Variant report

Variant	rs1931991
Chromosome Location	chr6:142597368-142597369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1239364	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1239367	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1261625	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1475771	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1572264	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050379	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2782529	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2782534	0.95[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142595000-142597600	Enhancers	Fetal Intestine Small	intestine
2	chr6:142595600-142598400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:142596000-142597400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:142596000-142600800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:142596400-142597400	Enhancers	Placenta	Placenta
6	chr6:142597000-142597400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:142597000-142597400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:142597000-142597800	Enhancers	A549	lung
9	chr6:142597000-142597800	Enhancers	HUVEC	blood vessel
10	chr6:142597000-142600200	Weak transcription	NHEK	skin
11	chr6:142597200-142597400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:142597200-142597600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:142597200-142600000	Weak transcription	HepG2	liver
14	chr6:142597200-142600400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:142597200-142600400	Weak transcription	Fetal Intestine Large	intestine

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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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