Variant report

Variant	rs4500496
Chromosome Location	chr11:66666214-66666215
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	chr11:66665355..66670067-chr11:66670442..66673197,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11828542	1.00[ASN][1000 genomes]
rs17147932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17498954	1.00[CHB][hapmap]
rs2380758	1.00[ASN][1000 genomes]
rs3802743	1.00[ASN][1000 genomes]
rs4397861	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs56803995	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57240313	1.00[ASN][1000 genomes]
rs57410747	1.00[ASN][1000 genomes]
rs57466874	1.00[ASN][1000 genomes]
rs58800112	1.00[ASN][1000 genomes]
rs59538303	1.00[ASN][1000 genomes]
rs59550560	1.00[ASN][1000 genomes]
rs59932755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60651024	1.00[ASN][1000 genomes]
rs61634527	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs735498	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs7952232	0.97[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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66651200-66669800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:66651200-66673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66651400-66678400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:66654600-66673800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:66656200-66668600	Weak transcription	Liver	Liver
6	chr11:66660000-66672200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:66660200-66673600	Weak transcription	HSMMtube	muscle
8	chr11:66660600-66673600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:66660800-66668800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:66660800-66671600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:66660800-66671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:66660800-66672600	Weak transcription	Psoas Muscle	Psoas
13	chr11:66661000-66668400	Weak transcription	NHEK	skin
14	chr11:66661000-66669200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:66661200-66669600	Weak transcription	HMEC	breast
16	chr11:66661800-66670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:66662200-66673600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:66662800-66669200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:66662800-66671600	Weak transcription	Esophagus	oesophagus
20	chr11:66663000-66672200	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:66664200-66670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:66664200-66673800	Weak transcription	Right Ventricle	heart
23	chr11:66665600-66668600	Weak transcription	HepG2	liver
24	chr11:66665800-66666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:66665800-66669400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:66665800-66669400	Weak transcription	A549	lung
27	chr11:66665800-66669400	Weak transcription	Hela-S3	cervix
28	chr11:66665800-66670000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:66665800-66670200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:66665800-66671400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:66665800-66673400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:66666000-66670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:66666200-66666400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:66666200-66667000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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