Variant report

Variant	rs1507551
Chromosome Location	chr2:189453867-189453868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10153688	0.85[EUR][1000 genomes]
rs10153871	0.96[EUR][1000 genomes]
rs10172178	1.00[EUR][1000 genomes]
rs10173411	0.85[EUR][1000 genomes]
rs10185750	0.85[EUR][1000 genomes]
rs10199260	1.00[JPT][hapmap]
rs10203054	1.00[EUR][1000 genomes]
rs10804021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10931357	1.00[CEU][hapmap]
rs10931363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10931369	1.00[ASN][1000 genomes]
rs11679949	1.00[CEU][hapmap]
rs11683909	1.00[CEU][hapmap]
rs11683969	1.00[CEU][hapmap]
rs11685238	0.85[EUR][1000 genomes]
rs11685643	1.00[CEU][hapmap]
rs11693105	1.00[CEU][hapmap]
rs11695177	1.00[CEU][hapmap]
rs11695316	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902664	0.85[EUR][1000 genomes]
rs12151605	1.00[CEU][hapmap]
rs12463744	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12475894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12476413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12997039	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13012993	1.00[ASN][1000 genomes]
rs13025659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13386581	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13392850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13393057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13397653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13412448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413644	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413752	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13418031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13424809	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1354902	1.00[JPT][hapmap]
rs1354904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1354910	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1567184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1580993	1.00[ASN][1000 genomes]
rs1807235	1.00[EUR][1000 genomes]
rs4453658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4577225	1.00[EUR][1000 genomes]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs55663622	0.85[EUR][1000 genomes]
rs61045757	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6414119	0.85[EUR][1000 genomes]
rs6434285	0.85[EUR][1000 genomes]
rs6434286	0.89[EUR][1000 genomes]
rs66641143	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6707212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6722940	0.81[EUR][1000 genomes]
rs6727633	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67425558	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6744275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6756504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs698553	0.85[EUR][1000 genomes]
rs7419798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7420808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7421510	1.00[CEU][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7423329	1.00[CEU][hapmap]
rs7423554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7568147	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7569960	0.80[AMR][1000 genomes]
rs7579593	1.00[CEU][hapmap]
rs7582643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7587596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7596299	1.00[ASN][1000 genomes]
rs7602180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs781261	1.00[CHB][hapmap]
rs8273	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9752583	0.80[EUR][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:189426600-189456200	Weak transcription	Gastric	stomach
4	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:189433600-189456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
7	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
8	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:189436400-189463200	Weak transcription	Ovary	ovary
10	chr2:189437000-189454400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:189443800-189464000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:189445800-189460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:189445800-189463400	Weak transcription	NHLF	lung
14	chr2:189446200-189461000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:189448600-189459800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:189450200-189456200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:189450200-189459400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:189450200-189463800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:189450400-189455400	Weak transcription	Pancreas	Pancrea
20	chr2:189450400-189456400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:189450400-189456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:189450400-189462000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:189450400-189463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:189450400-189470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
26	chr2:189450600-189456800	Weak transcription	Fetal Intestine Small	intestine
27	chr2:189450600-189458400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:189450600-189459400	Weak transcription	Fetal Stomach	stomach
29	chr2:189450600-189459600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:189450600-189461400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:189450600-189463400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:189450600-189463400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:189450600-189463800	Weak transcription	Fetal Lung	lung
34	chr2:189450600-189464000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:189450600-189464000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:189450800-189460800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:189452000-189454000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:189452000-189456200	Strong transcription	Placenta	Placenta
39	chr2:189452800-189454600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:189452800-189463200	Weak transcription	A549	lung
41	chr2:189453400-189460400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:189453600-189454400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:189453600-189455200	Strong transcription	HUVEC	blood vessel
44	chr2:189453600-189460400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:189453600-189463000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:189453600-189463400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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