Variant report

Variant	rs4763211
Chromosome Location	chr12:10768186-10768187
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	YY1	chr12:10768075-10768450	H1-hESC	embryonic stem cell:	n/a	chr12:10768291-10768300 chr12:10768255-10768267 chr12:10768256-10768278 chr12:10768255-10768271
2	YY1	chr12:10768040-10768491	H1-hESC	embryonic stem cell:	n/a	chr12:10768291-10768300 chr12:10768255-10768267 chr12:10768256-10768278 chr12:10768255-10768271
3	CTCF	chr12:10768160-10768310	GM12865	blood:	n/a	n/a
4	CTCF	chr12:10768140-10768290	BE2_C	brain:	n/a	n/a
5	CTCF	chr12:10768160-10768310	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr12:10768140-10768290	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr12:10768180-10768330	MCF-7	breast:	n/a	n/a
8	HCFC1	chr12:10768186-10768375	K562	blood:	n/a	n/a
9	CTCF	chr12:10768180-10768330	GM12874	blood:	n/a	n/a
10	CTCF	chr12:10768180-10768330	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr12:10768180-10768330	HPAF	blood vessel:	n/a	n/a
12	CHD2	chr12:10768164-10768311	K562	blood:	n/a	n/a
13	CTCF	chr12:10768180-10768330	NHEK	skin:	n/a	n/a
14	ZNF143	chr12:10768130-10768419	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10766141..10768697-chr12:10873862..10876046,3	MCF-7	breast:
2	chr12:10765432..10767143-chr12:10767559..10769476,2	MCF-7	breast:
3	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
4	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:
5	chr12:10766930..10769742-chr12:10774668..10777182,2	MCF-7	breast:

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000111196	Chromatin interaction
ENSG00000060138	Chromatin interaction

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	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs1052871	0.91[EUR][1000 genomes]
rs10772332	0.93[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10772333	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10772335	0.93[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10845182	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16922916	0.82[CEU][hapmap]
rs2011295	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs2125088	0.83[CEU][hapmap];0.91[MEX][hapmap]
rs2125089	0.93[CEU][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs2125090	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2198965	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2219383	0.94[ASW][hapmap];0.85[CEU][hapmap];0.96[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243823	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs2417908	1.00[CHD][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap]
rs2682484	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs3463	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3947920	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4237930	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs4763208	0.93[CEU][hapmap];0.90[MEX][hapmap];0.86[EUR][1000 genomes]
rs4763209	0.93[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4763210	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4763562	0.88[CEU][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs6488312	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6488313	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7308433	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7311796	1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs7316237	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965803	0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7976279	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs953248	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]

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
rs4763211	HEBP1	cis	cerebellum	SCAN
rs4763211	KLRC2	cis	cerebellum	SCAN
rs4763211	KLRC3	cis	cerebellum	SCAN

Chromatin state (count:42 , 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	chr12:10766800-10769600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:10766800-10770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:10766800-10771400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
8	chr12:10767000-10770400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:10767000-10770600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:10767000-10770600	Weak transcription	NHLF	lung
11	chr12:10767000-10772400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:10767000-10772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
14	chr12:10767200-10769200	Weak transcription	Liver	Liver
15	chr12:10767200-10769600	Weak transcription	NHDF-Ad	bronchial
16	chr12:10767200-10770200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:10767200-10770200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:10767200-10770200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:10767200-10770200	Weak transcription	HMEC	breast
20	chr12:10767200-10770200	Weak transcription	HSMMtube	muscle
21	chr12:10767200-10770400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:10767200-10770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:10767200-10770400	Weak transcription	A549	lung
24	chr12:10767200-10770400	Weak transcription	HUVEC	blood vessel
25	chr12:10767200-10770400	Weak transcription	K562	blood
26	chr12:10767200-10770400	Weak transcription	Osteobl	bone
27	chr12:10767200-10770600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:10767200-10770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:10767200-10770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:10767200-10770600	Weak transcription	NH-A	brain
31	chr12:10767200-10770800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:10767200-10771200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:10767200-10772000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:10767200-10772200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:10767200-10775000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:10767400-10769000	Enhancers	NHEK	skin
39	chr12:10767400-10770000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:10767400-10770000	Weak transcription	HSMM	muscle
41	chr12:10767400-10772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:10767600-10776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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