Variant report

Variant	rs6794727
Chromosome Location	chr3:145797570-145797571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145790919..145792808-chr3:145797460..145800373,2	MCF-7	breast:
2	chr3:145795863..145799081-chr3:145877263..145880316,3	MCF-7	breast:
3	chr3:145795852..145797776-chr3:145810151..145811741,2	K562	blood:

Variant related genes	Relation type
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10935601	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10935602	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10935604	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1170390	0.84[EUR][1000 genomes]
rs11717610	0.81[EUR][1000 genomes]
rs12492656	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13087364	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13088180	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1375580	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1375591	0.84[EUR][1000 genomes]
rs1449443	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1449446	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16857897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16857919	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1982382	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3762694	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792340	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3792345	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804663	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804667	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4611785	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4681293	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4681297	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56686359	0.81[EUR][1000 genomes]
rs6771106	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771118	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6775684	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6781300	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6783926	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6792464	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7613150	0.82[EUR][1000 genomes]
rs7642940	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9820945	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9836725	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9869137	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv525829	chr3:145614317-145863779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv4046	chr3:145693249-145880189	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145777000-145819400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:145778200-145817200	Weak transcription	Fetal Stomach	stomach
3	chr3:145779600-145820600	Weak transcription	Fetal Kidney	kidney
4	chr3:145780000-145815600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:145780600-145820400	Weak transcription	Placenta	Placenta
6	chr3:145780800-145819800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:145781800-145831800	Weak transcription	Psoas Muscle	Psoas
8	chr3:145782800-145843200	Weak transcription	Pancreas	Pancrea
9	chr3:145784000-145811800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:145784600-145848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:145785200-145806400	Weak transcription	Colonic Mucosa	Colon
12	chr3:145785200-145819400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:145785600-145798600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:145787000-145807200	Weak transcription	Fetal Lung	lung
15	chr3:145787200-145798400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:145787600-145798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:145789200-145830800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:145789800-145811000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:145790000-145808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:145790000-145819800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:145790200-145798000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:145790200-145818600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:145790200-145819400	Weak transcription	Left Ventricle	heart
24	chr3:145790400-145843200	Weak transcription	Right Ventricle	heart
25	chr3:145791600-145833800	Weak transcription	NHDF-Ad	bronchial
26	chr3:145792200-145812200	Strong transcription	HSMM	muscle
27	chr3:145792600-145803600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:145793000-145799800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr3:145793600-145799000	Strong transcription	HepG2	liver
30	chr3:145794000-145799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:145794200-145797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:145794200-145798400	Weak transcription	Brain Anterior Caudate	brain
33	chr3:145794400-145797600	Weak transcription	HSMMtube	muscle
34	chr3:145794400-145798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:145794400-145803600	Weak transcription	Fetal Heart	heart
36	chr3:145794400-145808000	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:145794400-145810000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:145794400-145811000	Weak transcription	Adipose Nuclei	Adipose
39	chr3:145794400-145815600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:145794400-145818200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:145794400-145818800	Weak transcription	Ovary	ovary
42	chr3:145794400-145827000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:145794400-145828000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:145794600-145819200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:145795600-145806600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:145795800-145798800	Strong transcription	Liver	Liver
47	chr3:145795800-145805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:145796000-145797600	Strong transcription	NH-A	brain
49	chr3:145796000-145798000	Strong transcription	HMEC	breast
50	chr3:145796000-145801000	Strong transcription	Osteobl	bone

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