Variant report

Variant	rs12718062
Chromosome Location	chr3:196358717-196358718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196357999..196359760-chr3:196438911..196440805,2	MCF-7	breast:
2	chr3:196342656..196345051-chr3:196357362..196359188,2	K562	blood:
3	chr3:196357928..196360475-chr3:196466661..196469415,2	MCF-7	breast:
4	chr3:196358141..196359995-chr3:196466312..196469070,3	K562	blood:
5	chr3:196321228..196324208-chr3:196356840..196359377,2	K562	blood:
6	chr3:196356860..196359000-chr3:196386033..196388498,2	K562	blood:
7	chr3:196250394..196252273-chr3:196357223..196359043,2	K562	blood:
8	chr3:196292826..196295435-chr3:196358532..196360090,2	K562	blood:
9	chr3:196332639..196334602-chr3:196356854..196359428,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180370	Chromatin interaction
ENSG00000174007	Chromatin interaction
ENSG00000163964	Chromatin interaction
ENSG00000185798	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12718061	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1385331	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34088166	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34515026	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3964454	0.98[ASN][1000 genomes]
rs6583331	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6799977	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6807839	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7614184	0.89[ASN][1000 genomes]

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	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
2	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196351400-196358800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:196352000-196358800	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:196352400-196358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:196355200-196358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:196355200-196358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:196356600-196358800	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:196357800-196359200	Flanking Active TSS	Dnd41	blood
8	chr3:196358000-196358800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:196358200-196359000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr3:196358200-196359000	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr3:196358200-196359000	Enhancers	Spleen	Spleen
12	chr3:196358200-196359000	Flanking Active TSS	K562	blood
13	chr3:196358200-196359000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:196358200-196359200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:196358200-196359400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr3:196358400-196358800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:196358400-196358800	Flanking Active TSS	Fetal Brain Male	brain
18	chr3:196358400-196358800	Flanking Active TSS	Fetal Heart	heart
19	chr3:196358400-196358800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr3:196358400-196358800	Flanking Active TSS	Thymus	Thymus
21	chr3:196358400-196359000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:196358400-196359000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr3:196358400-196359000	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:196358400-196359200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:196358400-196359200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr3:196358400-196359200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr3:196358400-196359200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr3:196358400-196359200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr3:196358400-196359200	Flanking Active TSS	Fetal Thymus	thymus
30	chr3:196358400-196359200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr3:196358400-196359200	Flanking Active TSS	Hela-S3	cervix
32	chr3:196358400-196359200	Flanking Active TSS	NHEK	skin
33	chr3:196358400-196359400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr3:196358400-196359400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr3:196358400-196360200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr3:196358400-196360200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:196358400-196360200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr3:196358400-196360200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:196358600-196358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:196358600-196358800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:196358600-196358800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:196358600-196358800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:196358600-196358800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:196358600-196358800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:196358600-196358800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:196358600-196358800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:196358600-196358800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:196358600-196358800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:196358600-196358800	Enhancers	Liver	Liver
50	chr3:196358600-196358800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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