Variant report

Variant	rs4510358
Chromosome Location	chr3:134036420-134036421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134024378..134037377-chr3:134063304..134080412,83	MCF-7	breast:
2	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
3	chr3:134034717..134037202-chr3:134054056..134056170,2	MCF-7	breast:
4	chr3:134036155..134038646-chr3:134200458..134202450,2	K562	blood:

Variant related genes	Relation type
ENSG00000114019	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000214289	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13094988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1344687	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270733	0.95[ASN][1000 genomes]
rs2400273	1.00[JPT][hapmap]
rs34426406	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34591691	0.97[ASN][1000 genomes]
rs34596580	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34688449	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34913236	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35160848	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35369871	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4131649	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4131651	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4234420	0.95[ASN][1000 genomes]
rs4270476	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4437113	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449291	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470481	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4504146	0.83[ASN][1000 genomes]
rs4533618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4558731	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574266	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682661	0.95[ASN][1000 genomes]
rs4682663	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55721085	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6774600	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6810377	1.00[JPT][hapmap]
rs71331752	0.92[ASN][1000 genomes]
rs7431754	0.95[ASN][1000 genomes]
rs7614238	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621320	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7641605	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644134	0.92[ASN][1000 genomes]
rs7652144	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289467	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843732	1.00[JPT][hapmap]
rs9863226	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9866886	0.85[AMR][1000 genomes];0.87[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4510358	RP11-375I20.6	cis	Thyroid	GTEx
rs4510358	RP11-375I20.6	cis	Skin Sun Exposed Lower leg	GTEx
rs4510358	RP11-375I20.6	cis	Nerve Tibial	GTEx
rs4510358	RP11-375I20.6	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134030000-134037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:134033000-134037200	Enhancers	HSMM	muscle
3	chr3:134033200-134037400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:134033400-134037200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:134033400-134037200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:134033400-134037200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:134033400-134037600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:134033400-134037600	Enhancers	NHEK	skin
9	chr3:134033600-134036800	Enhancers	NHLF	lung
10	chr3:134033600-134037200	Enhancers	NHDF-Ad	bronchial
11	chr3:134034000-134037000	Enhancers	Adipose Nuclei	Adipose
12	chr3:134034000-134039400	Weak transcription	Gastric	stomach
13	chr3:134034200-134037200	Enhancers	A549	lung
14	chr3:134034200-134037600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:134034600-134046200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:134034800-134036800	Enhancers	HUVEC	blood vessel
17	chr3:134034800-134037000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:134034800-134037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:134034800-134037600	Enhancers	Osteobl	bone
20	chr3:134034800-134041600	Weak transcription	Pancreas	Pancrea
21	chr3:134034800-134043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:134034800-134044200	Weak transcription	Right Ventricle	heart
23	chr3:134035000-134037000	Enhancers	NH-A	brain
24	chr3:134035000-134039400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:134035000-134041200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:134035000-134044000	Weak transcription	Fetal Heart	heart
27	chr3:134035000-134044200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:134035000-134045000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:134035000-134058800	Weak transcription	Liver	Liver
30	chr3:134035200-134039400	Weak transcription	Stomach Mucosa	stomach
31	chr3:134035800-134037200	Enhancers	Placenta	Placenta
32	chr3:134035800-134037200	Enhancers	HSMMtube	muscle
33	chr3:134035800-134037400	Enhancers	HMEC	breast
34	chr3:134036000-134036600	Enhancers	Esophagus	oesophagus
35	chr3:134036000-134036600	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:134036000-134036600	Enhancers	Lung	lung
37	chr3:134036000-134036600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr3:134036000-134036600	Enhancers	Right Atrium	heart
39	chr3:134036000-134036800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:134036000-134036800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:134036000-134036800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:134036000-134036800	Enhancers	Aorta	Aorta
43	chr3:134036000-134037000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:134036200-134036600	Enhancers	Fetal Brain Female	brain
45	chr3:134036200-134036600	Enhancers	Fetal Muscle Leg	muscle
46	chr3:134036400-134036600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:134036400-134036600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:134036400-134036600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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