Variant report

Variant	rs7558385
Chromosome Location	chr2:20481605-20481606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20469016..20471987-chr2:20480975..20483555,2	MCF-7	breast:
2	chr2:20475238..20477975-chr2:20479251..20482026,2	K562	blood:
3	chr2:20481278..20483845-chr2:20486511..20488232,4	MCF-7	breast:
4	chr2:20473741..20476352-chr2:20478752..20483600,5	MCF-7	breast:
5	chr2:20478789..20484582-chr2:20484927..20489294,7	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10175853	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10187080	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10192042	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206974	0.93[ASN][1000 genomes]
rs1043400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10460445	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10460449	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10460450	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10460451	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10495704	0.95[CEU][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap]
rs10856797	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1106111	0.83[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap]
rs11096654	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11096655	0.80[JPT][hapmap]
rs11096659	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11888357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11896241	0.81[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898408	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11900127	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902769	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11903745	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12373772	0.84[CEU][hapmap]
rs12373819	0.84[CEU][hapmap]
rs12464428	0.83[CEU][hapmap]
rs12465832	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12472685	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12473500	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12474897	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12478265	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13393733	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17612703	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002090	0.83[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap]
rs2072464	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2080190	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2110410	1.00[ASW][hapmap];0.91[CEU][hapmap];0.95[MEX][hapmap];0.81[EUR][1000 genomes]
rs2348703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2820	1.00[ASW][hapmap];0.87[CEU][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34678899	0.90[ASN][1000 genomes]
rs3732164	0.80[CEU][hapmap]
rs3771236	0.82[CEU][hapmap]
rs3771238	0.82[CEU][hapmap]
rs3771239	0.82[CEU][hapmap]
rs3796066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3821218	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123442	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6748274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72785217	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72785218	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72785278	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72785282	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72785295	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72785297	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72785298	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72785300	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72785301	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787406	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787409	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787411	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72787415	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787433	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787499	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72787500	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72787501	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72788905	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72788906	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs741188	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7558833	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7563245	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs7579571	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7582642	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7585590	0.84[MEX][hapmap]
rs7595266	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9306890	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9306891	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[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	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
3	chr2:20454200-20482800	Weak transcription	Pancreas	Pancrea
4	chr2:20454200-20488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:20454200-20490800	Weak transcription	Right Ventricle	heart
6	chr2:20454200-20491000	Weak transcription	Gastric	stomach
7	chr2:20454200-20491000	Weak transcription	Spleen	Spleen
8	chr2:20454200-20499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:20455400-20482600	Weak transcription	Ovary	ovary
10	chr2:20455800-20485000	Weak transcription	Colonic Mucosa	Colon
11	chr2:20456400-20482600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:20456400-20488800	Weak transcription	Small Intestine	intestine
13	chr2:20458000-20491000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:20460800-20485800	Weak transcription	Fetal Brain Male	brain
16	chr2:20461000-20481800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:20462200-20482400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:20462600-20482200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:20465600-20500400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
21	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:20467600-20482400	Weak transcription	Esophagus	oesophagus
24	chr2:20467600-20490600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:20467800-20482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:20467800-20491400	Weak transcription	Lung	lung
27	chr2:20468000-20481800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:20469600-20486400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:20470400-20482000	Weak transcription	NHLF	lung
30	chr2:20471800-20522600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:20471800-20533800	Strong transcription	Dnd41	blood
32	chr2:20472000-20482600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:20472000-20482600	Weak transcription	Fetal Stomach	stomach
34	chr2:20472000-20491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:20472200-20481800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:20472200-20482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:20472800-20481800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:20474800-20487000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:20475000-20482800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:20475400-20486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:20475400-20522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:20476200-20514400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:20476400-20482800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:20476400-20488000	Strong transcription	A549	lung
46	chr2:20476400-20488000	Strong transcription	Hela-S3	cervix
47	chr2:20476400-20491000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:20476400-20492800	Strong transcription	GM12878-XiMat	blood
49	chr2:20476400-20500000	Strong transcription	Placenta	Placenta
50	chr2:20476400-20521000	Strong transcription	Fetal Intestine Large	intestine

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