Variant report

Variant	rs3771236
Chromosome Location	chr2:20415158-20415159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20340564..20344464-chr2:20412010..20415688,4	MCF-7	breast:
2	chr2:20414820..20416839-chr2:20419190..20421088,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1043400	0.82[CEU][hapmap]
rs10495704	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1106111	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11096648	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11096649	0.91[ASN][1000 genomes]
rs11096650	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11888357	0.82[CEU][hapmap]
rs11895228	0.83[CEU][hapmap]
rs12373772	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12373819	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12464428	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13415389	0.86[ASN][1000 genomes]
rs2002090	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007340	0.91[ASN][1000 genomes]
rs3732162	0.85[CEU][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3732163	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3732164	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755300	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771227	0.87[ASN][1000 genomes]
rs3771229	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3771232	0.84[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3771233	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3771238	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771239	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771240	0.84[CEU][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3771241	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771243	0.93[ASN][1000 genomes]
rs3771244	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771246	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771247	0.81[CEU][hapmap];0.82[ASN][1000 genomes]
rs3821218	0.87[CEU][hapmap]
rs3821219	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57938873	0.86[ASN][1000 genomes]
rs59129757	0.86[ASN][1000 genomes]
rs62109740	0.86[ASN][1000 genomes]
rs62111433	0.86[ASN][1000 genomes]
rs6748274	0.82[CEU][hapmap]
rs72785203	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72785204	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72785206	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7585590	0.85[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1846803	chr2:20409322-20427189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
2	chr2:20404000-20422400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:20404600-20420800	Enhancers	Stomach Mucosa	stomach
4	chr2:20405800-20416200	Enhancers	Gastric	stomach
5	chr2:20410400-20416200	Genic enhancers	Fetal Intestine Small	intestine
6	chr2:20410600-20417400	Enhancers	Fetal Intestine Large	intestine
7	chr2:20410800-20415200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:20410800-20415400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:20411000-20415400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:20412400-20416000	Flanking Active TSS	HepG2	liver
11	chr2:20412600-20415400	Enhancers	A549	lung
12	chr2:20412600-20420600	Weak transcription	NHLF	lung
13	chr2:20412800-20416400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:20413000-20415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:20413000-20416200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:20413000-20417600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:20413200-20420600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:20413200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:20413400-20419800	Weak transcription	Pancreas	Pancrea
20	chr2:20413400-20420600	Weak transcription	NH-A	brain
21	chr2:20413400-20421000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:20413800-20417600	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:20413800-20418400	Weak transcription	Fetal Lung	lung
24	chr2:20414000-20416600	Enhancers	GM12878-XiMat	blood
25	chr2:20414000-20417400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:20414000-20421400	Weak transcription	Hela-S3	cervix
27	chr2:20414200-20415200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:20414200-20418200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:20414200-20418200	Weak transcription	Spleen	Spleen
30	chr2:20414200-20420200	Strong transcription	Fetal Stomach	stomach
31	chr2:20414200-20420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:20414200-20423000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:20414400-20415800	Flanking Active TSS	Liver	Liver
34	chr2:20414400-20415800	Enhancers	Small Intestine	intestine
35	chr2:20414600-20415400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:20414600-20415400	Enhancers	Fetal Kidney	kidney
37	chr2:20414600-20416200	Weak transcription	Fetal Thymus	thymus
38	chr2:20414600-20417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:20414600-20421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:20414600-20421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:20414800-20415200	Enhancers	Lung	lung
42	chr2:20414800-20415400	Genic enhancers	Colonic Mucosa	Colon
43	chr2:20414800-20416000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:20414800-20416000	Genic enhancers	NHEK	skin
45	chr2:20414800-20416800	Genic enhancers	Esophagus	oesophagus
46	chr2:20414800-20417200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:20414800-20419400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:20414800-20419800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:20414800-20420200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:20414800-20420400	Genic enhancers	Placenta	Placenta

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