Variant report

Variant	rs13427839
Chromosome Location	chr2:149045796-149045797
allele	C/T
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:9)

rs_ID	r²[population]
rs10211100	0.87[ASN][1000 genomes]
rs12691782	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12691784	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13393889	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13413027	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972354	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7567802	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7605678	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9653191	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv523090	chr2:149037012-149110873	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3382954	chr2:149044882-149046980	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149017400-149050600	Weak transcription	Thymus	Thymus
3	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
4	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:149017600-149049000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:149029400-149055400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
10	chr2:149031600-149046200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:149031600-149055200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:149036600-149047000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:149040000-149046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:149040400-149046200	Weak transcription	NHDF-Ad	bronchial
15	chr2:149040600-149046000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:149041400-149045800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:149041400-149046200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:149041600-149058200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:149042000-149048400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:149042200-149070600	Weak transcription	Ovary	ovary
21	chr2:149042600-149057600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:149042800-149058000	Weak transcription	HSMM	muscle
23	chr2:149043000-149051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:149043400-149063600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:149045600-149048400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:149045600-149055600	Weak transcription	Primary B cells from cord blood	blood
27	chr2:149045600-149060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:149045600-149070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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