Variant report

Variant	rs595127
Chromosome Location	chr11:94270825-94270826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94265063..94266906-chr11:94270765..94272464,2	K562	blood:
2	chr11:94268858..94270975-chr11:94276312..94278364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134627	Chromatin interaction
ENSG00000196371	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 16 )

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

rs_ID	r²[population]
rs2508460	0.80[AMR][1000 genomes]
rs2508782	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2509321	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4342993	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4593974	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs486556	0.81[EUR][1000 genomes]
rs489200	0.82[EUR][1000 genomes]
rs492001	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs525057	0.85[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs525921	0.85[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs536768	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs544337	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs547207	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs553634	0.81[AMR][1000 genomes]
rs567052	0.83[ASN][1000 genomes]
rs571044	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs582049	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs582077	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs610899	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs612075	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs612632	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs614424	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs628079	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs628164	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs628728	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs629119	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs629156	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs642744	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs647249	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs658234	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659489	0.80[AMR][1000 genomes]
rs693815	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs695093	0.85[CEU][hapmap];0.83[EUR][1000 genomes]

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs595127	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs595127	MRE11A	cis	cerebellum	SCAN
rs595127	RP11-685N10.1	cis	lung	GTEx
rs595127	MRE11A	cis	lung	GTEx
rs595127	MRE11A	cis	Adipose Subcutaneous	GTEx
rs595127	MRE11A	cis	parietal	SCAN
rs595127	MRE11A	cis	Artery Tibial	GTEx
rs595127	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs595127	RP11-685N10.1	cis	Artery Tibial	GTEx
rs595127	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs595127	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs595127	MRE11A	cis	Nerve Tibial	GTEx
rs595127	HEPHL1	cis	cerebellum	SCAN
rs595127	MRE11A	cis	Esophagus Muscularis	GTEx
rs595127	GPR83	cis	parietal	SCAN
rs595127	MRE11A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94266400-94271200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:94267600-94276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:94267600-94276400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:94268600-94271200	Enhancers	Stomach Mucosa	stomach
5	chr11:94268800-94271400	Enhancers	Fetal Intestine Small	intestine
6	chr11:94268800-94273400	Enhancers	Fetal Intestine Large	intestine
7	chr11:94268800-94273800	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:94269400-94271000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:94269400-94271200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:94269600-94271000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:94269600-94271200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:94269800-94271200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:94270000-94271200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:94270000-94271200	Enhancers	HMEC	breast
15	chr11:94270000-94271200	Enhancers	HSMM	muscle
16	chr11:94270200-94271000	Enhancers	Small Intestine	intestine
17	chr11:94270200-94271200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:94270200-94271200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:94270200-94271200	Enhancers	Adipose Nuclei	Adipose
20	chr11:94270200-94271200	Enhancers	Colonic Mucosa	Colon
21	chr11:94270200-94271200	Enhancers	Right Atrium	heart
22	chr11:94270200-94271200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:94270400-94271000	Weak transcription	Aorta	Aorta
24	chr11:94270400-94271000	Weak transcription	Gastric	stomach
25	chr11:94270400-94271200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:94270400-94271200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:94270600-94271000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:94270600-94271200	Enhancers	Hela-S3	cervix
29	chr11:94270600-94271200	Enhancers	NHLF	lung
30	chr11:94270600-94276400	Weak transcription	Fetal Lung	lung
31	chr11:94270800-94271000	Enhancers	HSMMtube	muscle
32	chr11:94270800-94271000	Bivalent Enhancer	NHEK	skin
33	chr11:94270800-94271200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:94270800-94271200	Enhancers	Osteobl	bone
35	chr11:94270800-94272000	Enhancers	Rectal Mucosa Donor 29	rectum

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