Variant report

Variant	rs62190347
Chromosome Location	chr2:230996368-230996369
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	chr2:230994161..230996459-chr2:230999501..231001005,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12052680	0.81[EUR][1000 genomes]
rs1549572	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16826639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16826643	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16826700	0.93[ASN][1000 genomes]
rs34371224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35376505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35490805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35959887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58937409	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59556384	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59987040	0.81[ASN][1000 genomes]
rs62190338	0.80[AMR][1000 genomes]
rs62190342	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62190343	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62190344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62190348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66869073	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714834	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6715401	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6743476	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6758938	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6759053	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7596380	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv875942	chr2:230959532-231008980	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875943	chr2:230960946-231027162	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:230992800-230999200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:230993800-230997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:230994000-230998800	Weak transcription	HSMMtube	muscle
4	chr2:230994200-230996400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:230994200-230996800	Enhancers	NHLF	lung
6	chr2:230994200-230997400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:230994400-230998400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:230994400-230998400	Weak transcription	Spleen	Spleen
9	chr2:230994400-231000200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:230994600-230996400	Enhancers	NHDF-Ad	bronchial
11	chr2:230994600-231000200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:230995000-230996400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:230995400-230996800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:230995600-230998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:230995800-230996400	Enhancers	Fetal Muscle Leg	muscle
16	chr2:230995800-230996400	Enhancers	HUVEC	blood vessel
17	chr2:230995800-230996800	Enhancers	Ovary	ovary
18	chr2:230995800-230997600	Enhancers	Lung	lung
19	chr2:230996000-230996400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:230996000-230996400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:230996000-230996400	Enhancers	HepG2	liver
22	chr2:230996000-230996600	Weak transcription	Right Atrium	heart
23	chr2:230996000-230996800	Enhancers	Left Ventricle	heart
24	chr2:230996000-230999000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:230996200-230996400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:230996200-230996400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:230996200-230996400	Enhancers	Small Intestine	intestine
28	chr2:230996200-230997000	Enhancers	Adipose Nuclei	Adipose
29	chr2:230996200-230999000	Weak transcription	Osteobl	bone

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