Variant report

Variant	rs12771933
Chromosome Location	chr10:97800777-97800778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97798897..97807548-chr10:97886918..97893342,17	K562	blood:
2	chr10:97798115..97801536-chr10:97801750..97804794,4	MCF-7	breast:
3	chr10:97798897..97809644-chr10:97883865..97893202,24	K562	blood:
4	chr10:97800624..97806520-chr10:97847575..97852414,10	K562	blood:
5	chr10:97793928..97795682-chr10:97800634..97802290,2	K562	blood:

Variant related genes	Relation type
ENSG00000107443	Chromatin interaction
ENSG00000226688	Chromatin interaction
ENSG00000177853	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10450395	1.00[ASN][1000 genomes]
rs10491070	0.95[YRI][hapmap]
rs10509700	0.95[YRI][hapmap]
rs10509701	1.00[YRI][hapmap]
rs10882723	1.00[YRI][hapmap]
rs11188622	0.95[YRI][hapmap]
rs11188631	1.00[YRI][hapmap]
rs11591374	1.00[ASW][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs11595327	1.00[ASN][1000 genomes]
rs11595809	0.95[YRI][hapmap]
rs11596126	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598546	1.00[YRI][hapmap]
rs11598837	0.94[YRI][hapmap]
rs11599170	0.95[YRI][hapmap]
rs11599662	0.87[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266567	1.00[ASN][1000 genomes]
rs12354644	0.95[YRI][hapmap]
rs12761705	1.00[YRI][hapmap]
rs12768772	0.87[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778345	0.87[ASW][hapmap];0.81[CEU][hapmap];0.94[LWK][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783483	1.00[ASN][1000 genomes]
rs12784299	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17383738	0.87[CEU][hapmap];1.00[CHD][hapmap];0.88[LWK][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs34084924	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34091243	0.81[AFR][1000 genomes]
rs34519673	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34603628	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34660132	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34846723	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35038457	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35894075	1.00[ASN][1000 genomes]
rs57334361	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869172	1.00[ASN][1000 genomes]
rs61869173	1.00[ASN][1000 genomes]
rs66728103	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7081169	0.87[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096164	1.00[ASW][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72821977	1.00[ASN][1000 genomes]
rs72823717	1.00[ASN][1000 genomes]
rs7896077	1.00[YRI][hapmap]
rs7916068	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7918957	1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12771933	ZNF518A	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97797800-97802600	Weak transcription	Small Intestine	intestine
2	chr10:97798800-97802400	Weak transcription	GM12878-XiMat	blood
3	chr10:97799000-97802800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:97799200-97802000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:97799200-97802200	Weak transcription	K562	blood
6	chr10:97799400-97802400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:97799400-97802400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:97799400-97802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:97799400-97802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:97799400-97802400	Weak transcription	HUVEC	blood vessel
11	chr10:97799400-97802600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:97799800-97802800	Weak transcription	Esophagus	oesophagus
13	chr10:97800200-97801000	Enhancers	Fetal Intestine Large	intestine
14	chr10:97800200-97801000	Enhancers	Fetal Intestine Small	intestine

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