Variant report

Variant	rs1272257
Chromosome Location	chr3:120216892-120216893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1147709	0.95[JPT][hapmap]
rs1147712	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1147714	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1147715	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1147716	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1147718	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1147722	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147727	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1259309	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1259312	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1259315	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259318	0.81[CHB][hapmap]
rs1259331	0.95[JPT][hapmap]
rs1259332	0.95[JPT][hapmap]
rs1259456	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1262395	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520881	0.95[JPT][hapmap]
rs1733296	0.95[JPT][hapmap]
rs1733304	0.95[JPT][hapmap]
rs1733306	0.95[JPT][hapmap]
rs2700262	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2702155	0.95[JPT][hapmap]
rs735138	0.81[ASN][1000 genomes]
rs874479	0.95[JPT][hapmap]
rs988924	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120213600-120217200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:120214600-120218400	Enhancers	Rectal Smooth Muscle	rectum
3	chr3:120214600-120218400	Enhancers	HUVEC	blood vessel
4	chr3:120214800-120217600	Enhancers	Colon Smooth Muscle	Colon
5	chr3:120214800-120217800	Enhancers	Fetal Stomach	stomach
6	chr3:120214800-120218400	Enhancers	Hela-S3	cervix
7	chr3:120214800-120218600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:120214800-120218800	Enhancers	NHLF	lung
9	chr3:120215200-120218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:120215200-120218200	Enhancers	HMEC	breast
11	chr3:120215200-120218400	Enhancers	Fetal Kidney	kidney
12	chr3:120215400-120217000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:120215400-120217000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:120215400-120218200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:120215400-120218400	Enhancers	HSMM	muscle
16	chr3:120215600-120217600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:120215600-120217800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:120215600-120217800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr3:120215600-120219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:120215800-120217600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:120215800-120217600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:120215800-120217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:120216000-120217000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:120216000-120218800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:120216200-120217000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:120216200-120217800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:120216200-120218600	Enhancers	NHDF-Ad	bronchial
28	chr3:120216200-120218800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:120216400-120217600	Weak transcription	Fetal Lung	lung
30	chr3:120216400-120217600	Weak transcription	A549	lung
31	chr3:120216400-120218200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr3:120216400-120218400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:120216400-120218600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:120216400-120219800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:120216400-120219800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:120216600-120217600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:120216600-120218400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:120216800-120217000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:120216800-120217000	Enhancers	Aorta	Aorta
40	chr3:120216800-120217000	Enhancers	Fetal Muscle Leg	muscle
41	chr3:120216800-120217000	Flanking Active TSS	NH-A	brain
42	chr3:120216800-120217000	Flanking Active TSS	Osteobl	bone
43	chr3:120216800-120217400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:120216800-120218000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:120216800-120218000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:120216800-120218000	Weak transcription	Fetal Heart	heart
47	chr3:120216800-120218000	Enhancers	HSMMtube	muscle
48	chr3:120216800-120218400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:120216800-120219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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