Variant report

Variant	rs11685654
Chromosome Location	chr2:114631022-114631023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114623730..114625967-chr2:114629476..114631901,2	K562	blood:
2	chr2:114630936..114633631-chr2:114645120..114648314,3	MCF-7	breast:
3	chr2:114623730..114628416-chr2:114629384..114634223,5	K562	blood:

Variant related genes	Relation type
ENSG00000270019	Chromatin interaction
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1028245	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1060906	1.00[JPT][hapmap]
rs11123214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11675908	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11684182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11685296	0.89[ASN][1000 genomes]
rs11691664	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1403401	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17197632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17269836	1.00[JPT][hapmap]
rs35167892	0.88[ASN][1000 genomes]
rs4241126	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4571059	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849285	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849286	0.89[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849287	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849288	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849289	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs4849290	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs4849291	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849296	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57106417	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61050591	0.89[ASN][1000 genomes]
rs62169889	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62169929	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62169935	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62170155	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62170159	0.85[ASN][1000 genomes]
rs62171760	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62171761	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62171768	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62171769	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72835479	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7576537	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7579001	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7605071	0.83[CHB][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11685654	SLC35F5	cis	Thyroid	GTEx
rs11685654	RPL23AP7	cis	Whole Blood	GTEx
rs11685654	DDX11L2	cis	Whole Blood	GTEx
rs11685654	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs11685654	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs11685654	RPL23AP7	cis	Artery Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:114603800-114631200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:114613200-114631400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:114619000-114631400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:114621200-114639600	Weak transcription	GM12878-XiMat	blood
7	chr2:114621400-114638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:114625800-114633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:114626200-114631600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:114626400-114635000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:114626600-114631200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:114626600-114634200	Weak transcription	Thymus	Thymus
13	chr2:114626600-114634400	Weak transcription	Pancreas	Pancrea
14	chr2:114626800-114631200	Weak transcription	Fetal Thymus	thymus
15	chr2:114626800-114631400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:114626800-114635000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:114629200-114631800	Enhancers	NH-A	brain
18	chr2:114629800-114632400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:114630000-114632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:114630200-114631400	Weak transcription	HMEC	breast
21	chr2:114630200-114634200	Weak transcription	NHLF	lung
22	chr2:114630200-114634600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:114630200-114635000	Weak transcription	HSMM	muscle
24	chr2:114630200-114635200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:114630400-114631400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:114630400-114631400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:114630400-114631400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:114630400-114631400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:114630400-114634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:114630400-114635000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:114630400-114635000	Weak transcription	HSMMtube	muscle
32	chr2:114630400-114635000	Weak transcription	NHDF-Ad	bronchial
33	chr2:114630400-114635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:114630400-114635200	Weak transcription	Osteobl	bone
35	chr2:114630400-114635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:114630800-114631400	Enhancers	Spleen	Spleen

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