Variant report

Variant	rs6756587
Chromosome Location	chr2:114741437-114741438
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	chr2:114719034..114722031-chr2:114739045..114742914,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11123222	0.81[AFR][1000 genomes]
rs11675137	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11681666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11694305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11695499	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12991964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015969	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13421045	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1843304	0.81[AFR][1000 genomes]
rs3982224	0.82[ASN][1000 genomes]
rs62169941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6756587	DDX11L2	cis	Whole Blood	GTEx
rs6756587	CHCHD5	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:114733400-114743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:114733800-114741600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:114734000-114746000	Weak transcription	Aorta	Aorta
6	chr2:114734000-114751800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:114734400-114749800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:114734800-114741800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:114734800-114742400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:114734800-114744000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:114736000-114742600	Weak transcription	NHLF	lung
12	chr2:114736200-114761000	Weak transcription	HSMMtube	muscle
13	chr2:114737400-114742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:114737400-114746000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:114737600-114751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:114737800-114754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:114738000-114741800	Weak transcription	GM12878-XiMat	blood
18	chr2:114738000-114742400	Weak transcription	A549	lung
19	chr2:114738000-114742400	Weak transcription	NHEK	skin
20	chr2:114738000-114744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:114738000-114748800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:114738600-114749400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:114738800-114742200	Weak transcription	HepG2	liver
24	chr2:114739200-114744600	Weak transcription	NHDF-Ad	bronchial
25	chr2:114739600-114742600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:114739600-114752600	Weak transcription	NH-A	brain
27	chr2:114739800-114742400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:114739800-114742400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:114739800-114742400	Weak transcription	Osteobl	bone
30	chr2:114740600-114741600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:114740600-114745200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:114741200-114761000	Weak transcription	HSMM	muscle

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