Variant report

Variant	rs12464464
Chromosome Location	chr2:149060061-149060062
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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466152	0.83[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	0.83[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	0.83[AMR][1000 genomes]
rs59059734	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59745578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73965305	0.83[AMR][1000 genomes];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:43 , 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	chr2:149042200-149070600	Weak transcription	Ovary	ovary
8	chr2:149043400-149063600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:149045600-149060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:149045600-149070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:149050600-149062600	Weak transcription	Fetal Stomach	stomach
12	chr2:149053000-149060600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:149055200-149072400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:149055600-149060200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:149056000-149060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:149056000-149060800	Weak transcription	NH-A	brain
17	chr2:149056000-149061600	Weak transcription	Primary B cells from cord blood	blood
18	chr2:149056000-149063000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:149056000-149070000	Weak transcription	Primary T cells from cord blood	blood
20	chr2:149056000-149076400	Weak transcription	Esophagus	oesophagus
21	chr2:149056600-149070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:149056800-149070600	Weak transcription	Thymus	Thymus
23	chr2:149057800-149064000	Enhancers	Fetal Brain Male	brain
24	chr2:149058200-149060400	Weak transcription	HSMM	muscle
25	chr2:149058600-149060800	Weak transcription	Fetal Brain Female	brain
26	chr2:149058600-149062400	Enhancers	Brain Germinal Matrix	brain
27	chr2:149058600-149063000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:149058600-149063000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:149058600-149076400	Weak transcription	Aorta	Aorta
30	chr2:149058800-149060200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:149058800-149060800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:149059200-149060600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:149059200-149064800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:149059400-149060600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:149059400-149060800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:149059400-149063000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:149059600-149060200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:149059600-149060600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:149059600-149063400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:149059600-149064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:149059600-149064600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:149060000-149063000	Weak transcription	HSMMtube	muscle

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