Variant report

Variant	rs7613066
Chromosome Location	chr3:134085370-134085371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134083001..134085504-chr3:134191468..134193210,2	MCF-7	breast:
2	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
3	chr3:134081380..134086335-chr3:134201546..134208103,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240006	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000182923	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10755085	0.89[ASN][1000 genomes]
rs10755086	0.89[ASN][1000 genomes]
rs1111516	0.90[ASN][1000 genomes]
rs11708815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719057	0.90[ASN][1000 genomes]
rs12495847	0.85[ASN][1000 genomes]
rs12496438	0.89[ASN][1000 genomes]
rs13075185	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13322269	0.85[ASN][1000 genomes]
rs1353776	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1353777	0.85[ASN][1000 genomes]
rs1353778	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1466827	0.95[ASN][1000 genomes]
rs1498731	0.90[ASN][1000 genomes]
rs1603824	0.90[ASN][1000 genomes]
rs1863910	0.85[ASN][1000 genomes]
rs2133307	0.90[ASN][1000 genomes]
rs2400278	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2400279	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2400280	0.83[ASN][1000 genomes]
rs34341902	0.90[ASN][1000 genomes]
rs35951257	0.90[ASN][1000 genomes]
rs3732852	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3755762	0.89[ASN][1000 genomes]
rs3773820	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821705	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4264700	0.86[ASN][1000 genomes]
rs4974485	0.90[ASN][1000 genomes]
rs4974489	0.86[ASN][1000 genomes]
rs4974491	0.86[ASN][1000 genomes]
rs4974494	0.90[ASN][1000 genomes]
rs4974495	0.90[ASN][1000 genomes]
rs4974496	0.88[ASN][1000 genomes]
rs4974497	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4974498	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6439477	0.90[ASN][1000 genomes]
rs6439478	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6786148	0.86[ASN][1000 genomes]
rs9450	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9817900	0.86[ASN][1000 genomes]
rs9853621	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7613066	RP11-375I20.6	cis	Artery Tibial	GTEx
rs7613066	RP11-375I20.6	cis	Esophagus Muscularis	GTEx
rs7613066	RP11-375I20.6	cis	Nerve Tibial	GTEx
rs7613066	RP11-375I20.6	cis	Skin Sun Exposed Lower leg	GTEx
rs7613066	RP11-375I20.6	cis	Thyroid	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134069200-134090000	Genic enhancers	Fetal Muscle Trunk	muscle
2	chr3:134069400-134089800	Genic enhancers	Fetal Muscle Leg	muscle
3	chr3:134070400-134088200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:134071000-134088800	Enhancers	Right Atrium	heart
5	chr3:134072200-134090200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:134072400-134091200	Genic enhancers	Spleen	Spleen
7	chr3:134072800-134090600	Genic enhancers	Left Ventricle	heart
8	chr3:134073000-134089400	Genic enhancers	HMEC	breast
9	chr3:134073400-134091400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:134074400-134089400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:134075000-134090400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:134076800-134088600	Genic enhancers	NHDF-Ad	bronchial
13	chr3:134077600-134088000	Genic enhancers	NH-A	brain
14	chr3:134078800-134090400	Genic enhancers	Liver	Liver
15	chr3:134079400-134089600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:134081400-134090600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:134081600-134091000	Enhancers	Psoas Muscle	Psoas
18	chr3:134082000-134086800	Genic enhancers	Fetal Lung	lung
19	chr3:134082000-134089800	Genic enhancers	Placenta Amnion	Placenta Amnion
20	chr3:134082000-134090800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:134082000-134090800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:134082000-134091000	Genic enhancers	Fetal Stomach	stomach
23	chr3:134082200-134090200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:134082200-134092800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:134082400-134091400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:134082800-134088000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:134083000-134087200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:134083000-134087800	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr3:134083000-134088400	Genic enhancers	Right Ventricle	heart
30	chr3:134083000-134088600	Genic enhancers	NHLF	lung
31	chr3:134083000-134089400	Genic enhancers	Colon Smooth Muscle	Colon
32	chr3:134083200-134089600	Genic enhancers	Placenta	Placenta
33	chr3:134083400-134089200	Genic enhancers	NHEK	skin
34	chr3:134083600-134085400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:134083600-134085400	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
36	chr3:134083600-134085800	Genic enhancers	Fetal Intestine Small	intestine
37	chr3:134083600-134087800	Genic enhancers	Osteobl	bone
38	chr3:134083600-134089000	Genic enhancers	HSMMtube	muscle
39	chr3:134083600-134089800	Genic enhancers	Brain Angular Gyrus	brain
40	chr3:134083600-134090000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:134083600-134090800	Genic enhancers	Fetal Intestine Large	intestine
42	chr3:134083800-134086400	Genic enhancers	Rectal Smooth Muscle	rectum
43	chr3:134083800-134086600	Genic enhancers	H1 Cell Line	embryonic stem cell
44	chr3:134083800-134086600	Genic enhancers	Colonic Mucosa	Colon
45	chr3:134083800-134087000	Genic enhancers	HUVEC	blood vessel
46	chr3:134083800-134087600	Genic enhancers	Adipose Nuclei	Adipose
47	chr3:134083800-134087800	Genic enhancers	HSMM	muscle
48	chr3:134083800-134088000	Genic enhancers	Gastric	stomach
49	chr3:134083800-134088400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:134083800-134088800	Genic enhancers	Brain Inferior Temporal Lobe	brain

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