Variant report

Variant	rs473297
Chromosome Location	chr11:94228411-94228412
allele	G/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	MXI1	chr11:94225680-94228468	SK-N-SH	brain:	n/a	chr11:94226554-94226563
2	POLR2A	chr11:94226428-94228927	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:94228358-94228499	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:
2	chr11:94225979..94229384-chr11:94230397..94235421,9	K562	blood:
3	chr11:94180184..94182302-chr11:94227182..94229296,2	K562	blood:
4	chr11:94226137..94228706-chr11:94300541..94302920,2	K562	blood:
5	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
6	chr11:93914625..93916953-chr11:94227203..94228744,2	MCF-7	breast:

Variant related genes	Relation type
MRE11A	TF binding region
ANKRD49	TF binding region
ENSG00000110218	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction
ENSG00000196371	Chromatin interaction
ENSG00000134627	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 26 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1014666	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10831225	0.81[CEU][hapmap]
rs11020799	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11020803	0.81[CEU][hapmap]
rs12224966	0.81[CEU][hapmap]
rs1270146	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508460	0.83[EUR][1000 genomes]
rs2508784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2509321	0.81[EUR][1000 genomes]
rs2509943	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3017077	0.81[CEU][hapmap]
rs4342993	0.80[EUR][1000 genomes]
rs4593974	0.81[EUR][1000 genomes]
rs472344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475531	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs476137	0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs482629	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs486556	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs489200	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs492001	0.82[EUR][1000 genomes]
rs493982	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs496190	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs496797	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497763	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]
rs500558	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs518276	0.81[CEU][hapmap]
rs524350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525057	0.84[CEU][hapmap];0.83[MEX][hapmap]
rs525921	0.84[CEU][hapmap];0.83[MEX][hapmap];0.80[EUR][1000 genomes]
rs533984	0.81[CEU][hapmap]
rs536768	0.83[EUR][1000 genomes]
rs540199	0.81[CEU][hapmap]
rs544337	0.86[EUR][1000 genomes]
rs547207	0.82[EUR][1000 genomes]
rs550255	0.81[CEU][hapmap]
rs553634	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs557148	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs569143	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs571044	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs582049	0.81[EUR][1000 genomes]
rs582077	0.82[EUR][1000 genomes]
rs588701	0.81[CEU][hapmap]
rs610899	0.92[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612075	0.83[EUR][1000 genomes]
rs612632	0.83[EUR][1000 genomes]
rs614424	0.83[EUR][1000 genomes]
rs621562	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs622961	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs625245	0.81[CEU][hapmap]
rs628079	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs628728	0.82[EUR][1000 genomes]
rs629119	0.82[EUR][1000 genomes]
rs629156	0.81[EUR][1000 genomes]
rs642744	0.82[EUR][1000 genomes]
rs6483341	0.80[ASW][hapmap];1.00[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs654718	0.81[CEU][hapmap]
rs659349	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs662572	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs682213	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs684507	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693815	0.84[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs695093	0.84[CEU][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs948575	0.81[CEU][hapmap]

mRNA abundance (count:26)

SNP	Gene	Cis/trans	Tissue	Source
rs473297	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs473297	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs473297	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs473297	GPR83	cis	parietal	SCAN
rs473297	RP11-685N10.1	cis	Thyroid	GTEx
rs473297	MRE11A	cis	Esophagus Muscularis	GTEx
rs473297	MRE11A	cis	multi-tissue	Pritchard
rs473297	RP11-685N10.1	cis	Artery Aorta	GTEx
rs473297	RP11-685N10.1	cis	Artery Tibial	GTEx
rs473297	MRE11A	cis	cerebellum	SCAN
rs473297	MRE11A	cis	lung	GTEx
rs473297	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs473297	MRE11A	cis	Nerve Tibial	GTEx
rs473297	MRE11A	cis	Esophagus Mucosa	GTEx
rs473297	ABLIM1	trans	lymphoblastoid	seeQTL
rs473297	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs473297	RP11-685N10.1	cis	Stomach	GTEx
rs473297	MRE11A	cis	Adipose Subcutaneous	GTEx
rs473297	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs473297	MRE11A	cis	Stomach	GTEx
rs473297	MRE11A	cis	parietal	SCAN
rs473297	MRE11A	cis	Thyroid	GTEx
rs473297	MRE11A	cis	Artery Tibial	GTEx
rs473297	MRE11A	cis	Heart Left Ventricle	GTEx
rs473297	RP11-685N10.1	cis	lung	GTEx
rs473297	RP11-685N10.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94225600-94228600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:94227400-94228600	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr11:94227600-94228600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:94227600-94228600	Flanking Active TSS	Dnd41	blood
5	chr11:94227600-94233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:94227600-94234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:94227800-94228600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:94227800-94228600	Enhancers	Fetal Lung	lung
9	chr11:94227800-94229800	Weak transcription	Placenta	Placenta
10	chr11:94227800-94230000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:94227800-94230000	Weak transcription	Fetal Intestine Large	intestine
12	chr11:94227800-94230000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:94227800-94230000	Weak transcription	Ovary	ovary
14	chr11:94227800-94230000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:94227800-94230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:94227800-94231000	Weak transcription	Brain Substantia Nigra	brain
17	chr11:94227800-94231200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:94227800-94231200	Weak transcription	Colonic Mucosa	Colon
19	chr11:94227800-94231200	Weak transcription	Esophagus	oesophagus
20	chr11:94227800-94231200	Weak transcription	Left Ventricle	heart
21	chr11:94227800-94231200	Weak transcription	Lung	lung
22	chr11:94227800-94231200	Weak transcription	Right Ventricle	heart
23	chr11:94227800-94231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:94227800-94231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:94227800-94232800	Weak transcription	Spleen	Spleen
26	chr11:94227800-94235400	Weak transcription	Pancreas	Pancrea
27	chr11:94227800-94236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:94227800-94237000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:94227800-94237000	Weak transcription	Aorta	Aorta
30	chr11:94227800-94238400	Weak transcription	Small Intestine	intestine
31	chr11:94227800-94238800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:94227800-94245200	Weak transcription	Gastric	stomach
33	chr11:94228000-94228600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:94228000-94228600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:94228000-94228600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:94228000-94228600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:94228000-94228600	Enhancers	Brain Angular Gyrus	brain
38	chr11:94228000-94228600	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:94228000-94228600	Active TSS	Brain Germinal Matrix	brain
40	chr11:94228000-94228600	Enhancers	Colon Smooth Muscle	Colon
41	chr11:94228000-94228600	Enhancers	Fetal Brain Female	brain
42	chr11:94228000-94228600	Enhancers	Fetal Heart	heart
43	chr11:94228000-94228600	Enhancers	Fetal Intestine Small	intestine
44	chr11:94228000-94228600	Flanking Active TSS	GM12878-XiMat	blood
45	chr11:94228000-94228600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:94228000-94229000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:94228000-94229000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr11:94228000-94229000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:94228000-94229000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:94228000-94229000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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