Variant report

Variant	rs1147693
Chromosome Location	chr3:120112484-120112485
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1056928	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147696	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147698	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147699	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259328	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13709	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1515577	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969356	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030414	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676778	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676779	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869247	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9880550	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised 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	24 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120090600-120112600	Weak transcription	Aorta	Aorta
2	chr3:120096800-120112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:120103600-120113400	Weak transcription	Right Ventricle	heart
4	chr3:120107000-120112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:120107000-120114000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:120107000-120115200	Weak transcription	Spleen	Spleen
7	chr3:120107000-120118200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:120107200-120113200	Weak transcription	HUVEC	blood vessel
9	chr3:120108000-120112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:120110000-120112600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:120110000-120112600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:120110000-120118200	Weak transcription	Esophagus	oesophagus
13	chr3:120110600-120113200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:120110800-120112600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:120111000-120112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:120111000-120112600	Weak transcription	Fetal Stomach	stomach
17	chr3:120111000-120112600	Weak transcription	Ovary	ovary
18	chr3:120111000-120112800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:120111000-120112800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:120111000-120112800	Weak transcription	Fetal Lung	lung
21	chr3:120111000-120113200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:120111000-120113200	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:120111000-120114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:120111200-120112800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:120111200-120112800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:120111200-120113000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:120111200-120113200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:120111200-120113400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:120111200-120113400	Weak transcription	Brain Angular Gyrus	brain
30	chr3:120111400-120113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:120111400-120115200	Weak transcription	A549	lung
32	chr3:120111400-120115400	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:120111600-120113200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:120111600-120113200	Weak transcription	HMEC	breast
35	chr3:120111600-120113400	Weak transcription	Lung	lung
36	chr3:120111600-120114000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:120111600-120114800	Weak transcription	Fetal Intestine Small	intestine
38	chr3:120111800-120113400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:120111800-120113400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:120111800-120113400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:120111800-120113400	Weak transcription	Liver	Liver
42	chr3:120111800-120113400	Weak transcription	Placenta	Placenta
43	chr3:120111800-120115200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:120112000-120113600	Weak transcription	Brain Anterior Caudate	brain
45	chr3:120112000-120114600	Weak transcription	Fetal Brain Female	brain
46	chr3:120112000-120115400	Weak transcription	Brain Germinal Matrix	brain
47	chr3:120112000-120123600	Strong transcription	Osteobl	bone
48	chr3:120112000-120123800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:120112000-120132600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr3:120112200-120113800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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