Variant report

Variant	rs497763
Chromosome Location	chr11:94225920-94225921
allele	A/G
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	POLR2A	chr11:94225808-94226148	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr11:94225753-94227860	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr11:94225680-94228468	SK-N-SH	brain:	n/a	chr11:94226554-94226563
4	JUN	chr11:94225876-94226334	K562	blood:	n/a	n/a
5	MXI1	chr11:94225762-94227584	Hela-S3	cervix:	n/a	chr11:94226554-94226563
6	FOS	chr11:94225772-94225934	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr11:94225842-94226079	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93473689..93475609-chr11:94224502..94227416,2	K562	blood:
2	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
3	chr11:94223520..94226395-chr11:94275795..94278274,2	K562	blood:
4	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:

Variant related genes	Relation type
ANKRD49	TF binding region
ENSG00000166012	Chromatin interaction
ENSG00000196371	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000110218	Chromatin interaction
ENSG00000134627	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1014666	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10831225	0.84[CEU][hapmap]
rs11020799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11020803	0.84[CEU][hapmap]
rs12224966	0.84[CEU][hapmap]
rs1270146	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508460	0.80[AMR][1000 genomes]
rs2508784	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2509321	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2509324	0.84[AMR][1000 genomes]
rs2509943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3017077	0.84[CEU][hapmap]
rs4342993	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4593974	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs472344	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473297	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475531	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476137	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs482629	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs486556	0.83[EUR][1000 genomes]
rs489200	0.82[EUR][1000 genomes]
rs492001	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs493982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496190	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs496797	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs500558	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs524350	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs525057	0.88[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs525921	0.88[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs536768	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs540199	0.84[CEU][hapmap]
rs544337	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs547207	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs550255	0.84[CEU][hapmap]
rs553634	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs557148	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs569143	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs571044	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs582049	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs582077	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs588701	0.84[CEU][hapmap]
rs610899	0.96[CEU][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs612075	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs612632	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs614424	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs621562	0.86[EUR][1000 genomes]
rs622961	0.88[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs625245	0.84[CEU][hapmap]
rs628079	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs628164	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs628728	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs629119	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs629156	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs642744	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs647249	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6483341	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs654718	0.84[CEU][hapmap]
rs659349	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs662572	0.84[EUR][1000 genomes]
rs682213	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs684507	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs693815	0.88[CEU][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs695093	0.88[CEU][hapmap];0.88[MEX][hapmap];0.80[EUR][1000 genomes]
rs948575	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv1794580	chr11:94224060-94227993	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv1796910	chr11:94224060-94227993	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs497763	MRE11A	cis	Artery Tibial	GTEx
rs497763	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs497763	RP11-685N10.1	cis	Artery Aorta	GTEx
rs497763	MRE11A	cis	Heart Left Ventricle	GTEx
rs497763	MRE11A	cis	Artery Aorta	GTEx
rs497763	MRE11A	cis	Thyroid	GTEx
rs497763	RP11-685N10.1	cis	Thyroid	GTEx
rs497763	MRE11A	cis	Nerve Tibial	GTEx
rs497763	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs497763	ABLIM1	trans	lymphoblastoid	seeQTL
rs497763	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs497763	HEPHL1	cis	cerebellum	SCAN
rs497763	RP11-685N10.1	cis	Artery Tibial	GTEx
rs497763	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs497763	MRE11A	cis	lung	GTEx
rs497763	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs497763	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs497763	MRE11A	cis	Esophagus Mucosa	GTEx
rs497763	MRE11A	cis	Stomach	GTEx
rs497763	RP11-685N10.1	cis	Stomach	GTEx
rs497763	RP11-685N10.1	cis	lung	GTEx
rs497763	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs497763	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs497763	MRE11A	cis	Adipose Subcutaneous	GTEx
rs497763	MRE11A	cis	cerebellum	SCAN
rs497763	GPR83	cis	parietal	SCAN
rs497763	MRE11A	cis	Esophagus Muscularis	GTEx
rs497763	MRE11A	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
3	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
4	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
5	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
6	chr11:94206600-94226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:94206800-94226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:94210200-94226200	Weak transcription	Aorta	Aorta
9	chr11:94211200-94226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:94214200-94226000	Weak transcription	HSMMtube	muscle
11	chr11:94216800-94226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:94217000-94226400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:94217000-94226400	Weak transcription	Gastric	stomach
14	chr11:94217000-94226600	Weak transcription	Spleen	Spleen
15	chr11:94222600-94226200	Weak transcription	Right Ventricle	heart
16	chr11:94223200-94226000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:94223600-94226000	Weak transcription	Ovary	ovary
18	chr11:94223600-94226200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:94223600-94226400	Weak transcription	Left Ventricle	heart
20	chr11:94223600-94226400	Weak transcription	Lung	lung
21	chr11:94223800-94226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:94223800-94226000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:94223800-94226200	Weak transcription	Placenta	Placenta
24	chr11:94223800-94226400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:94224400-94226000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:94224400-94226000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:94224400-94226200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:94225000-94226000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:94225000-94226000	Enhancers	HUVEC	blood vessel
30	chr11:94225000-94226200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:94225000-94226200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:94225000-94226200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr11:94225000-94226200	Enhancers	Fetal Brain Male	brain
34	chr11:94225000-94226200	Flanking Active TSS	Dnd41	blood
35	chr11:94225200-94226000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr11:94225200-94226000	Enhancers	Thymus	Thymus
37	chr11:94225200-94226200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr11:94225200-94226200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:94225200-94226200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:94225200-94226200	Enhancers	Psoas Muscle	Psoas
41	chr11:94225200-94227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:94225400-94226000	Enhancers	Primary B cells from cord blood	blood
43	chr11:94225400-94226000	Enhancers	Fetal Intestine Small	intestine
44	chr11:94225400-94226000	Enhancers	Fetal Lung	lung
45	chr11:94225400-94227600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:94225400-94228200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:94225600-94226000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:94225600-94226000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:94225600-94226000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr11:94225600-94226000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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