Variant report

Variant	rs11695124
Chromosome Location	chr2:184025278-184025279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:184022891..184025672-chr2:184035459..184037994,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10167583	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10194747	0.83[EUR][1000 genomes]
rs13033866	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1400131	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1462532	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1462533	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1829122	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882444	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2368375	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2368377	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2368382	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2675045	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2675046	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2675082	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2675087	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2675090	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2675102	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2675108	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2705760	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2944353	0.84[AMR][1000 genomes]
rs2952361	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2952363	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3791249	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4599071	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4666891	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666894	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666897	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6705441	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6709729	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6713182	0.80[ASN][1000 genomes]
rs6714769	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6733392	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67391943	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6744793	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6754942	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761345	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67952840	0.80[ASN][1000 genomes]
rs68009860	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7600893	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7601311	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs925806	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
4	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
5	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
7	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
12	chr2:183991400-184034000	Weak transcription	NHLF	lung
13	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
14	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
16	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:183996400-184025800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:184009000-184028600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:184009200-184025600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:184009200-184025800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:184009200-184028400	Weak transcription	Brain Anterior Caudate	brain
24	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
25	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
26	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:184013800-184025800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:184014200-184031400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:184014600-184030800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:184015000-184028800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:184015000-184029000	Weak transcription	HSMMtube	muscle
33	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
34	chr2:184015200-184028000	Weak transcription	Fetal Heart	heart
35	chr2:184015400-184027400	Weak transcription	Osteobl	bone
36	chr2:184016000-184030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:184016200-184030800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:184016600-184028200	Weak transcription	HUVEC	blood vessel
39	chr2:184016600-184028800	Weak transcription	Spleen	Spleen
40	chr2:184016800-184026600	Weak transcription	NHEK	skin
41	chr2:184017800-184027000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
43	chr2:184018600-184026600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:184019000-184025600	Weak transcription	Fetal Brain Female	brain
45	chr2:184019000-184026400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:184019000-184026400	Weak transcription	Thymus	Thymus
47	chr2:184019000-184028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:184019000-184028600	Weak transcription	Fetal Lung	lung
49	chr2:184019000-184028800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:184019000-184031200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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