Variant report

Variant	rs10239937
Chromosome Location	chr7:50603911-50603912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50601758..50604303-chr7:50604942..50607334,2	K562	blood:
2	chr7:50598241..50600922-chr7:50601073..50603965,2	K562	blood:
3	chr7:50601800..50604303-chr7:50605834..50607689,2	K562	blood:

Variant related genes	Relation type
ENSG00000226122	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10244632	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10249982	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10274275	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12535064	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12538830	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1451366	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1451368	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1901311	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1901312	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1982406	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2100280	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2122818	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2122821	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2167366	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2876826	0.84[EUR][1000 genomes]
rs4585697	0.94[ASN][1000 genomes]
rs4947588	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4947589	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56670620	0.94[ASN][1000 genomes]
rs58129743	0.94[ASN][1000 genomes]
rs6592963	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6592973	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67275148	0.94[ASN][1000 genomes]
rs6952023	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963534	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967361	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6970468	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974583	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73121277	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7777600	0.84[EUR][1000 genomes]
rs7797142	0.81[EUR][1000 genomes]
rs7807564	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9918591	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9918702	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv429750	chr7:50603534-50622712	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:50595200-50604600	Genic enhancers	Fetal Intestine Small	intestine
3	chr7:50600200-50612600	Weak transcription	Small Intestine	intestine
4	chr7:50600600-50619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:50602400-50604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:50602400-50604200	Enhancers	NHDF-Ad	bronchial
8	chr7:50602600-50618200	Weak transcription	Pancreas	Pancrea
9	chr7:50602800-50604200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr7:50602800-50604400	Enhancers	Hela-S3	cervix
11	chr7:50602800-50604400	Weak transcription	HepG2	liver
12	chr7:50602800-50606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:50602800-50609600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:50602800-50610200	Weak transcription	Colonic Mucosa	Colon
15	chr7:50602800-50613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:50603200-50604000	Genic enhancers	Fetal Intestine Large	intestine
17	chr7:50603200-50606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:50603400-50604200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:50603600-50604600	Strong transcription	Liver	Liver
20	chr7:50603600-50613000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:50603800-50606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:50603800-50606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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