Variant report

Variant	rs13393057
Chromosome Location	chr2:189464910-189464911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189464505..189467171-chr2:189493961..189496240,2	MCF-7	breast:
2	chr2:189461232..189465911-chr2:189467782..189472229,8	MCF-7	breast:
3	chr2:189451828..189455201-chr2:189463415..189466933,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10153688	0.85[EUR][1000 genomes]
rs10153871	0.96[EUR][1000 genomes]
rs10172178	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10173411	0.85[EUR][1000 genomes]
rs10185750	0.85[EUR][1000 genomes]
rs10199260	1.00[JPT][hapmap]
rs10203054	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];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];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902664	0.85[EUR][1000 genomes]
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]
rs13396968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];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	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];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	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];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]
rs1507551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];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	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];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	0.81[AMR][1000 genomes];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]
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];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs9752583	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:189450400-189470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
4	chr2:189459000-189465400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:189460000-189465400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:189461800-189470600	Weak transcription	Placenta	Placenta
7	chr2:189462000-189465200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:189462800-189468200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189463000-189466400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:189463000-189467600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:189463200-189465200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:189463200-189466800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:189463400-189465000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:189463400-189465200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:189463400-189465400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:189463400-189465600	Enhancers	HSMM	muscle
17	chr2:189463400-189466400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:189463400-189466400	Enhancers	HSMMtube	muscle
19	chr2:189463600-189465400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:189464000-189465600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:189464000-189465800	Enhancers	NH-A	brain
22	chr2:189464000-189466400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:189464000-189466600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:189464200-189465000	Weak transcription	NHLF	lung
25	chr2:189464200-189465000	Weak transcription	Osteobl	bone
26	chr2:189464200-189465200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:189464200-189465200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:189464200-189465200	Enhancers	A549	lung
29	chr2:189464200-189475400	Weak transcription	Right Atrium	heart
30	chr2:189464400-189465600	Enhancers	NHDF-Ad	bronchial
31	chr2:189464400-189474400	Weak transcription	Fetal Lung	lung
32	chr2:189464600-189466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:189464600-189466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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