Variant report

Variant	rs62510180
Chromosome Location	chr8:61324842-61324843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50746690..50747259-chr8:61324404..61324904,2	Hela-S3	cervix:
2	chr8:61324832..61325643-chr8:61526141..61526863,2	MCF-7	breast:
3	chr8:61309337..61310142-chr8:61324728..61325721,2	K562	blood:

Variant related genes	Relation type
ENSG00000225830	Chromatin interaction
ENSG00000258838	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088058	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10101758	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10107773	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10108568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111967	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13254748	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13271668	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272533	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13277273	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13278073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13438846	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926232	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1893278	0.81[EUR][1000 genomes]
rs1941464	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2068589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28484871	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28576477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28897378	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35907640	0.89[ASN][1000 genomes]
rs3886101	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56073139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471876	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6994818	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002467	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7820186	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7821955	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7841536	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr8:61309000-61330000	Weak transcription	Right Atrium	heart
2	chr8:61320000-61325400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:61320000-61325400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:61320200-61325400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:61320600-61325200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:61321200-61325000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:61321400-61325400	Weak transcription	Gastric	stomach
8	chr8:61322000-61325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:61324000-61325200	Weak transcription	Pancreas	Pancrea
10	chr8:61324000-61327000	Enhancers	Fetal Heart	heart
11	chr8:61324400-61325200	Enhancers	Colon Smooth Muscle	Colon
12	chr8:61324400-61325200	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:61324600-61325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:61324600-61325200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:61324600-61325200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:61324600-61325200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr8:61324600-61325400	Weak transcription	Esophagus	oesophagus
18	chr8:61324800-61325000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:61324800-61325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:61324800-61325400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr8:61324800-61326000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:61324800-61327000	Enhancers	Placenta	Placenta

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