Variant report

Variant	rs6814802
Chromosome Location	chr4:74529953-74529954
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11721801	1.00[ASN][1000 genomes]
rs1247670	0.81[JPT][hapmap]
rs1247671	0.81[JPT][hapmap]
rs12498420	0.97[ASN][1000 genomes]
rs12504797	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12508661	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs13103576	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1528916	0.88[JPT][hapmap]
rs1528918	0.81[JPT][hapmap]
rs17192413	0.82[JPT][hapmap]
rs34945352	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67902316	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6855668	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[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	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	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74521200-74530000	Weak transcription	Thymus	Thymus
2	chr4:74524600-74534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:74526200-74531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:74526200-74531000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:74526800-74531000	Enhancers	NHDF-Ad	bronchial
6	chr4:74528200-74530400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:74528200-74534400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:74528600-74530200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:74528600-74530400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:74528800-74531200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:74529000-74530200	Weak transcription	Osteobl	bone
12	chr4:74529000-74539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:74529200-74530200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:74529200-74530200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:74529200-74530200	Weak transcription	Fetal Thymus	thymus
16	chr4:74529200-74534600	Weak transcription	A549	lung
17	chr4:74529200-74534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:74529400-74531000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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