Variant report

Variant	rs12612401
Chromosome Location	chr2:167995965-167995966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10497319	0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs12613172	1.00[EUR][1000 genomes]
rs12619545	1.00[EUR][1000 genomes]
rs12620446	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12621191	1.00[EUR][1000 genomes]
rs12622080	1.00[EUR][1000 genomes]
rs16853054	1.00[EUR][1000 genomes]
rs16853083	0.82[CHB][hapmap];1.00[EUR][1000 genomes]
rs2291111	0.82[CHB][hapmap]
rs28562247	1.00[EUR][1000 genomes]
rs3749003	1.00[CHB][hapmap]
rs57732129	1.00[EUR][1000 genomes]
rs58783083	1.00[EUR][1000 genomes]
rs59955159	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167989200-167998600	Weak transcription	Left Ventricle	heart
2	chr2:167990400-167996600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:167991600-167997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:167992000-167996800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:167992200-167996800	Weak transcription	HSMMtube	muscle
6	chr2:167992200-167999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:167992400-167996200	Weak transcription	Fetal Heart	heart
8	chr2:167992400-167996600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:167992600-167996800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:167992600-167996800	Weak transcription	NH-A	brain
11	chr2:167992600-167996800	Weak transcription	Osteobl	bone
12	chr2:167992600-167997200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:167993400-167996800	Weak transcription	HUVEC	blood vessel
14	chr2:167993400-167997000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:167993600-167997200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:167993800-167996200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:167993800-167996600	Weak transcription	HSMM	muscle
18	chr2:167993800-167996800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:167993800-167997000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:167993800-167997000	Weak transcription	Psoas Muscle	Psoas
21	chr2:167993800-167999800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:167994000-167996200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:167994000-167996200	Weak transcription	HMEC	breast
24	chr2:167994200-167996800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:167994200-167996800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:167994400-167996000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:167994400-167996800	Weak transcription	NHDF-Ad	bronchial
28	chr2:167995000-167996200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:167995000-167999400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:167995000-167999600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:167995200-167996800	Weak transcription	NHLF	lung
32	chr2:167995600-167996600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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