Variant report

Variant	rs7251044
Chromosome Location	chr19:42202285-42202286
allele	A/G
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:6)

rs_ID	r²[population]
rs10401378	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10411074	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16975502	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57459898	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7250848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105464	0.83[GIH][hapmap];0.87[AMR][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	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv1061309	chr19:42187716-42228445	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr19:42199400-42203400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42200200-42202400	Enhancers	Pancreas	Pancrea
3	chr19:42200600-42202400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
4	chr19:42200600-42203000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr19:42201400-42202600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr19:42201400-42203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:42201800-42203200	Weak transcription	Colonic Mucosa	Colon
8	chr19:42201800-42203600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr19:42201800-42203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:42202000-42203600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr19:42202000-42205000	Enhancers	Fetal Intestine Small	intestine
12	chr19:42202200-42202400	Enhancers	Small Intestine	intestine
13	chr19:42202200-42202600	Enhancers	Hela-S3	cervix
14	chr19:42202200-42203000	Enhancers	A549	lung
15	chr19:42202200-42203200	Enhancers	Primary hematopoietic stem cells	blood
16	chr19:42202200-42204000	Enhancers	Fetal Intestine Large	intestine
17	chr19:42202200-42204800	Enhancers	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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