Variant report

Variant	rs17134175
Chromosome Location	chr5:111518928-111518929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10463628	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11948718	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952407	1.00[AMR][1000 genomes]
rs11954056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11954058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427976	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427977	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134169	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134172	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134215	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17134220	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134247	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17134248	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331945	1.00[AMR][1000 genomes]
rs4354094	1.00[AMR][1000 genomes]
rs4355564	1.00[AMR][1000 genomes]
rs4604230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4958016	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs4958017	0.81[YRI][hapmap]
rs4998734	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	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
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv519077	chr5:111506751-111519018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
3	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
4	chr5:111502800-111546000	Weak transcription	Ovary	ovary
5	chr5:111503600-111519000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:111503600-111527800	Weak transcription	Psoas Muscle	Psoas
7	chr5:111503600-111537400	Weak transcription	Lung	lung
8	chr5:111504800-111541400	Weak transcription	Right Ventricle	heart
9	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:111504800-111586400	Weak transcription	Gastric	stomach
11	chr5:111505000-111521000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:111505000-111537400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:111505600-111521000	Weak transcription	Placenta	Placenta
14	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:111505800-111519000	Weak transcription	Fetal Brain Female	brain
16	chr5:111506400-111519000	Weak transcription	Fetal Kidney	kidney
17	chr5:111510800-111520600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:111510800-111540000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
20	chr5:111511000-111520400	Weak transcription	Liver	Liver
21	chr5:111518200-111519000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:111518400-111520600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:111518600-111519200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:111518600-111519600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:111518600-111519600	Enhancers	A549	lung
26	chr5:111518800-111519000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:111518800-111519000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:111518800-111519200	Enhancers	Pancreas	Pancrea
29	chr5:111518800-111519200	Enhancers	Right Atrium	heart
30	chr5:111518800-111519200	Enhancers	Stomach Mucosa	stomach
31	chr5:111518800-111519200	Flanking Active TSS	NHEK	skin
32	chr5:111518800-111519400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:111518800-111519400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:111518800-111519400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:111518800-111519400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:111518800-111519400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:111518800-111519400	Enhancers	Fetal Heart	heart
38	chr5:111518800-111519400	Genic enhancers	Left Ventricle	heart
39	chr5:111518800-111519600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:111518800-111519600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:111518800-111519600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:111518800-111519600	Strong transcription	Adipose Nuclei	Adipose
43	chr5:111518800-111519600	Enhancers	Brain Anterior Caudate	brain
44	chr5:111518800-111519600	Enhancers	NH-A	brain
45	chr5:111518800-111519800	Enhancers	Esophagus	oesophagus
46	chr5:111518800-111519800	Enhancers	HMEC	breast
47	chr5:111518800-111520600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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