Variant report

Variant	rs395134
Chromosome Location	chr4:74788376-74788377
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs164754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs184761	0.83[AMR][1000 genomes]
rs2564595	0.83[AMR][1000 genomes]
rs2573029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34943257	0.83[AMR][1000 genomes]
rs352011	0.83[AMR][1000 genomes]
rs352012	0.83[AMR][1000 genomes]
rs352014	0.83[AMR][1000 genomes]
rs352015	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352016	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352017	0.83[AMR][1000 genomes]
rs352021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352022	0.83[AMR][1000 genomes]
rs352028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447672	0.83[AMR][1000 genomes]
rs648318	0.83[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv966525	chr4:74786364-74795947	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74784000-74788400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:74784200-74788600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:74784600-74788800	Weak transcription	Hela-S3	cervix
4	chr4:74785800-74788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:74785800-74791600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74786000-74788400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:74786000-74788400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:74786000-74788600	Weak transcription	NHEK	skin
9	chr4:74786000-74788800	Weak transcription	HSMM	muscle
10	chr4:74786000-74793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:74788000-74789200	Enhancers	HUVEC	blood vessel
12	chr4:74788000-74789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:74788200-74788400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:74788200-74788600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:74788200-74789000	Enhancers	HSMMtube	muscle
16	chr4:74788200-74789200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:74788200-74789400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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