Variant report

Variant	rs2887831
Chromosome Location	chr2:187541810-187541811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187533999..187537755-chr2:187540182..187542423,3	K562	blood:
2	chr2:187534492..187537090-chr2:187539566..187542233,2	MCF-7	breast:
3	chr2:187532982..187536054-chr2:187540521..187542155,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10931252	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931254	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1123176	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11678136	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11683459	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11684356	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11684434	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11684626	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11695399	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs11885414	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11885416	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11886619	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11891192	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11891461	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11902171	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11903048	0.88[ASN][1000 genomes]
rs12612335	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12614008	1.00[ASN][1000 genomes]
rs12617531	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12619357	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12621915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16828148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16828163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16828175	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16828182	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16828214	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs2595389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs3213963	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36079004	0.81[ASN][1000 genomes]
rs3738919	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[ASN][1000 genomes]
rs3768784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768787	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3795865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3820739	0.88[ASN][1000 genomes]
rs3886170	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs58757504	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61762241	0.88[ASN][1000 genomes]
rs61764186	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61764188	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61764575	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61764576	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61764580	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61765186	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6723908	1.00[YRI][hapmap]
rs72905143	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72905150	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72905152	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72905154	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72905160	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72905169	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7584329	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs7589682	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187503400-187545000	Weak transcription	Hela-S3	cervix
3	chr2:187507800-187546600	Weak transcription	Small Intestine	intestine
4	chr2:187511400-187546600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:187511600-187545000	Strong transcription	Osteobl	bone
6	chr2:187513800-187546800	Strong transcription	NH-A	brain
7	chr2:187514600-187546200	Strong transcription	Placenta	Placenta
8	chr2:187516400-187543600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:187516600-187545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:187518800-187547200	Strong transcription	HUVEC	blood vessel
11	chr2:187520000-187545000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:187523000-187546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:187525000-187543200	Weak transcription	Thymus	Thymus
14	chr2:187527600-187543600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:187527600-187546400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:187527800-187542000	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:187527800-187542000	Strong transcription	HMEC	breast
18	chr2:187527800-187544200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:187528000-187543200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:187528000-187544000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:187528000-187544600	Strong transcription	HSMM	muscle
22	chr2:187528000-187548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:187528200-187543600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:187528400-187542600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:187528600-187543600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:187529000-187542400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:187529000-187548200	Weak transcription	Stomach Mucosa	stomach
28	chr2:187529200-187542000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:187529200-187542200	Strong transcription	Ovary	ovary
30	chr2:187529200-187542600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:187531800-187543600	Strong transcription	Fetal Lung	lung
32	chr2:187533200-187543600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:187534400-187542200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:187536200-187543800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:187536200-187546800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:187536200-187548200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:187536400-187543400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:187536400-187550000	Weak transcription	Gastric	stomach
39	chr2:187537000-187543200	Weak transcription	Esophagus	oesophagus
40	chr2:187537000-187543600	Weak transcription	Pancreas	Pancrea
41	chr2:187537400-187543400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:187537400-187545000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:187537600-187542000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:187537600-187543000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:187537600-187544200	Weak transcription	Fetal Brain Male	brain
46	chr2:187537600-187547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:187537800-187543400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:187538000-187542600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:187538000-187547200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:187538000-187548400	Weak transcription	H1 Cell Line	embryonic stem cell

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