Variant report

Variant	rs10750179
Chromosome Location	chr11:120864593-120864594
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	chr11:120855990..120858332-chr11:120862136..120864842,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10892648	0.83[MEX][hapmap]
rs11218069	0.83[MEX][hapmap]
rs11218070	0.83[MEX][hapmap]
rs11218071	0.83[MEX][hapmap]
rs11218072	0.83[MEX][hapmap]
rs11218094	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs1621211	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510639	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3781816	0.83[MEX][hapmap]
rs478015	0.93[ASN][1000 genomes]
rs479160	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs4936566	0.83[MEX][hapmap]
rs513548	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[MEX][hapmap];0.83[ASN][1000 genomes]
rs524209	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs536333	0.94[ASN][1000 genomes]
rs536447	0.94[ASN][1000 genomes]
rs557501	0.94[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs560092	0.93[ASN][1000 genomes]
rs565597	0.93[ASN][1000 genomes]
rs595851	0.93[ASN][1000 genomes]
rs596869	0.93[ASN][1000 genomes]
rs598582	0.93[ASN][1000 genomes]
rs601817	0.88[CEU][hapmap];0.86[CHB][hapmap];0.94[MEX][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs607800	0.95[ASN][1000 genomes]
rs608154	0.87[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs611065	0.94[ASN][1000 genomes]
rs646543	0.94[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs652418	0.92[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs670413	0.95[CHB][hapmap];0.93[ASN][1000 genomes]
rs676426	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128009	0.94[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs732480	0.88[MEX][hapmap]
rs7939112	0.94[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7948885	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376837	chr11:120860642-120865340	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10750179	C2CD2L	cis	cerebellum	SCAN
rs10750179	UPK2	cis	cerebellum	SCAN
rs10750179	PVRL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120858000-120868800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:120860400-120868000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:120862600-120864600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:120863600-120864800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:120864000-120864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:120864200-120864600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr11:120864200-120864600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr11:120864200-120865000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:120864400-120865000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:120864400-120865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:120864400-120865200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:120864400-120865400	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:120864400-120865600	Enhancers	Fetal Lung	lung
14	chr11:120864400-120865800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links