Variant report

Variant	rs1147715
Chromosome Location	chr3:120188028-120188029
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120181379..120183324-chr3:120187203..120188859,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1123897	0.84[CHB][hapmap]
rs1147709	0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1147710	0.84[ASN][1000 genomes]
rs1147712	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147716	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147718	0.96[ASN][1000 genomes]
rs1147722	0.82[ASN][1000 genomes]
rs1259309	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259311	0.85[CHB][hapmap]
rs1259312	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259315	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1259318	0.85[CHB][hapmap]
rs1259329	0.85[CHB][hapmap]
rs1259331	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1259332	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1259334	0.84[CHB][hapmap]
rs1259336	0.85[CHB][hapmap]
rs1259337	0.84[CHB][hapmap]
rs1259338	0.84[CHB][hapmap]
rs1259456	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259471	0.84[ASN][1000 genomes]
rs1259472	0.84[ASN][1000 genomes]
rs1259473	0.84[ASN][1000 genomes]
rs1262395	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267675	0.84[CHB][hapmap]
rs1267693	0.88[ASN][1000 genomes]
rs1270209	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs1272257	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520881	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1716835	0.84[CHB][hapmap]
rs1733296	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1733299	0.82[CEU][hapmap]
rs1733301	0.81[ASN][1000 genomes]
rs1733303	0.81[ASN][1000 genomes]
rs1733304	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1733306	0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1733307	0.81[ASN][1000 genomes]
rs1733319	0.84[CHB][hapmap]
rs2700262	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702155	0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs5000757	0.82[ASN][1000 genomes]
rs735138	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874478	0.81[ASN][1000 genomes]
rs874479	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs9631455	0.84[CHB][hapmap]
rs988924	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 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	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120181200-120188600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:120181600-120189800	Weak transcription	Left Ventricle	heart
4	chr3:120182000-120188200	Weak transcription	Osteobl	bone
5	chr3:120186000-120195000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:120186600-120188800	Weak transcription	Adipose Nuclei	Adipose
7	chr3:120186600-120193800	Enhancers	NHDF-Ad	bronchial
8	chr3:120186600-120195000	Enhancers	Placenta	Placenta
9	chr3:120186800-120189400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:120186800-120191200	Enhancers	Fetal Heart	heart
11	chr3:120187000-120188200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:120187000-120191000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:120187200-120190000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:120187400-120188400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:120187400-120188600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:120187400-120188600	Enhancers	NHEK	skin
17	chr3:120187400-120190200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:120187400-120191000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:120187400-120191000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:120187400-120191400	Enhancers	HMEC	breast
21	chr3:120187400-120193200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:120187400-120193800	Enhancers	HSMM	muscle
23	chr3:120187600-120188200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:120187600-120188600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr3:120187600-120189200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:120187600-120189400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:120187600-120190000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:120187600-120190000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:120187600-120190600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:120187600-120191000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:120187800-120188400	Enhancers	Pancreas	Pancrea
32	chr3:120187800-120188600	Enhancers	Right Atrium	heart
33	chr3:120187800-120190000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr3:120187800-120190000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:120187800-120190200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:120187800-120191400	Enhancers	NH-A	brain
37	chr3:120187800-120193600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:120187800-120193800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:120188000-120188200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:120188000-120188400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:120188000-120188600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:120188000-120188600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:120188000-120188600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:120188000-120189000	Enhancers	HSMMtube	muscle
45	chr3:120188000-120189200	Enhancers	Esophagus	oesophagus
46	chr3:120188000-120190000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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