Variant report

Variant	rs17085857
Chromosome Location	chr4:56392555-56392556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56286788..56288387-chr4:56389621..56392598,2	K562	blood:
2	chr4:56391470..56393845-chr4:56410796..56413305,3	MCF-7	breast:
3	chr4:56391142..56392976-chr4:56411916..56414775,3	K562	blood:

Variant related genes	Relation type
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1047343	1.00[AMR][1000 genomes]
rs10517345	1.00[AMR][1000 genomes]
rs1552522	1.00[AMR][1000 genomes]
rs17085783	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085803	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085882	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085885	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2412650	1.00[AMR][1000 genomes]
rs34028624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34822003	1.00[AMR][1000 genomes]
rs58578647	1.00[AMR][1000 genomes]
rs73151822	1.00[AMR][1000 genomes]
rs73151893	1.00[AMR][1000 genomes]
rs73153621	1.00[AMR][1000 genomes]
rs73153661	1.00[AMR][1000 genomes]
rs73153688	1.00[AMR][1000 genomes]
rs73816271	1.00[AMR][1000 genomes]
rs73816274	1.00[AMR][1000 genomes]
rs7657206	1.00[AMR][1000 genomes]
rs7659053	1.00[AMR][1000 genomes]
rs7661096	1.00[AMR][1000 genomes]
rs7662129	1.00[AMR][1000 genomes]
rs7663749	1.00[AMR][1000 genomes]
rs7686016	1.00[AMR][1000 genomes]
rs7696080	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56361600-56411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56372600-56405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:56375800-56393800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:56385000-56395800	Weak transcription	Primary B cells from cord blood	blood
5	chr4:56385000-56403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:56386000-56398600	Weak transcription	Fetal Stomach	stomach
7	chr4:56386800-56394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:56387200-56394800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:56387800-56398800	Weak transcription	Left Ventricle	heart
10	chr4:56388000-56394800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:56389600-56393800	Weak transcription	GM12878-XiMat	blood
12	chr4:56389800-56395600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:56390000-56395800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:56391600-56394200	Weak transcription	HSMMtube	muscle
15	chr4:56391600-56395600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:56391600-56397800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:56391600-56398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:56391600-56400600	Weak transcription	HSMM	muscle
19	chr4:56391600-56403400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:56391600-56405600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:56391600-56405600	Weak transcription	Osteobl	bone
22	chr4:56391600-56405800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:56391600-56408800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:56391600-56409400	Weak transcription	NHDF-Ad	bronchial
25	chr4:56391800-56396600	Weak transcription	Psoas Muscle	Psoas
26	chr4:56391800-56399800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:56391800-56409400	Weak transcription	HMEC	breast
28	chr4:56391800-56409400	Weak transcription	NHEK	skin
29	chr4:56391800-56409600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:56392200-56393400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links