Variant report

Variant	rs13080178
Chromosome Location	chr3:146265179-146265180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146261118..146264072-chr3:146264096..146268231,4	K562	blood:

Variant related genes	Relation type
ENSG00000188313	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1061307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1079369	0.89[CHB][hapmap]
rs13064509	0.89[CHB][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs13069082	0.89[CHB][hapmap]
rs13099587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997601	0.88[CHB][hapmap]
rs34009190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34598718	0.85[ASN][1000 genomes]
rs35766154	0.94[ASN][1000 genomes]
rs3773521	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs60601385	0.85[ASN][1000 genomes]
rs66639703	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6799809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625626	0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647634	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9850802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9861142	0.89[CHB][hapmap]
rs9876886	0.89[CHB][hapmap]
rs9880682	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9883058	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014493	chr3:146255594-146288414	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146262800-146267600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:146262800-146268600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:146263000-146267800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr3:146263200-146265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:146263200-146265600	Enhancers	HMEC	breast
6	chr3:146263200-146267000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:146263200-146267000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:146263200-146267200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:146263200-146267400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:146263200-146267400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:146263200-146267400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:146263200-146267400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:146263200-146267600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:146263200-146267600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:146263200-146267600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:146263200-146267600	Weak transcription	Liver	Liver
17	chr3:146263200-146267800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:146263200-146268000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:146263200-146268000	Weak transcription	Osteobl	bone
20	chr3:146263200-146268200	Weak transcription	A549	lung
21	chr3:146263200-146268800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:146263200-146268800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:146263200-146270800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:146263400-146265200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:146263400-146265200	Enhancers	NHEK	skin
26	chr3:146263400-146267400	Weak transcription	Dnd41	blood
27	chr3:146263400-146267600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:146263400-146267600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr3:146263400-146267600	Weak transcription	Primary B cells from cord blood	blood
30	chr3:146263400-146267600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:146263400-146267600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:146263400-146267800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:146263400-146267800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:146263400-146267800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:146263400-146267800	Weak transcription	NHDF-Ad	bronchial
36	chr3:146263400-146268600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:146263600-146267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:146263600-146267600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr3:146263800-146267600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:146263800-146267800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:146263800-146267800	Weak transcription	NHLF	lung
42	chr3:146263800-146271800	Weak transcription	K562	blood
43	chr3:146264000-146265600	Enhancers	HepG2	liver
44	chr3:146264000-146267200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:146264600-146265200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr3:146265000-146267800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:146265000-146268600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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