Variant report

Variant	rs11594275
Chromosome Location	chr10:50344489-50344490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr10:50343583-50344907	U2OS	brain:	n/a	n/a
2	FOXA1	chr10:50344149-50344492	HepG2	liver:	n/a	n/a
3	KAP1	chr10:50343835-50344917	HEK293	kidney:	n/a	n/a
4	KAP1	chr10:50344460-50345078	K562	blood:	n/a	n/a
5	SETDB1	chr10:50343862-50345048	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:
2	chr10:50343053..50345152-chr10:50372726..50375346,2	K562	blood:

Variant related genes	Relation type
FAM170B-AS1	TF binding region
FAM170B	TF binding region
ENSG00000165633	Chromatin interaction
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11100995	0.96[ASN][1000 genomes]
rs11592541	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11592975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594452	0.96[ASN][1000 genomes]
rs11597087	0.88[EUR][1000 genomes]
rs11597983	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11598768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243520	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782866	1.00[ASN][1000 genomes]
rs1806681	0.86[ASN][1000 genomes]
rs2246796	0.90[ASN][1000 genomes]
rs2377981	0.96[ASN][1000 genomes]
rs2377982	0.96[ASN][1000 genomes]
rs2377983	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377984	0.96[ASN][1000 genomes]
rs3750744	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073200	0.96[ASN][1000 genomes]
rs4073201	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073202	0.96[ASN][1000 genomes]
rs41306832	0.96[ASN][1000 genomes]
rs4272720	0.90[ASN][1000 genomes]
rs4284329	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838455	0.96[ASN][1000 genomes]
rs4838458	0.96[ASN][1000 genomes]
rs4838464	0.86[ASN][1000 genomes]
rs55687538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55783415	0.93[ASN][1000 genomes]
rs55890352	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737365	0.96[ASN][1000 genomes]
rs57286767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59728475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081097	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088006	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7094501	0.96[ASN][1000 genomes]
rs7097375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73302715	0.96[ASN][1000 genomes]
rs73302716	0.96[ASN][1000 genomes]
rs73302780	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73302786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304754	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7895212	0.93[ASN][1000 genomes]
rs7924204	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50342200-50344600	Enhancers	Primary B cells from cord blood	blood
3	chr10:50342200-50346200	Weak transcription	Left Ventricle	heart
4	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
6	chr10:50342400-50345400	Enhancers	Primary B cells from peripheral blood	blood
7	chr10:50342600-50344800	Enhancers	Adipose Nuclei	Adipose
8	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:50343600-50344600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:50343800-50345800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:50343800-50346800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr10:50344000-50346400	Weak transcription	Ovary	ovary
13	chr10:50344000-50347600	Weak transcription	Right Ventricle	heart
14	chr10:50344200-50344600	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:50344200-50345800	Weak transcription	Fetal Stomach	stomach
16	chr10:50344200-50346200	Weak transcription	NH-A	brain
17	chr10:50344200-50346200	Weak transcription	Osteobl	bone
18	chr10:50344200-50346600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:50344200-50346800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr10:50344200-50346800	Weak transcription	Right Atrium	heart
21	chr10:50344200-50347600	Weak transcription	Esophagus	oesophagus
22	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
23	chr10:50344400-50346200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:50344400-50346200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:50344400-50346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:50344400-50347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links