Variant report

Variant	rs7912440
Chromosome Location	chr10:4893851-4893852
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000151632	Chromatin interaction
ENSG00000239148	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10795205	0.90[AFR][1000 genomes]
rs12569410	0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs12569715	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12569839	0.86[ASN][1000 genomes]
rs12570011	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12570641	0.86[ASN][1000 genomes]
rs12571065	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12571192	0.86[ASN][1000 genomes]
rs12571212	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12571543	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12571691	0.86[ASN][1000 genomes]
rs12571940	0.86[ASN][1000 genomes]
rs12571967	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12571976	0.86[ASN][1000 genomes]
rs12571980	0.86[ASN][1000 genomes]
rs12572008	0.86[ASN][1000 genomes]
rs12572181	0.86[ASN][1000 genomes]
rs12573010	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12573159	0.86[ASN][1000 genomes]
rs12573197	0.86[ASN][1000 genomes]
rs12573397	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12573398	0.86[ASN][1000 genomes]
rs12573501	0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12573669	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12573690	0.86[ASN][1000 genomes]
rs12573808	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133680	0.80[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133691	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs17133693	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133697	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133705	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133710	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs17133724	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133747	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs17133748	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133751	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133752	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133753	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133759	0.90[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133762	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133779	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133780	0.86[ASN][1000 genomes]
rs17133791	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133794	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17133796	0.86[ASN][1000 genomes]
rs1869214	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1869215	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1869216	0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1869217	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1869219	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1869220	0.86[ASN][1000 genomes]
rs1901642	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1901645	0.84[ASW][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs1993182	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2278869	0.86[ASN][1000 genomes]
rs2290348	0.86[ASN][1000 genomes]
rs2290349	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2290350	0.86[ASN][1000 genomes]
rs2397982	0.86[ASN][1000 genomes]
rs2397983	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2397985	0.86[ASN][1000 genomes]
rs2397986	0.86[ASN][1000 genomes]
rs2924269	0.81[MKK][hapmap]
rs2924271	0.90[AFR][1000 genomes]
rs2924273	0.83[AFR][1000 genomes]
rs2924275	0.97[ASN][1000 genomes]
rs2924276	0.80[AFR][1000 genomes]
rs2924277	0.84[ASW][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap]
rs2924278	0.88[LWK][hapmap];0.88[MKK][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes]
rs2961562	0.89[AFR][1000 genomes]
rs2961570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961574	0.90[AFR][1000 genomes]
rs2961577	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs2961580	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs2961582	0.81[AFR][1000 genomes]
rs2961583	0.83[AFR][1000 genomes]
rs2961584	0.80[YRI][hapmap];0.83[AFR][1000 genomes]
rs34882719	0.86[ASN][1000 genomes]
rs35340010	0.86[ASN][1000 genomes]
rs3750737	0.86[ASN][1000 genomes]
rs3750738	0.86[ASN][1000 genomes]
rs3750739	0.86[ASN][1000 genomes]
rs3750740	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs41289263	0.86[ASN][1000 genomes]
rs4242772	0.92[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs4242773	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs4317889	0.89[MKK][hapmap]
rs4339941	0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4347286	0.93[AFR][1000 genomes]
rs4397733	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4480435	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4518987	0.86[ASN][1000 genomes]
rs4562702	0.90[AFR][1000 genomes]
rs4578280	0.80[AFR][1000 genomes]
rs4593903	0.86[ASN][1000 genomes]
rs4881356	0.92[AFR][1000 genomes]
rs7077134	0.88[YRI][hapmap]
rs7090869	0.91[MKK][hapmap]
rs72478258	0.84[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7912440	AKR1E2	cis	parietal	SCAN
rs7912440	AKR1E2	cis	cerebellum	SCAN
rs7912440	AKR1C1	cis	parietal	SCAN
rs7912440	AKR1C1	cis	cerebellum	SCAN

Chromatin state (count:42 , 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	chr10:4892000-4894400	Enhancers	Right Atrium	heart
17	chr10:4892000-4895000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:4892200-4917800	Weak transcription	Primary T cells from cord blood	blood
19	chr10:4892400-4894400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:4892400-4895800	Enhancers	Adipose Nuclei	Adipose
21	chr10:4892400-4896800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:4892600-4894000	Weak transcription	Fetal Brain Male	brain
23	chr10:4892600-4894000	Weak transcription	Fetal Heart	heart
24	chr10:4892600-4894000	Weak transcription	Hela-S3	cervix
25	chr10:4892600-4894200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:4892600-4895000	Weak transcription	Fetal Kidney	kidney
27	chr10:4892600-4895600	Weak transcription	Aorta	Aorta
28	chr10:4892600-4896800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:4892600-4899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:4892600-4899600	Weak transcription	Fetal Stomach	stomach
31	chr10:4892800-4894000	Weak transcription	NHDF-Ad	bronchial
32	chr10:4893000-4894000	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:4893000-4894000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:4893000-4897000	Weak transcription	HepG2	liver
35	chr10:4893000-4925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:4893400-4894000	Weak transcription	A549	lung
37	chr10:4893400-4894600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:4893600-4895200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:4893600-4895400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr10:4893600-4896000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:4893800-4894600	Weak transcription	K562	blood
42	chr10:4893800-4895800	Enhancers	Fetal Lung	lung

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