Variant report

Variant	rs67834052
Chromosome Location	chr1:210615142-210615143
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	chr1:210545855..210547911-chr1:210612937..210615260,3	K562	blood:
2	chr1:210612929..210615850-chr1:210617890..210620157,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11119499	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588425	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142417	0.87[AFR][1000 genomes]
rs3765839	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3765849	0.96[ASN][1000 genomes]
rs3765850	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1001747	chr1:210604734-210615281	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv999833	chr1:210604734-210620211	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv2764216	chr1:210604746-210615293	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr1:210567400-210617200	Weak transcription	Left Ventricle	heart
2	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:210592800-210625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:210609200-210619800	Weak transcription	Esophagus	oesophagus
5	chr1:210611600-210618400	Weak transcription	Thymus	Thymus
6	chr1:210611600-210639600	Weak transcription	Aorta	Aorta
7	chr1:210612600-210618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:210613000-210618600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210613600-210619600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:210613800-210615200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:210613800-210619400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:210614000-210618400	Weak transcription	Placenta	Placenta
13	chr1:210614200-210619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:210614200-210619200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:210614200-210619400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:210614600-210618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:210614600-210619400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:210614600-210619400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:210614600-210619400	Weak transcription	NH-A	brain
20	chr1:210614600-210619800	Weak transcription	A549	lung
21	chr1:210614600-210641200	Weak transcription	Gastric	stomach
22	chr1:210614800-210618800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:210614800-210618800	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:210614800-210619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:210614800-210623800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:210615000-210618000	Weak transcription	HSMMtube	muscle
27	chr1:210615000-210618400	Weak transcription	HSMM	muscle
28	chr1:210615000-210619000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:210615000-210619600	Weak transcription	Osteobl	bone

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