Variant report

Variant	rs4702241
Chromosome Location	chr5:5202232-5202233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10038199	0.86[JPT][hapmap]
rs1560064	0.83[CHD][hapmap];0.84[GIH][hapmap];0.81[ASN][1000 genomes]
rs1808529	0.81[JPT][hapmap]
rs871122	0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:5184600-5204000	Weak transcription	Pancreas	Pancrea
2	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:5193800-5219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:5196000-5209200	Weak transcription	Fetal Kidney	kidney
5	chr5:5199000-5240000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:5199200-5206000	Strong transcription	NH-A	brain
7	chr5:5199800-5228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:5200800-5205400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:5200800-5208600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:5201400-5209200	Weak transcription	Ovary	ovary
12	chr5:5201400-5223000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:5201400-5226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:5201800-5202400	Enhancers	Fetal Muscle Leg	muscle
15	chr5:5202000-5202400	Enhancers	Fetal Muscle Trunk	muscle
16	chr5:5202000-5202600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:5202200-5202400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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