Variant report

Variant	rs57402755
Chromosome Location	chr2:149067563-149067564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57336274	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60029784	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965312	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965313	0.86[AFR][1000 genomes]
rs73965354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965358	1.00[AMR][1000 genomes]
rs73965359	1.00[AMR][1000 genomes]
rs73965367	1.00[AMR][1000 genomes]
rs73965372	1.00[AMR][1000 genomes]
rs7568878	1.00[AMR][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	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
2	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
3	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
4	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:22 , 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	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
5	chr2:149042200-149070600	Weak transcription	Ovary	ovary
6	chr2:149045600-149070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:149055200-149072400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:149056000-149070000	Weak transcription	Primary T cells from cord blood	blood
9	chr2:149056000-149076400	Weak transcription	Esophagus	oesophagus
10	chr2:149056600-149070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:149056800-149070600	Weak transcription	Thymus	Thymus
12	chr2:149058600-149076400	Weak transcription	Aorta	Aorta
13	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:149061000-149070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:149061200-149095800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:149063000-149070600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:149063200-149070200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:149063400-149070400	Weak transcription	Fetal Stomach	stomach
19	chr2:149063400-149080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:149063800-149073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:149064000-149071200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:149067200-149095800	Weak transcription	HSMM	muscle

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