Variant report

Variant	rs953248
Chromosome Location	chr12:10769931-10769932
allele	C/T
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	CEBPB	chr12:10769814-10770066	K562	blood:	n/a	chr12:10769978-10769991

Variant related genes	Relation type
MAGOHB	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1026443	0.81[AMR][1000 genomes]
rs1026445	0.81[AMR][1000 genomes]
rs1026446	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs1052871	0.92[EUR][1000 genomes]
rs10772332	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10772333	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10772335	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10845182	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2011295	0.82[GIH][hapmap];0.81[AMR][1000 genomes]
rs2125088	0.91[MEX][hapmap]
rs2125089	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs2125090	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2198965	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219383	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2243823	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2417908	0.93[GIH][hapmap];0.90[MEX][hapmap]
rs2682484	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3463	0.93[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3947920	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4237930	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4763208	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.87[EUR][1000 genomes]
rs4763209	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4763210	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4763211	0.93[CEU][hapmap];0.96[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4763562	0.82[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs6488312	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488313	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308433	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7311796	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs7316237	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7965803	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976279	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs897881	1.00[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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs953248	KLRC3	cis	cerebellum	SCAN
rs953248	HEBP1	cis	cerebellum	SCAN
rs953248	KLRC2	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10766600-10789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10766600-10794400	Weak transcription	Gastric	stomach
4	chr12:10766800-10770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:10766800-10771400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
7	chr12:10767000-10770400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:10767000-10770600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:10767000-10770600	Weak transcription	NHLF	lung
10	chr12:10767000-10772400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:10767000-10772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
13	chr12:10767200-10770200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:10767200-10770200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:10767200-10770200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:10767200-10770200	Weak transcription	HMEC	breast
17	chr12:10767200-10770200	Weak transcription	HSMMtube	muscle
18	chr12:10767200-10770400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:10767200-10770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:10767200-10770400	Weak transcription	A549	lung
21	chr12:10767200-10770400	Weak transcription	HUVEC	blood vessel
22	chr12:10767200-10770400	Weak transcription	K562	blood
23	chr12:10767200-10770400	Weak transcription	Osteobl	bone
24	chr12:10767200-10770600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:10767200-10770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:10767200-10770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:10767200-10770600	Weak transcription	NH-A	brain
28	chr12:10767200-10770800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:10767200-10771200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:10767200-10772000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:10767200-10772200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:10767200-10775000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:10767400-10770000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:10767400-10770000	Weak transcription	HSMM	muscle
37	chr12:10767400-10772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:10767600-10776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:10769000-10770200	Weak transcription	NHEK	skin
40	chr12:10769600-10772400	Enhancers	NHDF-Ad	bronchial

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