Variant report

Variant	rs10804017
Chromosome Location	chr2:188841439-188841440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10497690	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11887607	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12469423	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12477461	0.83[ASN][1000 genomes]
rs13000604	0.87[ASN][1000 genomes]
rs13011622	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13017400	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1516117	0.86[ASN][1000 genomes]
rs17262129	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2350195	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667204	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667205	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188840400-188843400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:188841000-188842800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:188841000-188843000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:188841000-188843200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:188841000-188843400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:188841000-188843400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:188841200-188841600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:188841200-188841600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:188841200-188841600	Enhancers	Aorta	Aorta
10	chr2:188841200-188842000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:188841200-188842200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:188841200-188842200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:188841200-188842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:188841200-188843200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:188841400-188841800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:188841400-188841800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:188841400-188843200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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