Variant report

Variant	rs17012186
Chromosome Location	chr4:87868853-87868854
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87866421..87869517-chr4:87926538..87929020,3	MCF-7	breast:
2	chr4:87864190..87869754-chr4:87925812..87929793,8	K562	blood:
3	chr4:87866938..87869563-chr4:87883119..87884691,2	K562	blood:
4	chr4:87867281..87868896-chr4:87929541..87932174,2	MCF-7	breast:
5	chr4:87866844..87868969-chr4:88158554..88161014,2	K562	blood:
6	chr4:87854383..87857849-chr4:87866968..87869833,6	K562	blood:
7	chr4:87864895..87867766-chr4:87868101..87870668,2	MCF-7	breast:
8	chr20:46142556..46145108-chr4:87868263..87870801,2	MCF-7	breast:
9	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
10	chr4:87857968..87859669-chr4:87867267..87869680,2	MCF-7	breast:
11	chr4:87867208..87869675-chr4:87927269..87929156,3	MCF-7	breast:
12	chr4:87867715..87870000-chr4:87883212..87884800,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12506662	0.93[ASN][1000 genomes]
rs1447993	0.92[CHB][hapmap];0.82[ASN][1000 genomes]
rs1868246	0.92[CHB][hapmap]
rs1992876	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28522052	0.92[ASN][1000 genomes]
rs2869632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2904151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3775229	0.85[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3775230	0.81[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap]
rs386485	0.81[AFR][1000 genomes]
rs61586576	0.95[ASN][1000 genomes]
rs6419117	0.82[ASN][1000 genomes]
rs67773101	0.95[ASN][1000 genomes]
rs6836128	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs725030	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7671931	0.93[ASN][1000 genomes]
rs7693780	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7693889	0.92[ASN][1000 genomes]
rs9996533	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87880200	Weak transcription	HSMM	muscle
3	chr4:87858200-87869400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:87861000-87878000	Weak transcription	HMEC	breast
6	chr4:87861400-87877200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:87861400-87880800	Weak transcription	Aorta	Aorta
8	chr4:87861600-87869200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:87861600-87870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:87861800-87871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:87861800-87871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:87861800-87878000	Weak transcription	Osteobl	bone
13	chr4:87861800-87880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:87861800-87880600	Weak transcription	Fetal Kidney	kidney
15	chr4:87862400-87871200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:87863400-87869200	Enhancers	Dnd41	blood
17	chr4:87863400-87871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:87863600-87871800	Weak transcription	NHDF-Ad	bronchial
19	chr4:87864000-87870000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:87864000-87871800	Weak transcription	NHEK	skin
21	chr4:87864000-87878000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:87864400-87871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:87864400-87871800	Weak transcription	Fetal Intestine Large	intestine
24	chr4:87864400-87874400	Weak transcription	Liver	Liver
25	chr4:87864400-87880600	Weak transcription	Gastric	stomach
26	chr4:87864400-87880800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:87864600-87874400	Weak transcription	Hela-S3	cervix
28	chr4:87865400-87869400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:87865400-87869600	Enhancers	Primary hematopoietic stem cells	blood
30	chr4:87865400-87870200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:87865400-87870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:87865600-87869000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:87865800-87869200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:87865800-87869800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:87865800-87871000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:87866000-87869400	Enhancers	HepG2	liver
37	chr4:87866000-87869600	Enhancers	Colon Smooth Muscle	Colon
38	chr4:87866400-87871600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:87866400-87871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:87866400-87877000	Weak transcription	A549	lung
41	chr4:87866800-87869200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr4:87867400-87870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:87867400-87874200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:87867800-87869200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:87867800-87869400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr4:87867800-87869400	Enhancers	K562	blood
47	chr4:87867800-87869600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:87867800-87869600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:87867800-87869600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr4:87867800-87869800	Enhancers	Duodenum Mucosa	Duodenum

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