Variant report

Variant	rs10795202
Chromosome Location	chr10:4893318-4893319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4865557..4869749-chr10:4889417..4893452,5	K562	blood:
2	chr10:4891671..4893997-chr10:4908116..4911487,5	K562	blood:
3	chr10:4887846..4890181-chr10:4890997..4893869,2	MCF-7	breast:
4	chr10:4889478..4893997-chr10:4907910..4911141,5	K562	blood:
5	chr10:4892321..4893891-chr10:5065026..5067152,2	MCF-7	breast:
6	chr10:4893084..4895954-chr10:5045040..5046990,2	MCF-7	breast:
7	chr10:4893212..4893987-chr10:5023967..5024540,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151632	Chromatin interaction
ENSG00000165568	Chromatin interaction
ENSG00000239148	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10751986	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10751987	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10904351	1.00[ASN][1000 genomes]
rs11252763	0.90[ASN][1000 genomes]
rs11252775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2123350	0.89[ASN][1000 genomes]
rs2123353	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2167698	0.91[ASN][1000 genomes]
rs2167701	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167702	0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278870	1.00[ASN][1000 genomes]
rs2961559	0.83[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs3924661	0.80[GIH][hapmap];0.88[LWK][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap]
rs4363494	1.00[ASN][1000 genomes]
rs4880690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4880691	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4881353	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4881354	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4881355	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071039	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7089546	0.88[YRI][hapmap]
rs7921112	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10795202	AKR1E2	cis	cerebellum	SCAN
rs10795202	AKR1E2	cis	parietal	SCAN
rs10795202	AKR1C1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4878600-4894600	Weak transcription	Ovary	ovary
2	chr10:4880200-4894400	Weak transcription	Brain Germinal Matrix	brain
3	chr10:4886000-4909800	Weak transcription	Left Ventricle	heart
4	chr10:4888000-4896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:4888400-4896800	Weak transcription	Spleen	Spleen
6	chr10:4888600-4895000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:4889400-4894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:4889600-4895800	Enhancers	Stomach Mucosa	stomach
9	chr10:4890600-4894000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:4891200-4895600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:4891200-4899600	Weak transcription	Esophagus	oesophagus
12	chr10:4891400-4894000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:4891600-4896200	Enhancers	Liver	Liver
14	chr10:4891800-4895000	Enhancers	Fetal Muscle Leg	muscle
15	chr10:4891800-4895200	Enhancers	Pancreas	Pancrea
16	chr10:4892000-4893400	Weak transcription	Gastric	stomach
17	chr10:4892000-4893400	Enhancers	A549	lung
18	chr10:4892000-4894400	Enhancers	Right Atrium	heart
19	chr10:4892000-4895000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:4892200-4917800	Weak transcription	Primary T cells from cord blood	blood
21	chr10:4892400-4894400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:4892400-4895800	Enhancers	Adipose Nuclei	Adipose
23	chr10:4892400-4896800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:4892600-4893400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:4892600-4893400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr10:4892600-4893800	Weak transcription	Fetal Lung	lung
27	chr10:4892600-4894000	Weak transcription	Fetal Brain Male	brain
28	chr10:4892600-4894000	Weak transcription	Fetal Heart	heart
29	chr10:4892600-4894000	Weak transcription	Hela-S3	cervix
30	chr10:4892600-4894200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:4892600-4895000	Weak transcription	Fetal Kidney	kidney
32	chr10:4892600-4895600	Weak transcription	Aorta	Aorta
33	chr10:4892600-4896800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:4892600-4899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:4892600-4899600	Weak transcription	Fetal Stomach	stomach
36	chr10:4892800-4894000	Weak transcription	NHDF-Ad	bronchial
37	chr10:4893000-4893600	Enhancers	HSMM	muscle
38	chr10:4893000-4894000	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:4893000-4894000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:4893000-4897000	Weak transcription	HepG2	liver
41	chr10:4893000-4925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:4893200-4893600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:4893200-4893800	Strong transcription	K562	blood

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