Weak transcription	Dnd41	blood
29	chr2:30759600-30764000	Weak transcription	Primary B cells from cord blood	blood
30	chr2:30759600-30764400	Weak transcription	HSMM	muscle
31	chr2:30759600-30764600	Weak transcription	Primary T cells from cord blood	blood
32	chr2:30759600-30771200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:30759800-30764000	Weak transcription	A549	lung
35	chr2:30761200-30767600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:30762200-30767400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:30763000-30768000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:30763200-30764000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:30763400-30764000	Weak transcription	GM12878-XiMat	blood
40	chr2:30763600-30764000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:30763600-30764200	ZNF genes & repeats	Fetal Thymus	thymus
42	chr2:30763800-30764800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr2:30763800-30764800	ZNF genes & repeats	Fetal Lung	lung
44	chr2:30763800-30771800	Weak transcription	Fetal Intestine Small	intestine

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