Variant report

Variant	rs4944625
Chromosome Location	chr11:86461787-86461788
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11234786	0.85[EUR][1000 genomes]
rs17149373	0.92[CEU][hapmap]
rs34870456	0.83[EUR][1000 genomes]
rs4245425	0.91[EUR][1000 genomes]
rs4363628	1.00[CEU][hapmap]
rs4943956	0.91[EUR][1000 genomes]
rs4944626	0.91[EUR][1000 genomes]
rs4944627	0.91[EUR][1000 genomes]
rs4944628	0.91[EUR][1000 genomes]
rs7102870	1.00[CEU][hapmap]
rs7110253	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7119003	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7929251	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv468775	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv555705	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86454000-86474000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:86455000-86462400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:86455200-86464600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:86456200-86462400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:86456600-86478000	Weak transcription	Aorta	Aorta
6	chr11:86460800-86466800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:86461200-86461800	Enhancers	Fetal Kidney	kidney
8	chr11:86461400-86463600	Weak transcription	Ovary	ovary
9	chr11:86461400-86464400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:86461400-86464400	Weak transcription	Fetal Lung	lung
11	chr11:86461400-86464400	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:86461400-86465400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:86461400-86465800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86461400-86479600	Weak transcription	Psoas Muscle	Psoas
15	chr11:86461600-86464400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:86461600-86464400	Weak transcription	Fetal Stomach	stomach
17	chr11:86461600-86464400	Weak transcription	NHDF-Ad	bronchial
18	chr11:86461600-86464600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:86461600-86471600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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