Variant report

Variant	rs17023211
Chromosome Location	chr1:119624967-119624968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17023092	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023108	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023129	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023317	1.00[AMR][1000 genomes]
rs17023323	1.00[AMR][1000 genomes]
rs2645306	1.00[MEX][hapmap]
rs2810933	0.86[ASW][hapmap];1.00[MEX][hapmap]
rs4600087	1.00[MEX][hapmap]
rs56083438	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57667302	1.00[AMR][1000 genomes]
rs60375409	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112264	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112509	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112511	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112512	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114807	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114822	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119576000-119626000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:119587800-119634200	Weak transcription	Left Ventricle	heart
3	chr1:119589800-119629600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:119590600-119627400	Weak transcription	Aorta	Aorta
5	chr1:119600400-119627600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:119606800-119626000	Weak transcription	Esophagus	oesophagus
7	chr1:119606800-119633200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:119606800-119634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:119617200-119626600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:119619200-119629400	Weak transcription	Primary B cells from cord blood	blood
11	chr1:119619400-119627600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:119619600-119634400	Weak transcription	Hela-S3	cervix
13	chr1:119623400-119626600	Weak transcription	Right Atrium	heart
14	chr1:119623600-119627600	Weak transcription	Ovary	ovary
15	chr1:119623600-119630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:119623800-119625400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:119623800-119626000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:119623800-119628000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:119624000-119642400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:119624200-119625200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:119624200-119640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:119624600-119625000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:119624600-119626600	Weak transcription	Osteobl	bone
24	chr1:119624600-119626800	Weak transcription	NHDF-Ad	bronchial
25	chr1:119624600-119627400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:119624600-119627600	Weak transcription	HSMMtube	muscle
27	chr1:119624600-119627600	Weak transcription	NHLF	lung
28	chr1:119624600-119630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:119624600-119630800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:119624800-119626600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:119624800-119636000	Weak transcription	HSMM	muscle

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