Variant report

Variant	rs17112247
Chromosome Location	chr1:85064272-85064273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85062635..85064532-chr1:85066699..85068510,2	K562	blood:
2	chr1:85046450..85049039-chr1:85062565..85064761,2	K562	blood:
3	chr1:85060422..85063217-chr1:85063481..85066367,2	K562	blood:
4	chr1:85038534..85040973-chr1:85062371..85064960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1043493	1.00[ASN][1000 genomes]
rs1156435	1.00[ASN][1000 genomes]
rs11801891	1.00[ASN][1000 genomes]
rs11802781	1.00[ASN][1000 genomes]
rs11804372	1.00[ASN][1000 genomes]
rs1395418	0.84[CEU][hapmap]
rs17099163	1.00[ASN][1000 genomes]
rs17111299	1.00[ASN][1000 genomes]
rs17111308	1.00[ASN][1000 genomes]
rs17111314	1.00[ASN][1000 genomes]
rs17111351	1.00[ASN][1000 genomes]
rs17111464	1.00[ASN][1000 genomes]
rs17112191	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365723	0.84[CEU][hapmap]
rs17374753	0.84[CEU][hapmap]
rs17540101	0.84[CEU][hapmap]
rs4907081	0.83[CEU][hapmap]
rs57295979	1.00[ASN][1000 genomes]
rs57674741	1.00[ASN][1000 genomes]
rs59898877	1.00[ASN][1000 genomes]
rs61699375	1.00[ASN][1000 genomes]
rs72950323	1.00[ASN][1000 genomes]
rs72950341	1.00[ASN][1000 genomes]
rs7517918	1.00[ASN][1000 genomes]
rs7524406	1.00[ASN][1000 genomes]
rs7530632	1.00[ASN][1000 genomes]
rs7533783	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85052000-85064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:85062600-85064400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:85062800-85064400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:85062800-85066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:85063400-85064400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:85063400-85064800	Enhancers	NHLF	lung
8	chr1:85063400-85065400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:85063600-85064400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:85063600-85064400	Enhancers	Osteobl	bone
11	chr1:85063600-85064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85063600-85064600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:85063600-85065000	Weak transcription	Aorta	Aorta
14	chr1:85063600-85065400	Enhancers	NHDF-Ad	bronchial
15	chr1:85063800-85064800	Weak transcription	Fetal Heart	heart
16	chr1:85064000-85064600	Enhancers	HSMM	muscle
17	chr1:85064000-85065000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:85064200-85064400	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:85064200-85064600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:85064200-85064800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:85064200-85064800	Enhancers	HUVEC	blood vessel
22	chr1:85064200-85065000	Enhancers	Hela-S3	cervix
23	chr1:85064200-85065000	Flanking Active TSS	NH-A	brain
24	chr1:85064200-85065400	Enhancers	Colon Smooth Muscle	Colon
25	chr1:85064200-85065600	Enhancers	Brain Angular Gyrus	brain
26	chr1:85064200-85065600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:85064200-85065800	Flanking Active TSS	GM12878-XiMat	blood

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