Variant report

Variant	rs17011162
Chromosome Location	chr1:222133680-222133681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11577080	0.96[ASN][1000 genomes]
rs11579174	0.96[ASN][1000 genomes]
rs11588928	0.93[ASN][1000 genomes]
rs11589814	1.00[ASN][1000 genomes]
rs11589963	0.96[ASN][1000 genomes]
rs11589997	0.96[ASN][1000 genomes]
rs11590034	0.96[ASN][1000 genomes]
rs11590843	0.93[ASN][1000 genomes]
rs17011133	0.87[ASN][1000 genomes]
rs17011142	0.91[ASN][1000 genomes]
rs56779601	1.00[ASN][1000 genomes]
rs56905116	0.87[ASN][1000 genomes]
rs57015712	0.87[ASN][1000 genomes]
rs58183247	1.00[ASN][1000 genomes]
rs58687635	0.87[ASN][1000 genomes]
rs58766825	0.98[ASN][1000 genomes]
rs58820731	0.83[ASN][1000 genomes]
rs58900783	0.83[ASN][1000 genomes]
rs59610764	1.00[ASN][1000 genomes]
rs60180955	0.96[ASN][1000 genomes]
rs60321950	0.87[ASN][1000 genomes]
rs60602367	0.91[ASN][1000 genomes]
rs60617250	0.87[ASN][1000 genomes]
rs60839601	0.91[ASN][1000 genomes]
rs60965848	0.87[ASN][1000 genomes]
rs74145036	0.91[ASN][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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222130800-222133800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:222132000-222133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:222132000-222133800	Weak transcription	HSMM	muscle
4	chr1:222132000-222134800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:222132000-222134800	Weak transcription	NHEK	skin
6	chr1:222132000-222135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:222132000-222135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:222132200-222134200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:222132200-222135200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:222132400-222133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:222132400-222133800	Weak transcription	Hela-S3	cervix
12	chr1:222132400-222134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:222132600-222133800	Weak transcription	HMEC	breast
14	chr1:222133000-222134200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:222133200-222134800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:222133400-222134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:222133400-222137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:222133600-222134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:222133600-222134400	Weak transcription	NHLF	lung
20	chr1:222133600-222135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:222133600-222135800	Enhancers	K562	blood
22	chr1:222133600-222136200	Enhancers	HSMMtube	muscle
23	chr1:222133600-222137400	Enhancers	Dnd41	blood

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