Variant report

Variant	rs4253082
Chromosome Location	chr10:50717586-50717587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50717195..50718876-chr10:50739121..50741065,2	K562	blood:
2	chr10:50715569..50718101-chr10:50726217..50728314,2	K562	blood:
3	chr10:50715711..50718094-chr10:50726640..50728977,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1012553	0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1012554	0.98[ASN][1000 genomes]
rs10776576	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10857503	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10857505	0.80[ASN][1000 genomes]
rs11101137	0.86[CHB][hapmap]
rs11101140	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101148	0.91[ASN][1000 genomes]
rs11101153	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11101154	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11527799	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11527805	0.84[CHB][hapmap]
rs11594945	0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11815415	0.91[ASN][1000 genomes]
rs12217467	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12218455	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12218602	0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12220085	0.84[CHB][hapmap]
rs12220258	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12413113	0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17177703	0.80[ASN][1000 genomes]
rs17177717	0.81[CHB][hapmap]
rs1880679	0.80[ASN][1000 genomes]
rs1880680	0.80[ASN][1000 genomes]
rs1917799	0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1924488	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2222638	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2228524	0.98[ASN][1000 genomes]
rs2228528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281794	0.85[CHB][hapmap]
rs2889771	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3750745	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3750748	0.85[CHB][hapmap]
rs3763728	0.88[ASN][1000 genomes]
rs3793786	0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3793788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4012459	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4240507	0.94[ASN][1000 genomes]
rs4240508	0.97[ASN][1000 genomes]
rs4253009	0.92[ASN][1000 genomes]
rs4253013	0.86[CHB][hapmap]
rs4253024	0.98[ASN][1000 genomes]
rs4253043	0.86[CHB][hapmap]
rs4253060	0.86[CHB][hapmap]
rs4253095	0.86[CHB][hapmap]
rs4253226	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56002988	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57761316	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59219652	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61288726	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6537537	0.91[ASN][1000 genomes]
rs7080607	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7082895	0.92[ASN][1000 genomes]
rs7087700	0.97[ASN][1000 genomes]
rs7096755	0.87[ASN][1000 genomes]
rs7901433	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' 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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50685000-50723400	Weak transcription	NHLF	lung
2	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
4	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:50690200-50718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
8	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
9	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
10	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
11	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:50691000-50724400	Weak transcription	Lung	lung
13	chr10:50691000-50728200	Weak transcription	Gastric	stomach
14	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
15	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
16	chr10:50693400-50718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:50693400-50719400	Weak transcription	Fetal Intestine Small	intestine
18	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
19	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
21	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
22	chr10:50706000-50723400	Weak transcription	Aorta	Aorta
23	chr10:50706000-50723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:50706400-50726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:50707000-50723600	Weak transcription	Brain Germinal Matrix	brain
26	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
27	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:50708200-50723400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:50708200-50723400	Weak transcription	K562	blood
30	chr10:50708800-50718000	Weak transcription	Ovary	ovary
31	chr10:50708800-50723200	Weak transcription	HSMM	muscle
32	chr10:50708800-50723400	Weak transcription	Adipose Nuclei	Adipose
33	chr10:50708800-50723400	Weak transcription	Pancreas	Pancrea
34	chr10:50711400-50723000	Weak transcription	Liver	Liver
35	chr10:50711600-50723200	Weak transcription	Hela-S3	cervix
36	chr10:50711600-50723400	Weak transcription	Fetal Intestine Large	intestine
37	chr10:50711600-50727800	Weak transcription	Right Atrium	heart
38	chr10:50711800-50720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:50713200-50720200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr10:50713600-50718600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:50713800-50723400	Weak transcription	NH-A	brain
42	chr10:50714200-50718400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr10:50714200-50718400	Weak transcription	Osteobl	bone
44	chr10:50714200-50718600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:50714200-50723200	Weak transcription	HMEC	breast
46	chr10:50714200-50723600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:50714400-50718000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:50714400-50718400	Weak transcription	NHEK	skin
49	chr10:50715000-50717800	Bivalent Enhancer	Primary T cells from cord blood	blood
50	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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