Variant report

Variant	rs10183937
Chromosome Location	chr2:182670663-182670664
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181845007..181846793-chr2:182669919..182671758,2	K562	blood:

Variant related genes	Relation type
ENSG00000170035	Chromatin interaction

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

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

rs_ID	r²[population]
rs10183527	0.88[ASN][1000 genomes]
rs10190772	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs10803953	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930979	0.82[ASN][1000 genomes]
rs11884097	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11886921	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11891680	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11895376	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs11898530	0.81[AMR][1000 genomes]
rs11901603	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11902910	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12620901	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs13387144	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13414894	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13415272	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13424337	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13428496	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1343793	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16867502	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16867503	0.88[JPT][hapmap]
rs16867504	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2037799	0.87[ASN][1000 genomes]
rs2368225	0.87[ASN][1000 genomes]
rs2582999	0.81[ASN][1000 genomes]
rs4018749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4508561	0.92[ASN][1000 genomes]
rs57930770	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60384758	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6720578	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6740944	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754481	0.88[ASN][1000 genomes]
rs6758834	0.82[ASN][1000 genomes]
rs7567220	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7567371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567399	0.81[AFR][1000 genomes]
rs7595805	0.85[ASN][1000 genomes]
rs9288073	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9288074	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs937296	0.94[ASN][1000 genomes]
rs951542	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs951543	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182668600-182671400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:182668800-182670800	Enhancers	Dnd41	blood
3	chr2:182668800-182671000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:182668800-182671000	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:182668800-182671000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:182668800-182671000	Enhancers	HSMMtube	muscle
7	chr2:182668800-182671200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:182669000-182671000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:182669000-182671000	Enhancers	HMEC	breast
10	chr2:182669000-182671000	Enhancers	HSMM	muscle
11	chr2:182669000-182671200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:182669000-182671200	Enhancers	Osteobl	bone
13	chr2:182669200-182671000	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:182669200-182671000	Enhancers	K562	blood
15	chr2:182669200-182675600	Weak transcription	Thymus	Thymus
16	chr2:182669200-182676000	Weak transcription	Lung	lung
17	chr2:182669400-182670800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:182669400-182671000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:182669400-182671200	Enhancers	NH-A	brain
20	chr2:182669400-182675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:182669400-182675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:182669400-182675600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:182669400-182675800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:182669600-182671000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:182669600-182671000	Enhancers	Hela-S3	cervix
26	chr2:182669600-182671000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr2:182669600-182671200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:182669600-182671200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:182669600-182671200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:182669600-182675400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:182669800-182670800	Flanking Active TSS	HUVEC	blood vessel
32	chr2:182669800-182671000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:182669800-182671000	Enhancers	Adipose Nuclei	Adipose
34	chr2:182669800-182671000	Enhancers	NHDF-Ad	bronchial
35	chr2:182669800-182675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:182670000-182670800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:182670000-182670800	Flanking Active TSS	NHLF	lung
38	chr2:182670000-182671000	Enhancers	Fetal Kidney	kidney
39	chr2:182670000-182675600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:182670200-182670800	Enhancers	Stomach Mucosa	stomach
41	chr2:182670200-182671200	Enhancers	Fetal Stomach	stomach
42	chr2:182670200-182675800	Weak transcription	Primary T cells from cord blood	blood
43	chr2:182670400-182670800	Enhancers	Brain Anterior Caudate	brain
44	chr2:182670400-182670800	Enhancers	Brain Substantia Nigra	brain
45	chr2:182670400-182671000	Enhancers	Colon Smooth Muscle	Colon
46	chr2:182670400-182675200	Weak transcription	NHEK	skin
47	chr2:182670600-182670800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:182670600-182670800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:182670600-182670800	Enhancers	Esophagus	oesophagus
50	chr2:182670600-182670800	Enhancers	Fetal Intestine Large	intestine

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