Variant report

Variant	rs3114951
Chromosome Location	chr2:187713412-187713413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10179285	1.00[CHD][hapmap]
rs10931257	0.96[ASN][1000 genomes]
rs11690816	0.84[EUR][1000 genomes]
rs12612668	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs12616053	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs1451557	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1901342	0.81[ASN][1000 genomes]
rs2122870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3100021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3100022	0.81[ASN][1000 genomes]
rs3100041	0.84[ASN][1000 genomes]
rs3114921	0.94[CHD][hapmap];0.81[ASN][1000 genomes]
rs3114949	0.94[CHD][hapmap]
rs3114950	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs56201830	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6705578	1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs6734301	0.81[ASN][1000 genomes]
rs6750068	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757716	0.89[ASN][1000 genomes]
rs73979373	0.89[ASN][1000 genomes]
rs7559533	0.87[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187713000-187714000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:187713000-187714400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:187713000-187714600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:187713200-187713600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:187713200-187713800	Flanking Active TSS	NHDF-Ad	bronchial
6	chr2:187713200-187714000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:187713200-187714000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:187713200-187714200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:187713200-187714200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:187713200-187714200	Active TSS	Fetal Brain Male	brain
11	chr2:187713200-187714200	Active TSS	Fetal Brain Female	brain
12	chr2:187713200-187714400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:187713200-187714400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr2:187713200-187714400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:187713200-187714400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:187713200-187714400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:187713200-187714600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:187713200-187714600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:187713200-187714600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:187713200-187714600	Flanking Active TSS	NH-A	brain
21	chr2:187713200-187715200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:187713400-187713600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:187713400-187713600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:187713400-187713600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:187713400-187713600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:187713400-187713600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:187713400-187713600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:187713400-187713600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:187713400-187713600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:187713400-187713600	Enhancers	Adipose Nuclei	Adipose
31	chr2:187713400-187713600	Enhancers	Aorta	Aorta
32	chr2:187713400-187713600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr2:187713400-187713600	Active TSS	Fetal Muscle Trunk	muscle
34	chr2:187713400-187713600	Enhancers	Placenta	Placenta
35	chr2:187713400-187713600	Enhancers	Fetal Thymus	thymus
36	chr2:187713400-187713600	Enhancers	Gastric	stomach
37	chr2:187713400-187713600	Enhancers	Lung	lung
38	chr2:187713400-187713600	Enhancers	Pancreas	Pancrea
39	chr2:187713400-187713600	Active TSS	Right Atrium	heart
40	chr2:187713400-187713600	Enhancers	Right Ventricle	heart
41	chr2:187713400-187713600	Enhancers	Thymus	Thymus
42	chr2:187713400-187713600	Enhancers	A549	lung
43	chr2:187713400-187713600	Enhancers	GM12878-XiMat	blood
44	chr2:187713400-187713600	Bivalent Enhancer	HepG2	liver
45	chr2:187713400-187713600	Active TSS	HSMM	muscle
46	chr2:187713400-187713600	Flanking Active TSS	Osteobl	bone
47	chr2:187713400-187713800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:187713400-187713800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr2:187713400-187713800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:187713400-187713800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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