Variant report

Variant	rs1147712
Chromosome Location	chr3:120180650-120180651
allele	C/T
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: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1147709	0.84[ASN][1000 genomes]
rs1147710	0.84[ASN][1000 genomes]
rs1147714	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147715	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147716	1.00[ASN][1000 genomes]
rs1147718	0.96[ASN][1000 genomes]
rs1147722	0.82[ASN][1000 genomes]
rs1259309	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259312	1.00[ASN][1000 genomes]
rs1259315	0.82[ASN][1000 genomes]
rs1259331	0.82[ASN][1000 genomes]
rs1259332	0.82[ASN][1000 genomes]
rs1259456	0.81[AMR][1000 genomes];0.82[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	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267693	0.88[ASN][1000 genomes]
rs1270209	0.85[EUR][1000 genomes]
rs1272257	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520881	0.81[ASN][1000 genomes]
rs1733301	0.81[ASN][1000 genomes]
rs1733303	0.81[ASN][1000 genomes]
rs1733304	0.81[ASN][1000 genomes]
rs1733306	0.81[ASN][1000 genomes]
rs1733307	0.81[ASN][1000 genomes]
rs2700262	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702155	0.85[ASN][1000 genomes]
rs5000757	0.82[ASN][1000 genomes]
rs735138	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874478	0.81[ASN][1000 genomes]
rs874479	0.81[ASN][1000 genomes]
rs988924	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120178200-120180800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:120178200-120180800	Enhancers	NHLF	lung
4	chr3:120178200-120181200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:120178200-120181600	Enhancers	Right Atrium	heart
6	chr3:120178600-120181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:120178600-120181200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:120178800-120180800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:120178800-120181200	Enhancers	Brain Germinal Matrix	brain
10	chr3:120179000-120180800	Enhancers	Fetal Brain Male	brain
11	chr3:120179200-120180800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:120179200-120181000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:120179200-120181400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:120179200-120181800	Enhancers	NHDF-Ad	bronchial
15	chr3:120179800-120180800	Enhancers	Brain Anterior Caudate	brain
16	chr3:120179800-120180800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:120179800-120182000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:120180000-120181000	Enhancers	Fetal Brain Female	brain
19	chr3:120180000-120181200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:120180000-120182000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:120180000-120182000	Enhancers	Fetal Heart	heart
22	chr3:120180000-120188000	Weak transcription	HSMMtube	muscle
23	chr3:120180200-120180800	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:120180200-120180800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr3:120180200-120181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:120180200-120181000	Enhancers	Brain Angular Gyrus	brain
27	chr3:120180200-120181000	Weak transcription	Placenta	Placenta
28	chr3:120180200-120181200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:120180200-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:120180400-120180800	Flanking Active TSS	Osteobl	bone
31	chr3:120180400-120181200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:120180400-120181400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:120180400-120181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:120180400-120181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:120180400-120181600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:120180400-120181600	Enhancers	Left Ventricle	heart
37	chr3:120180400-120181800	Enhancers	Right Ventricle	heart
38	chr3:120180600-120180800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:120180600-120180800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:120180600-120181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:120180600-120181400	Enhancers	Primary hematopoietic stem cells	blood
42	chr3:120180600-120181400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr3:120180600-120181400	Enhancers	Brain Hippocampus Middle	brain
44	chr3:120180600-120181600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:120180600-120181600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:120180600-120181600	Enhancers	Spleen	Spleen
47	chr3:120180600-120181800	Enhancers	HUVEC	blood vessel
48	chr3:120180600-120182000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr3:120180600-120187400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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