Variant report

Variant	rs1147713
Chromosome Location	chr3:120180971-120180972
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120176725..120179691-chr3:120180147..120181932,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1123897	0.80[JPT][hapmap]
rs1147708	0.86[ASN][1000 genomes]
rs1147717	0.84[AMR][1000 genomes]
rs1147720	0.89[JPT][hapmap]
rs1259308	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1259311	0.83[JPT][hapmap]
rs1259319	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1259329	0.83[JPT][hapmap]
rs1259333	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1259334	0.80[JPT][hapmap]
rs1259335	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1259336	0.83[JPT][hapmap]
rs1259337	0.80[JPT][hapmap]
rs1259338	0.80[JPT][hapmap]
rs1259339	1.00[JPT][hapmap]
rs1259342	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259457	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12636095	1.00[ASN][1000 genomes]
rs1267675	0.80[JPT][hapmap]
rs1270209	0.82[JPT][hapmap]
rs1716835	0.80[JPT][hapmap]
rs1733319	0.80[JPT][hapmap]
rs1982186	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2252084	0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs874477	0.91[JPT][hapmap]
rs9631455	0.80[JPT][hapmap]

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120178200-120181200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:120178200-120181600	Enhancers	Right Atrium	heart
4	chr3:120178600-120181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:120178600-120181200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:120178800-120181200	Enhancers	Brain Germinal Matrix	brain
7	chr3:120179200-120181000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:120179200-120181400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:120179200-120181800	Enhancers	NHDF-Ad	bronchial
10	chr3:120179800-120182000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:120180000-120181000	Enhancers	Fetal Brain Female	brain
12	chr3:120180000-120181200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:120180000-120182000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:120180000-120182000	Enhancers	Fetal Heart	heart
15	chr3:120180000-120188000	Weak transcription	HSMMtube	muscle
16	chr3:120180200-120181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:120180200-120181000	Enhancers	Brain Angular Gyrus	brain
18	chr3:120180200-120181000	Weak transcription	Placenta	Placenta
19	chr3:120180200-120181200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:120180200-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:120180400-120181200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:120180400-120181400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:120180400-120181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:120180400-120181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:120180400-120181600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:120180400-120181600	Enhancers	Left Ventricle	heart
27	chr3:120180400-120181800	Enhancers	Right Ventricle	heart
28	chr3:120180600-120181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:120180600-120181400	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:120180600-120181400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:120180600-120181400	Enhancers	Brain Hippocampus Middle	brain
32	chr3:120180600-120181600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:120180600-120181600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:120180600-120181600	Enhancers	Spleen	Spleen
35	chr3:120180600-120181800	Enhancers	HUVEC	blood vessel
36	chr3:120180600-120182000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:120180600-120187400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:120180800-120181000	Enhancers	Colon Smooth Muscle	Colon
39	chr3:120180800-120181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:120180800-120181800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:120180800-120182000	Enhancers	Osteobl	bone

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