Variant report

Variant	rs34339453
Chromosome Location	chr2:150987621-150987622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12619142	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12624103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004929	1.00[AFR][1000 genomes]
rs13021441	1.00[AFR][1000 genomes]
rs13028516	1.00[AFR][1000 genomes]
rs16827807	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16827843	0.81[ASN][1000 genomes]
rs35743118	1.00[AFR][1000 genomes]
rs57227316	0.98[EUR][1000 genomes]
rs6705008	0.81[ASN][1000 genomes]
rs6705368	0.81[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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150977800-150990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:150983600-150990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:150983600-150990400	Weak transcription	Fetal Kidney	kidney
4	chr2:150984200-150990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:150984600-150989800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:150984600-150990000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:150984600-150990800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:150984800-150989800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:150984800-150990000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:150984800-150990000	Weak transcription	NHDF-Ad	bronchial
11	chr2:150984800-150990000	Weak transcription	NHLF	lung
12	chr2:150984800-150990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:150984800-150990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:150984800-150990800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:150984800-150997800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:150985000-150989800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:150985000-150989800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:150985000-150989800	Weak transcription	NH-A	brain
19	chr2:150985000-150990000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:150985000-150990000	Weak transcription	Osteobl	bone
21	chr2:150985200-150988400	Weak transcription	HUVEC	blood vessel
22	chr2:150986200-150989800	Enhancers	A549	lung
23	chr2:150986400-150990200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:150987000-150993000	Enhancers	Fetal Lung	lung

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