Variant report

Variant	rs6443617
Chromosome Location	chr3:178758534-178758535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11711320	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11720081	0.80[EUR][1000 genomes]
rs4245914	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4279147	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4280676	0.80[EUR][1000 genomes]
rs4315724	0.80[EUR][1000 genomes]
rs4337680	0.80[EUR][1000 genomes]
rs4377525	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4395442	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4417911	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4425305	0.83[ASN][1000 genomes]
rs4469018	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4501160	0.80[EUR][1000 genomes]
rs4505756	0.80[EUR][1000 genomes]
rs4552405	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4579062	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4607155	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4626139	0.80[EUR][1000 genomes]
rs4632588	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4637331	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4955796	0.80[EUR][1000 genomes]
rs4955807	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4955810	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56115013	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6443614	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6443618	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6772028	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6784495	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6790867	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6793769	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6793893	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6794165	0.84[AMR][1000 genomes]
rs6794956	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6795238	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800015	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7429173	0.80[EUR][1000 genomes]
rs7612363	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7639391	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651510	0.80[EUR][1000 genomes]
rs7652946	0.80[EUR][1000 genomes]
rs9830482	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9835752	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9835765	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9846511	0.82[AMR][1000 genomes]
rs9860318	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9860749	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9878734	0.92[ASN][1000 genomes]
rs9879637	0.80[EUR][1000 genomes]
rs9880749	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178735000-178763800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:178738000-178764000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:178745600-178771800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:178746000-178784000	Weak transcription	Liver	Liver
5	chr3:178746000-178785200	Weak transcription	Thymus	Thymus
6	chr3:178751800-178764200	Weak transcription	Gastric	stomach
7	chr3:178753600-178784800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:178755600-178787800	Weak transcription	Aorta	Aorta
9	chr3:178756000-178759800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:178756000-178763800	Weak transcription	Left Ventricle	heart
11	chr3:178756000-178764000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:178756000-178775600	Weak transcription	Adipose Nuclei	Adipose
13	chr3:178756000-178780400	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:178756000-178783600	Weak transcription	NHDF-Ad	bronchial
15	chr3:178756200-178761600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:178756400-178762800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:178756600-178762000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:178756600-178763600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:178756600-178764200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:178756600-178764200	Weak transcription	Pancreas	Pancrea
21	chr3:178756600-178771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:178756600-178781600	Weak transcription	HMEC	breast
23	chr3:178756600-178781800	Weak transcription	NHLF	lung
24	chr3:178756600-178783800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:178756800-178763600	Weak transcription	Osteobl	bone
26	chr3:178756800-178788400	Weak transcription	Fetal Intestine Small	intestine
27	chr3:178756800-178788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:178757000-178763000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:178757000-178763600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:178757000-178764200	Weak transcription	Lung	lung
31	chr3:178757200-178761600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:178757200-178762200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:178757200-178762200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr3:178757200-178762800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:178757200-178762800	Weak transcription	HSMM	muscle
36	chr3:178757200-178763000	Weak transcription	HSMMtube	muscle
37	chr3:178757200-178763600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:178757200-178763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr3:178757200-178763800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:178757200-178764000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:178757200-178764000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:178757200-178764000	Weak transcription	Dnd41	blood
43	chr3:178757200-178764200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:178757200-178764200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:178757200-178764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:178757200-178765000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:178757200-178782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:178757400-178762800	Weak transcription	GM12878-XiMat	blood
49	chr3:178757400-178763400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:178757400-178764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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