Variant report

Variant	rs4363494
Chromosome Location	chr10:4895192-4895193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4889192..4892732-chr10:4894446..4896505,3	K562	blood:
2	chr10:4895156..4896682-chr10:4909578..4911685,2	K562	blood:
3	chr10:4893084..4895954-chr10:5045040..5046990,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151632	Chromatin interaction
ENSG00000239148	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10795202	1.00[ASN][1000 genomes]
rs10795206	0.94[EUR][1000 genomes]
rs10795207	0.92[EUR][1000 genomes]
rs10795208	0.92[EUR][1000 genomes]
rs10904351	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904353	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10904357	0.93[EUR][1000 genomes]
rs10904361	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs10904365	0.91[EUR][1000 genomes]
rs11252763	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11252775	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11252808	0.92[EUR][1000 genomes]
rs12572536	0.94[EUR][1000 genomes]
rs2123350	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2123353	0.90[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2167698	0.91[ASN][1000 genomes]
rs2167701	1.00[ASN][1000 genomes]
rs2167702	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2278870	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961559	0.84[ASN][1000 genomes]
rs3924661	0.90[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap]
rs4242781	0.81[MKK][hapmap]
rs4880690	1.00[ASN][1000 genomes]
rs4880691	1.00[ASN][1000 genomes]
rs4881353	0.93[GIH][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4881355	1.00[ASN][1000 genomes]
rs7089546	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7921112	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4886000-4909800	Weak transcription	Left Ventricle	heart
2	chr10:4888000-4896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:4888400-4896800	Weak transcription	Spleen	Spleen
4	chr10:4889600-4895800	Enhancers	Stomach Mucosa	stomach
5	chr10:4891200-4895600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:4891200-4899600	Weak transcription	Esophagus	oesophagus
7	chr10:4891600-4896200	Enhancers	Liver	Liver
8	chr10:4891800-4895200	Enhancers	Pancreas	Pancrea
9	chr10:4892200-4917800	Weak transcription	Primary T cells from cord blood	blood
10	chr10:4892400-4895800	Enhancers	Adipose Nuclei	Adipose
11	chr10:4892400-4896800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:4892600-4895600	Weak transcription	Aorta	Aorta
13	chr10:4892600-4896800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:4892600-4899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:4892600-4899600	Weak transcription	Fetal Stomach	stomach
16	chr10:4893000-4897000	Weak transcription	HepG2	liver
17	chr10:4893000-4925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:4893600-4895200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:4893600-4895400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr10:4893600-4896000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:4893800-4895800	Enhancers	Fetal Lung	lung
22	chr10:4894000-4895400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:4894000-4895800	Enhancers	Colon Smooth Muscle	Colon
24	chr10:4894200-4895200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr10:4894400-4895200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr10:4894400-4895400	Weak transcription	Right Atrium	heart
27	chr10:4894400-4895800	Strong transcription	A549	lung
28	chr10:4894600-4895200	Weak transcription	Fetal Heart	heart
29	chr10:4894600-4896000	Enhancers	K562	blood
30	chr10:4894600-4896200	Enhancers	Ovary	ovary
31	chr10:4895000-4895200	Enhancers	Fetal Kidney	kidney
32	chr10:4895000-4895800	Enhancers	Rectal Smooth Muscle	rectum
33	chr10:4895000-4896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:4895000-4897800	Weak transcription	Fetal Muscle Leg	muscle

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