Variant report

Variant	rs13422826
Chromosome Location	chr2:149056842-149056843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10084377	1.00[AMR][1000 genomes]
rs10168627	0.89[AFR][1000 genomes]
rs10172107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10172459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10175126	1.00[AFR][1000 genomes]
rs10179991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180813	0.89[AFR][1000 genomes]
rs10181040	0.89[AFR][1000 genomes]
rs10181462	1.00[AFR][1000 genomes]
rs10186976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10187257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191591	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191867	0.89[AFR][1000 genomes]
rs10197288	0.89[AFR][1000 genomes]
rs10199100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199661	0.89[AFR][1000 genomes]
rs10206286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385606	0.89[AFR][1000 genomes]
rs13385697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387197	0.89[AFR][1000 genomes]
rs13397712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399551	0.89[AFR][1000 genomes]
rs13403934	0.86[AFR][1000 genomes]
rs13409565	1.00[AMR][1000 genomes]
rs13417167	0.89[AFR][1000 genomes]
rs13419602	1.00[AMR][1000 genomes]
rs13420788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426081	1.00[AFR][1000 genomes]
rs28405957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28594070	1.00[AFR][1000 genomes]
rs28605140	1.00[AMR][1000 genomes]
rs28647742	0.96[AFR][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	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	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
3	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
4	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
5	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

No data

Chromatin state (count:42 , 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	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
3	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
7	chr2:149041600-149058200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:149042200-149070600	Weak transcription	Ovary	ovary
9	chr2:149042600-149057600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:149042800-149058000	Weak transcription	HSMM	muscle
11	chr2:149043400-149063600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:149045600-149060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:149045600-149070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:149050600-149062600	Weak transcription	Fetal Stomach	stomach
15	chr2:149052800-149058400	Weak transcription	Aorta	Aorta
16	chr2:149053000-149060600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:149053800-149057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:149054600-149057800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:149054800-149057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:149055200-149072400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:149055400-149058600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:149055600-149060200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:149055800-149059200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:149055800-149059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:149055800-149059600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:149055800-149059600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:149056000-149058000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:149056000-149058200	Weak transcription	Osteobl	bone
29	chr2:149056000-149059000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:149056000-149059200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:149056000-149059600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:149056000-149060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:149056000-149060800	Weak transcription	NH-A	brain
34	chr2:149056000-149061600	Weak transcription	Primary B cells from cord blood	blood
35	chr2:149056000-149063000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:149056000-149070000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:149056000-149076400	Weak transcription	Esophagus	oesophagus
38	chr2:149056200-149057400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:149056400-149058000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:149056600-149058200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:149056600-149070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:149056800-149070600	Weak transcription	Thymus	Thymus

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