Variant report

Variant	rs347679
Chromosome Location	chr3:141797347-141797348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11705932	0.87[ASN][1000 genomes]
rs13100252	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13322825	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1704985	0.91[ASN][1000 genomes]
rs1705607	0.91[ASN][1000 genomes]
rs1705614	0.88[ASN][1000 genomes]
rs1912719	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs347685	0.91[ASN][1000 genomes]
rs347686	0.91[ASN][1000 genomes]
rs347687	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs347692	0.83[ASN][1000 genomes]
rs4683421	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5028811	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58573615	0.82[ASN][1000 genomes]
rs62284579	0.88[ASN][1000 genomes]
rs62284582	0.86[ASN][1000 genomes]
rs6773343	0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6789998	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6797841	0.90[ASN][1000 genomes]
rs6798162	0.88[ASN][1000 genomes]
rs6801547	0.80[ASN][1000 genomes]
rs73232681	0.91[ASN][1000 genomes]
rs7611705	0.81[CHB][hapmap]
rs7635444	0.91[ASN][1000 genomes]
rs7644182	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7652340	0.88[ASN][1000 genomes]
rs9810187	0.81[AMR][1000 genomes]
rs9837768	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9857917	0.88[ASN][1000 genomes]
rs9869592	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9877817	0.84[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2757013	chr3:141756541-142094631	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1002123	chr3:141789746-141956778	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv536733	chr3:141789746-141956778	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1004784	chr3:141789746-142070290	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr3:141760600-141800800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:141761000-141807800	Weak transcription	Fetal Lung	lung
3	chr3:141761800-141819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:141763000-141820000	Weak transcription	Pancreas	Pancrea
5	chr3:141763000-141824200	Weak transcription	Aorta	Aorta
6	chr3:141764000-141825600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:141765000-141818800	Weak transcription	Primary B cells from cord blood	blood
8	chr3:141767000-141798000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:141767600-141807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:141774400-141798800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:141776000-141805400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:141789600-141805000	Weak transcription	HepG2	liver
13	chr3:141790400-141801600	Weak transcription	Brain Anterior Caudate	brain
14	chr3:141792800-141800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:141794400-141798600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:141794600-141798800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:141795000-141806000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:141795200-141799200	Weak transcription	Fetal Brain Female	brain
19	chr3:141795400-141835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:141795600-141797600	Enhancers	Placenta	Placenta
21	chr3:141795600-141797600	Genic enhancers	Fetal Thymus	thymus
22	chr3:141795600-141797800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:141795800-141797600	Strong transcription	Ovary	ovary
24	chr3:141795800-141797800	Weak transcription	Gastric	stomach
25	chr3:141795800-141811000	Weak transcription	Esophagus	oesophagus
26	chr3:141796000-141797400	Enhancers	Lung	lung
27	chr3:141796000-141797600	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:141796000-141797600	Strong transcription	Dnd41	blood
29	chr3:141796000-141807400	Weak transcription	Liver	Liver
30	chr3:141796200-141797400	Weak transcription	Adipose Nuclei	Adipose
31	chr3:141796200-141797400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr3:141796200-141797600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:141796200-141797800	Genic enhancers	Thymus	Thymus
34	chr3:141796400-141798000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:141796600-141797600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:141796600-141803600	Weak transcription	Small Intestine	intestine
37	chr3:141796800-141798200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:141797000-141797400	Strong transcription	Fetal Intestine Small	intestine
39	chr3:141797000-141799200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:141797200-141804400	Weak transcription	Fetal Intestine Large	intestine
41	chr3:141797200-141813000	Weak transcription	Fetal Stomach	stomach

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