Variant report

Variant	rs56987972
Chromosome Location	chr2:184025988-184025989
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	chr2:184020158..184022833-chr2:184025922..184028556,2	K562	blood:
2	chr2:184018781..184021679-chr2:184025666..184028556,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1037968	1.00[EUR][1000 genomes]
rs10497623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11883551	1.00[AMR][1000 genomes]
rs11884352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11887082	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11889321	1.00[EUR][1000 genomes]
rs11890612	1.00[EUR][1000 genomes]
rs11890957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11898922	1.00[EUR][1000 genomes]
rs11899136	1.00[EUR][1000 genomes]
rs11900146	1.00[EUR][1000 genomes]
rs11904544	1.00[EUR][1000 genomes]
rs13422583	1.00[EUR][1000 genomes]
rs13425514	1.00[EUR][1000 genomes]
rs13432715	1.00[EUR][1000 genomes]
rs1462522	1.00[EUR][1000 genomes]
rs1462523	1.00[EUR][1000 genomes]
rs16823994	1.00[EUR][1000 genomes]
rs16824047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824100	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824139	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824141	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824239	1.00[EUR][1000 genomes]
rs16824259	1.00[EUR][1000 genomes]
rs2045760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2061657	1.00[EUR][1000 genomes]
rs2368356	1.00[EUR][1000 genomes]
rs2368374	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28807996	1.00[EUR][1000 genomes]
rs34386785	1.00[EUR][1000 genomes]
rs55985024	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57022552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58726290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58782215	1.00[EUR][1000 genomes]
rs59648361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60159376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60835883	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60857445	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61190837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61212352	1.00[EUR][1000 genomes]
rs6434010	1.00[EUR][1000 genomes]
rs6751386	1.00[EUR][1000 genomes]
rs6759272	1.00[EUR][1000 genomes]
rs73040916	1.00[EUR][1000 genomes]
rs73042731	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042751	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044730	1.00[EUR][1000 genomes]
rs73050588	1.00[EUR][1000 genomes]
rs73050593	1.00[EUR][1000 genomes]
rs73050598	1.00[EUR][1000 genomes]
rs7584986	1.00[EUR][1000 genomes]
rs898947	1.00[EUR][1000 genomes]
rs955597	1.00[EUR][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	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
6	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
11	chr2:183991400-184034000	Weak transcription	NHLF	lung
12	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
13	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
15	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:184009000-184028600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:184009200-184028400	Weak transcription	Brain Anterior Caudate	brain
20	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
21	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
22	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:184014200-184031400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:184014600-184030800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:184015000-184028800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:184015000-184029000	Weak transcription	HSMMtube	muscle
28	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
29	chr2:184015200-184028000	Weak transcription	Fetal Heart	heart
30	chr2:184015400-184027400	Weak transcription	Osteobl	bone
31	chr2:184016000-184030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:184016200-184030800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:184016600-184028200	Weak transcription	HUVEC	blood vessel
34	chr2:184016600-184028800	Weak transcription	Spleen	Spleen
35	chr2:184016800-184026600	Weak transcription	NHEK	skin
36	chr2:184017800-184027000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
38	chr2:184018600-184026600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:184019000-184026400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:184019000-184026400	Weak transcription	Thymus	Thymus
41	chr2:184019000-184028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:184019000-184028600	Weak transcription	Fetal Lung	lung
43	chr2:184019000-184028800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:184019000-184031200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:184019000-184036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:184019000-184043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:184019000-184050000	Weak transcription	Gastric	stomach
48	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
49	chr2:184019200-184028800	Weak transcription	Lung	lung
50	chr2:184019400-184030800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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