Variant report

Variant	rs2910600
Chromosome Location	chr5:57483668-57483669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57480309..57485854-chr5:57746705..57749645,6	MCF-7	breast:
2	chr5:57476926..57490322-chr5:57753628..57758155,26	MCF-7	breast:
3	chr5:57376378..57378966-chr5:57481902..57484243,2	MCF-7	breast:
4	chr5:57477268..57479454-chr5:57480690..57483855,3	MCF-7	breast:
5	chr5:57477916..57481431-chr5:57481890..57485680,5	MCF-7	breast:
6	chr5:57481839..57487904-chr5:57753425..57757545,13	MCF-7	breast:
7	chr5:57482131..57485678-chr5:57554046..57557182,5	MCF-7	breast:
8	chr5:57156959..57158801-chr5:57482652..57484519,2	MCF-7	breast:
9	chr5:57390904..57391715-chr5:57483326..57484235,2	MCF-7	breast:
10	chr5:57482679..57484288-chr5:57751026..57752676,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1035475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168414	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13187650	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469090	0.84[AFR][1000 genomes]
rs1473200	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151868	0.84[AFR][1000 genomes]
rs152010	1.00[YRI][hapmap]
rs154670	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs154671	0.84[AFR][1000 genomes]
rs154673	0.84[AFR][1000 genomes]
rs1549243	1.00[ASN][1000 genomes]
rs181745	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1862539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1981838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981839	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081087	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2194195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216678	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216683	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2216685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409013	0.81[EUR][1000 genomes]
rs2434584	0.84[AFR][1000 genomes]
rs245282	0.84[AFR][1000 genomes]
rs245285	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs245287	0.84[AFR][1000 genomes]
rs245295	0.84[AFR][1000 genomes]
rs245493	0.81[LWK][hapmap];1.00[YRI][hapmap]
rs2860439	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910567	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2910569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910571	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910573	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2910577	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2910592	0.88[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2910593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910601	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910612	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2961999	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2962021	1.00[ASN][1000 genomes]
rs2962024	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2964184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964193	0.84[AFR][1000 genomes]
rs2964200	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs34969852	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs37484	0.84[AFR][1000 genomes]
rs37485	0.84[AFR][1000 genomes]
rs37486	0.84[AFR][1000 genomes]
rs37488	0.84[AFR][1000 genomes]
rs37492	0.88[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs37516	0.84[AFR][1000 genomes]
rs37523	0.84[AFR][1000 genomes]
rs37526	0.84[AFR][1000 genomes]
rs37527	0.84[AFR][1000 genomes]
rs37528	0.84[AFR][1000 genomes]
rs37536	0.84[AFR][1000 genomes]
rs40209	0.84[AFR][1000 genomes]
rs40210	0.84[AFR][1000 genomes]
rs41384	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs988697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989579	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2910600	NDUFAF2	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57477200-57486000	Enhancers	HSMM	muscle
2	chr5:57478000-57483800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:57478600-57483800	Enhancers	NHEK	skin
4	chr5:57478800-57484200	Weak transcription	Left Ventricle	heart
5	chr5:57478800-57484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:57479000-57484000	Weak transcription	Fetal Kidney	kidney
7	chr5:57479400-57485200	Weak transcription	Aorta	Aorta
8	chr5:57479600-57483800	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:57480000-57483800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:57480000-57486000	Enhancers	Osteobl	bone
11	chr5:57482000-57483800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:57482600-57486000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:57482600-57486000	Enhancers	HMEC	breast
14	chr5:57482800-57484200	Flanking Active TSS	A549	lung
15	chr5:57482800-57485000	Enhancers	Liver	Liver
16	chr5:57482800-57485800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:57482800-57486200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:57482800-57486200	Enhancers	HSMMtube	muscle
19	chr5:57483000-57484400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:57483000-57485000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:57483000-57486000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:57483000-57488400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:57483400-57484400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:57483400-57485000	Enhancers	HUVEC	blood vessel
25	chr5:57483400-57485000	Enhancers	NH-A	brain
26	chr5:57483400-57485600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:57483600-57483800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:57483600-57483800	Flanking Active TSS	Hela-S3	cervix
29	chr5:57483600-57484000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:57483600-57484000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr5:57483600-57484200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:57483600-57484200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:57483600-57484400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:57483600-57484600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:57483600-57485400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:57483600-57485600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:57483600-57486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:57483600-57486000	Enhancers	NHDF-Ad	bronchial
39	chr5:57483600-57486000	Enhancers	NHLF	lung

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