Variant report

Variant	rs2122819
Chromosome Location	chr7:50581301-50581302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50569843..50571376-chr7:50579895..50581810,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11763051	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11771860	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17133881	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2122820	0.86[EUR][1000 genomes]
rs2167363	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2329364	0.86[EUR][1000 genomes]
rs4245549	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4455783	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947621	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947625	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947631	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58537381	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59221245	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61042486	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73342836	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73342839	0.84[ASN][1000 genomes]
rs73342848	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:50569000-50592800	Weak transcription	HepG2	liver
4	chr7:50571000-50582400	Weak transcription	Right Atrium	heart
5	chr7:50577000-50581600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:50577000-50583400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:50580200-50581800	Enhancers	Pancreas	Pancrea
8	chr7:50580600-50581600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:50580600-50581800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:50580800-50581800	Enhancers	Esophagus	oesophagus
11	chr7:50581000-50581400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:50581000-50581400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:50581000-50581400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:50581000-50581400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:50581000-50581400	Enhancers	Fetal Muscle Trunk	muscle
16	chr7:50581000-50581400	Flanking Active TSS	K562	blood
17	chr7:50581000-50581400	Enhancers	NHEK	skin
18	chr7:50581000-50581600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:50581000-50581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:50581000-50581800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:50581200-50581600	Enhancers	HMEC	breast
22	chr7:50581200-50582000	Genic enhancers	Fetal Intestine Large	intestine
23	chr7:50581200-50582000	Genic enhancers	Fetal Intestine Small	intestine

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