Variant report

Variant	rs4431452
Chromosome Location	chr6:147272148-147272149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147235428..147237038-chr6:147271559..147273136,2	K562	blood:
2	chr6:147270092..147272159-chr6:147273623..147276207,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHPRH-7	chr6:147271365-147272295	ENSG00000272397.1

Variant related genes	Relation type
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11155492	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11155493	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11155494	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1408577	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1529014	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1529021	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1881662	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2181942	0.81[AMR][1000 genomes]
rs2328774	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4267966	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4323329	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4445078	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4452660	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4551178	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4605904	0.80[EUR][1000 genomes]
rs4895706	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4896897	0.82[AMR][1000 genomes]
rs6913861	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7742886	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7774249	0.80[EUR][1000 genomes]
rs9322081	0.82[AMR][1000 genomes]
rs9322082	0.84[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9377038	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9386176	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9399592	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9403832	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9403834	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147265600-147276600	Weak transcription	Pancreas	Pancrea
2	chr6:147268800-147277800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:147270400-147272600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:147270800-147272200	Enhancers	K562	blood
5	chr6:147271000-147272400	Enhancers	Fetal Intestine Small	intestine
6	chr6:147271000-147272600	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:147271200-147272400	Enhancers	Fetal Intestine Large	intestine
8	chr6:147271400-147272200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:147271400-147272200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:147271400-147272400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:147271600-147272200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:147271800-147272200	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:147271800-147272400	Enhancers	Lung	lung
14	chr6:147271800-147272400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:147271800-147272400	Enhancers	Spleen	Spleen
16	chr6:147272000-147272400	Enhancers	HepG2	liver
17	chr6:147272000-147272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:147272000-147272600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:147272000-147277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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