Variant report

Variant	rs73965305
Chromosome Location	chr2:149055036-149055037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12463445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464464	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474162	0.88[EUR][1000 genomes]
rs12474340	0.88[EUR][1000 genomes]
rs12474357	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12478460	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2382212	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56990703	0.86[AFR][1000 genomes]
rs59059734	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59745578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578733	1.00[EUR][1000 genomes];0.94[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	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: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	chr2:149017400-149062800	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	chr2:149029400-149055400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
8	chr2:149031600-149055200	Weak transcription	Primary T cells from cord blood	blood
9	chr2:149041600-149058200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:149042200-149070600	Weak transcription	Ovary	ovary
11	chr2:149042600-149057600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:149042800-149058000	Weak transcription	HSMM	muscle
13	chr2:149043400-149063600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:149045600-149055600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:149045600-149060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:149045600-149070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:149046800-149055400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:149050600-149062600	Weak transcription	Fetal Stomach	stomach
19	chr2:149050800-149056400	Weak transcription	Thymus	Thymus
20	chr2:149052800-149058400	Weak transcription	Aorta	Aorta
21	chr2:149053000-149060600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:149053800-149057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:149054400-149055200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:149054600-149057800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:149054800-149055600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:149054800-149057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:149055000-149055200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:149055000-149055400	Enhancers	HUES64 Cell Line	embryonic stem cell

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