Variant report

Variant	rs4591851
Chromosome Location	chr6:38400992-38400993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11970228	0.83[ASN][1000 genomes]
rs2143372	0.90[EUR][1000 genomes]
rs2745379	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2745380	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2745381	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2745382	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2745384	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2745385	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2814888	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2814895	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2814896	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2814898	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2814899	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4131034	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4591850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4598072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711547	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714160	0.89[ASN][1000 genomes]
rs62397049	0.87[ASN][1000 genomes]
rs62397050	0.90[ASN][1000 genomes]
rs6911352	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7754340	0.83[EUR][1000 genomes]
rs9349081	0.93[ASN][1000 genomes]
rs9349082	0.89[ASN][1000 genomes]
rs9357273	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369058	0.90[EUR][1000 genomes]
rs9380748	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9394498	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv602958	chr6:38362024-38446634	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1030889	chr6:38374812-38450432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv13423	chr6:38391599-38404785	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2421878	chr6:38391806-38402621	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv441993	chr6:38391806-38402621	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv514356	chr6:38391934-38402598	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv523561	chr6:38395874-38406736	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38376800-38411400	Weak transcription	Primary T cells from cord blood	blood
2	chr6:38396200-38401200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:38396200-38404400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:38396400-38401600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:38396400-38449800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:38396600-38401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:38396800-38404600	Weak transcription	NHDF-Ad	bronchial
8	chr6:38397800-38401600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:38398800-38413800	Weak transcription	Aorta	Aorta
10	chr6:38399600-38402400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:38400000-38401600	Enhancers	HMEC	breast
12	chr6:38400200-38401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:38400200-38401600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:38400400-38401000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:38400400-38404400	Weak transcription	NH-A	brain
16	chr6:38400400-38410800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:38400600-38401000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:38400600-38401000	Enhancers	NHEK	skin
19	chr6:38400600-38402600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:38400800-38404400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:38400800-38404400	Weak transcription	GM12878-XiMat	blood

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