Variant report

Variant	rs56795645
Chromosome Location	chr2:145703760-145703761
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145696000..145699095-chr2:145703578..145707289,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10496971	0.80[AMR][1000 genomes]
rs11679718	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11689317	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12621647	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13001583	0.83[AMR][1000 genomes]
rs13004410	0.82[AMR][1000 genomes]
rs13009916	0.83[AMR][1000 genomes]
rs13010262	0.83[AMR][1000 genomes]
rs13010313	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1371047	0.82[AMR][1000 genomes]
rs1438897	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1438898	0.85[ASN][1000 genomes]
rs16824386	0.83[AMR][1000 genomes]
rs17407658	0.81[ASN][1000 genomes]
rs1898732	0.85[AMR][1000 genomes]
rs34948552	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34985138	0.82[AMR][1000 genomes]
rs35844147	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4662406	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67969609	0.82[AMR][1000 genomes]
rs72854449	0.85[ASN][1000 genomes]
rs9646682	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:145696200-145708800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:145699000-145704600	Enhancers	NHDF-Ad	bronchial
3	chr2:145699800-145705000	Enhancers	Fetal Intestine Large	intestine
4	chr2:145699800-145705000	Enhancers	Fetal Intestine Small	intestine
5	chr2:145700000-145705800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:145701200-145703800	Weak transcription	Fetal Kidney	kidney
7	chr2:145701200-145703800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:145701200-145704000	Weak transcription	HSMMtube	muscle
9	chr2:145701200-145705000	Weak transcription	Psoas Muscle	Psoas
10	chr2:145702400-145703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:145702400-145703800	Weak transcription	Fetal Lung	lung
12	chr2:145702400-145703800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:145702400-145703800	Weak transcription	HSMM	muscle
14	chr2:145702400-145704000	Weak transcription	NHLF	lung
15	chr2:145702400-145704600	Enhancers	A549	lung
16	chr2:145702600-145703800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:145702600-145703800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:145702600-145703800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:145702600-145703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:145702600-145708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:145702800-145703800	Weak transcription	NHEK	skin
22	chr2:145703000-145704200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:145703000-145705200	Weak transcription	HUVEC	blood vessel
24	chr2:145703200-145704000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:145703200-145708400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:145703200-145708400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:145703600-145705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:145703600-145705800	Enhancers	Osteobl	bone
29	chr2:145703600-145706000	Enhancers	HMEC	breast

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