Variant report

Variant	rs17134859
Chromosome Location	chr5:112020302-112020303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112018949..112022294-chr5:112089786..112092475,3	MCF-7	breast:
2	chr5:112017960..112020508-chr5:112020777..112023084,3	K562	blood:
3	chr5:112015432..112017657-chr5:112019656..112021443,2	K562	blood:
4	chr5:112003283..112005720-chr5:112018708..112021018,2	MCF-7	breast:
5	chr5:112015114..112017797-chr5:112018212..112021156,3	K562	blood:
6	chr5:112018915..112020508-chr5:112020831..112023084,2	K562	blood:
7	chr5:112018990..112022293-chr5:112024063..112027716,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10515446	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11555908	1.00[JPT][hapmap]
rs11950612	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs12189	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap]
rs17164132	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1734242	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2304793	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs2707761	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs3733961	0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap]
rs56015954	0.94[ASN][1000 genomes]
rs58625991	0.87[ASN][1000 genomes]
rs60905866	0.94[ASN][1000 genomes]
rs6891448	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs73216203	0.96[ASN][1000 genomes]
rs7703438	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7706623	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs7728109	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112016400-112022600	Enhancers	NHDF-Ad	bronchial
2	chr5:112017600-112020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112018400-112020600	Weak transcription	Fetal Brain Female	brain
4	chr5:112018800-112024200	Weak transcription	K562	blood
5	chr5:112019400-112020800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112019600-112020400	Enhancers	Stomach Smooth Muscle	stomach
7	chr5:112019600-112020800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112019600-112020800	Enhancers	Brain Angular Gyrus	brain
9	chr5:112019600-112020800	Enhancers	Brain Anterior Caudate	brain
10	chr5:112019600-112020800	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:112019600-112020800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:112019600-112020800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:112019600-112020800	Enhancers	Right Atrium	heart
14	chr5:112019600-112021000	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:112019600-112021000	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:112019600-112021200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:112019600-112021200	Enhancers	Brain Germinal Matrix	brain
18	chr5:112019600-112021200	Enhancers	Fetal Muscle Leg	muscle
19	chr5:112019600-112021600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:112019600-112021800	Enhancers	HSMM	muscle
21	chr5:112019600-112022000	Enhancers	Ovary	ovary
22	chr5:112019600-112022200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:112019600-112022600	Enhancers	Fetal Heart	heart
24	chr5:112019600-112022600	Enhancers	NHLF	lung
25	chr5:112019800-112020400	Enhancers	Primary B cells from cord blood	blood
26	chr5:112019800-112020400	Flanking Active TSS	HSMMtube	muscle
27	chr5:112019800-112020800	Enhancers	Fetal Brain Male	brain
28	chr5:112020000-112020400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:112020000-112020400	Enhancers	Dnd41	blood
30	chr5:112020000-112020400	Enhancers	GM12878-XiMat	blood
31	chr5:112020000-112021800	Enhancers	Osteobl	bone
32	chr5:112020000-112022200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:112020200-112020400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:112020200-112020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:112020200-112020600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:112020200-112020600	Enhancers	Aorta	Aorta
37	chr5:112020200-112020600	Enhancers	Psoas Muscle	Psoas
38	chr5:112020200-112020800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:112020200-112020800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:112020200-112020800	Enhancers	Brain Hippocampus Middle	brain
41	chr5:112020200-112020800	Enhancers	NHEK	skin
42	chr5:112020200-112021000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:112020200-112021000	Enhancers	Brain Substantia Nigra	brain
44	chr5:112020200-112021400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:112020200-112021400	Enhancers	Colon Smooth Muscle	Colon
46	chr5:112020200-112021400	Enhancers	NH-A	brain
47	chr5:112020200-112022200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:112020200-112022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links