Variant report

Variant	rs472344
Chromosome Location	chr11:94228269-94228270
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

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	chr11:94228198-94228393	K562	blood:	n/a	n/a
3	POLR2A	chr11:94226428-94228927	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr11:94228031-94228361	MCF10A-Er-Src	breast:	n/a	n/a
5	ELK1	chr11:94228224-94228295	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

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	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
4	chr11:94180184..94182302-chr11:94227182..94229296,2	K562	blood:
5	chr11:94226137..94228706-chr11:94300541..94302920,2	K562	blood:
6	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
7	chr11:93914625..93916953-chr11:94227203..94228744,2	MCF-7	breast:

No data

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

Extended variants
information (count: 58 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1014666	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020799	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11020803	0.80[CEU][hapmap]
rs12224966	0.80[CEU][hapmap]
rs1270146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];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];0.92[AFR][1000 genomes];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]
rs4342993	0.80[EUR][1000 genomes]
rs4593974	0.81[EUR][1000 genomes]
rs473297	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];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];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];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs496797	1.00[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[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs500558	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs518276	0.80[CEU][hapmap]
rs524350	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525057	0.83[CEU][hapmap]
rs525921	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs533984	0.80[CEU][hapmap]
rs536768	0.83[EUR][1000 genomes]
rs544337	0.86[EUR][1000 genomes]
rs547207	0.82[EUR][1000 genomes]
rs550255	0.80[CEU][hapmap]
rs553634	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs557148	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs569143	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs571044	0.87[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	0.80[CEU][hapmap]
rs610899	0.92[CEU][hapmap];0.83[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];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs625245	0.80[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	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
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];0.96[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs684507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693815	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs695093	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs472344	RP11-685N10.1	cis	Artery Aorta	GTEx
rs472344	MRE11A	cis	Thyroid	GTEx
rs472344	MRE11A	cis	Esophagus Mucosa	GTEx
rs472344	MRE11A	cis	Artery Tibial	GTEx
rs472344	MRE11A	cis	Adipose Subcutaneous	GTEx
rs472344	RP11-685N10.1	cis	Artery Tibial	GTEx
rs472344	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs472344	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs472344	MRE11A	cis	Heart Left Ventricle	GTEx
rs472344	RP11-685N10.1	cis	Thyroid	GTEx
rs472344	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs472344	MRE11A	cis	Stomach	GTEx
rs472344	RP11-685N10.1	cis	lung	GTEx
rs472344	MRE11A	cis	lung	GTEx
rs472344	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs472344	MRE11A	cis	Nerve Tibial	GTEx
rs472344	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs472344	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs472344	MRE11A	cis	Esophagus Muscularis	GTEx
rs472344	RP11-685N10.1	cis	Stomach	GTEx
rs472344	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	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	chr11:94225800-94228400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:94226000-94228400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:94226000-94228400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:94227400-94228400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:94227400-94228600	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr11:94227600-94228400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr11:94227600-94228400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:94227600-94228600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:94227600-94228600	Flanking Active TSS	Dnd41	blood
11	chr11:94227600-94233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:94227600-94234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:94227800-94228400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr11:94227800-94228600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:94227800-94228600	Enhancers	Fetal Lung	lung
16	chr11:94227800-94229800	Weak transcription	Placenta	Placenta
17	chr11:94227800-94230000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:94227800-94230000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:94227800-94230000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:94227800-94230000	Weak transcription	Ovary	ovary
21	chr11:94227800-94230000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:94227800-94230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:94227800-94231000	Weak transcription	Brain Substantia Nigra	brain
24	chr11:94227800-94231200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:94227800-94231200	Weak transcription	Colonic Mucosa	Colon
26	chr11:94227800-94231200	Weak transcription	Esophagus	oesophagus
27	chr11:94227800-94231200	Weak transcription	Left Ventricle	heart
28	chr11:94227800-94231200	Weak transcription	Lung	lung
29	chr11:94227800-94231200	Weak transcription	Right Ventricle	heart
30	chr11:94227800-94231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:94227800-94231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:94227800-94232800	Weak transcription	Spleen	Spleen
33	chr11:94227800-94235400	Weak transcription	Pancreas	Pancrea
34	chr11:94227800-94236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:94227800-94237000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:94227800-94237000	Weak transcription	Aorta	Aorta
37	chr11:94227800-94238400	Weak transcription	Small Intestine	intestine
38	chr11:94227800-94238800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:94227800-94245200	Weak transcription	Gastric	stomach
40	chr11:94228000-94228400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:94228000-94228400	Enhancers	Primary B cells from cord blood	blood
42	chr11:94228000-94228400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:94228000-94228400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:94228000-94228400	Enhancers	Brain Hippocampus Middle	brain
45	chr11:94228000-94228400	Enhancers	Fetal Stomach	stomach
46	chr11:94228000-94228400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr11:94228000-94228400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:94228000-94228600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:94228000-94228600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:94228000-94228600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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