Variant report

Variant	rs2003375
Chromosome Location	chr11:57824894-57824895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1013447	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs10750876	0.88[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs10750878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10750879	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10750880	0.94[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10750881	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10750882	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10750883	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs10792122	0.89[AFR][1000 genomes]
rs10792126	0.88[ASN][1000 genomes]
rs10792128	0.87[ASN][1000 genomes]
rs10792129	0.88[ASN][1000 genomes]
rs10792130	0.91[JPT][hapmap]
rs10792131	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10792132	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10792133	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10792135	0.94[CEU][hapmap];0.86[CHB][hapmap]
rs10896690	0.85[ASN][1000 genomes]
rs10896692	0.87[ASN][1000 genomes]
rs10896693	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229221	0.86[ASN][1000 genomes]
rs11229236	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs11229237	0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs11229247	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229250	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1123196	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs1123306	0.82[EUR][1000 genomes]
rs1123307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823591	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12226617	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12363350	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1447169	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1545459	0.82[EUR][1000 genomes]
rs1562863	0.82[EUR][1000 genomes]
rs1868043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100110	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs2167357	0.82[EUR][1000 genomes]
rs2167358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218598	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2441950	0.82[JPT][hapmap]
rs2441958	0.81[ASN][1000 genomes]
rs2441979	0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2443445	0.82[EUR][1000 genomes]
rs2443450	0.82[EUR][1000 genomes]
rs2513726	0.91[JPT][hapmap]
rs2513727	0.91[JPT][hapmap]
rs2513729	0.87[JPT][hapmap]
rs2513730	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2514181	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs2514187	0.91[JPT][hapmap]
rs2514202	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2839749	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2866830	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs3974323	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4939175	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4939176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939182	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs59594813	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591455	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7109726	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7110748	0.94[CEU][hapmap];0.86[CHB][hapmap]
rs7113065	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7117613	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7117711	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7118536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7119421	0.82[EUR][1000 genomes]
rs7126858	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952724	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs896300	0.82[CEU][hapmap]
rs921133	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs921134	0.91[JPT][hapmap]
rs921135	0.91[JPT][hapmap]
rs971066	0.82[EUR][1000 genomes]
rs976429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976430	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57813600-57825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:57821600-57826000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:57821800-57825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:57823600-57828400	Enhancers	HepG2	liver
5	chr11:57824600-57826400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:57824600-57830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:57824600-57830600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:57824800-57825800	Enhancers	HSMM	muscle
9	chr11:57824800-57826000	Enhancers	HSMMtube	muscle
10	chr11:57824800-57826800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:57824800-57830000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:57824800-57830200	Enhancers	NHLF	lung

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