Variant report

Variant	rs9831543
Chromosome Location	chr3:178768011-178768012
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1542	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4325967	0.85[ASN][1000 genomes]
rs4469018	0.83[ASN][1000 genomes]
rs4579062	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4607155	0.83[ASN][1000 genomes]
rs4632588	0.80[ASN][1000 genomes]
rs4637331	0.84[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4955807	0.84[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4955810	0.84[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6772028	0.84[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6790867	0.84[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6793893	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6794956	0.83[ASN][1000 genomes]
rs6795238	0.83[ASN][1000 genomes]
rs6800015	0.82[JPT][hapmap]
rs6804084	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs7633318	0.82[CEU][hapmap]
rs7639391	0.84[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs9835765	0.83[ASN][1000 genomes]
rs9860318	0.80[ASN][1000 genomes]
rs9860749	0.80[ASN][1000 genomes]
rs9878734	0.80[ASN][1000 genomes]
rs9880749	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1009143	chr3:178731525-178783915	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv1799481	chr3:178733212-178782021	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178745600-178771800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr3:178746000-178784000	Weak transcription	Liver	Liver
3	chr3:178746000-178785200	Weak transcription	Thymus	Thymus
4	chr3:178753600-178784800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:178755600-178787800	Weak transcription	Aorta	Aorta
6	chr3:178756000-178775600	Weak transcription	Adipose Nuclei	Adipose
7	chr3:178756000-178780400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:178756000-178783600	Weak transcription	NHDF-Ad	bronchial
9	chr3:178756600-178771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:178756600-178781600	Weak transcription	HMEC	breast
11	chr3:178756600-178781800	Weak transcription	NHLF	lung
12	chr3:178756600-178783800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:178756800-178788400	Weak transcription	Fetal Intestine Small	intestine
14	chr3:178756800-178788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:178757200-178782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:178764200-178781800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:178764200-178787000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:178764400-178775200	Weak transcription	Fetal Thymus	thymus
19	chr3:178764400-178780400	Weak transcription	HepG2	liver
20	chr3:178764400-178784600	Weak transcription	K562	blood
21	chr3:178764600-178771400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:178764600-178772400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:178764600-178780600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:178764600-178782400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:178764800-178772400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:178764800-178775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:178764800-178785200	Weak transcription	Pancreas	Pancrea
28	chr3:178764800-178787200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:178764800-178789000	Weak transcription	Lung	lung
30	chr3:178765000-178771400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:178765000-178771600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:178765000-178772400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:178765000-178772600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:178765000-178779800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:178765000-178785400	Weak transcription	Gastric	stomach
36	chr3:178765000-178786800	Weak transcription	Dnd41	blood
37	chr3:178765200-178769000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:178765200-178769200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:178765200-178769200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:178765200-178770000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:178765200-178771400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:178765200-178772000	Weak transcription	Left Ventricle	heart
43	chr3:178765200-178773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:178765200-178774600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:178765200-178775000	Weak transcription	NH-A	brain
46	chr3:178765200-178780200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:178765200-178781600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:178765200-178781600	Weak transcription	HSMMtube	muscle
49	chr3:178765200-178784600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:178765200-178789000	Weak transcription	Spleen	Spleen

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