Variant report

Variant	rs6048197
Chromosome Location	chr20:22549957-22549958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22537625..22541473-chr20:22546828..22550085,4	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11087387	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11087388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203868	0.84[EUR][1000 genomes]
rs1203873	0.84[EUR][1000 genomes]
rs1203875	0.84[EUR][1000 genomes]
rs1203876	0.84[EUR][1000 genomes]
rs1203877	0.84[EUR][1000 genomes]
rs1203879	0.84[EUR][1000 genomes]
rs1203880	0.84[EUR][1000 genomes]
rs1203881	0.84[EUR][1000 genomes]
rs1203883	0.84[EUR][1000 genomes]
rs1203884	0.84[EUR][1000 genomes]
rs1203886	0.84[EUR][1000 genomes]
rs1203889	0.84[EUR][1000 genomes]
rs1203892	0.85[EUR][1000 genomes]
rs1203894	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1203895	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1203896	0.88[EUR][1000 genomes]
rs1203898	0.85[EUR][1000 genomes]
rs1203905	0.81[EUR][1000 genomes]
rs1203907	0.83[EUR][1000 genomes]
rs1974	0.82[EUR][1000 genomes]
rs2277762	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2277763	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2471	0.84[EUR][1000 genomes]
rs4815127	0.89[EUR][1000 genomes]
rs6036145	0.94[EUR][1000 genomes]
rs6036146	0.89[EUR][1000 genomes]
rs6036152	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6048183	0.89[EUR][1000 genomes]
rs6048184	0.98[EUR][1000 genomes]
rs6048186	0.85[EUR][1000 genomes]
rs6048191	0.89[EUR][1000 genomes]
rs6048192	0.89[EUR][1000 genomes]
rs6048196	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048200	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048202	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048205	0.82[AFR][1000 genomes]
rs6048206	0.84[EUR][1000 genomes]
rs6113722	0.90[EUR][1000 genomes]
rs72470563	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73300990	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300991	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73300993	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs932560	0.85[EUR][1000 genomes]
rs945982	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3381101	chr20:22548552-22551550	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22547000-22550800	Strong transcription	HepG2	liver
2	chr20:22548600-22550400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:22548800-22550000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr20:22548800-22550000	Active TSS	Pancreas	Pancrea
5	chr20:22549000-22550000	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr20:22549000-22551400	Weak transcription	K562	blood
7	chr20:22549400-22550000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr20:22549400-22550000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:22549400-22555200	Enhancers	Liver	Liver
10	chr20:22549600-22550800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:22549600-22553000	Weak transcription	Gastric	stomach
12	chr20:22549800-22550000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr20:22549800-22550000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr20:22549800-22550000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr20:22549800-22550000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr20:22549800-22550000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr20:22549800-22550000	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr20:22549800-22550000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr20:22549800-22550200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr20:22549800-22550400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr20:22549800-22550400	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr20:22549800-22550600	Weak transcription	A549	lung

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