Variant report

Variant	rs17134169
Chromosome Location	chr5:111511063-111511064
allele	A/G
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:111510441..111511287-chr5:111827720..111828672,2	K562	blood:
2	chr5:111510545..111511303-chr5:111755668..111756501,4	K562	blood:
3	chr5:111510679..111511249-chr5:111755846..111756377,2	MCF-7	breast:
4	chr5:111510526..111511304-chr5:111827701..111828275,2	MCF-7	breast:
5	chr5:111510501..111511275-chr5:111521767..111522782,4	MCF-7	breast:
6	chr5:111499476..111503077-chr5:111510420..111514419,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APC-5	chr5:111510908-111511245	ENSG00000250882.1

No data

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]
rs11948718	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952407	1.00[AMR][1000 genomes]
rs11954056	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11954058	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427976	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1427977	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134172	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134175	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134215	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17134220	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134247	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17134248	1.00[YRI][hapmap];0.86[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	0.86[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111498200-111518800	Weak transcription	Right Atrium	heart
3	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
4	chr5:111502400-111518800	Weak transcription	Pancreas	Pancrea
5	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
6	chr5:111502800-111546000	Weak transcription	Ovary	ovary
7	chr5:111503600-111519000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:111503600-111527800	Weak transcription	Psoas Muscle	Psoas
9	chr5:111503600-111537400	Weak transcription	Lung	lung
10	chr5:111504000-111513400	Weak transcription	Hela-S3	cervix
11	chr5:111504400-111517800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:111504800-111518800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:111504800-111541400	Weak transcription	Right Ventricle	heart
14	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:111504800-111586400	Weak transcription	Gastric	stomach
16	chr5:111505000-111518800	Weak transcription	Esophagus	oesophagus
17	chr5:111505000-111521000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:111505000-111537400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:111505600-111521000	Weak transcription	Placenta	Placenta
20	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:111505800-111519000	Weak transcription	Fetal Brain Female	brain
22	chr5:111506000-111518800	Weak transcription	Left Ventricle	heart
23	chr5:111506400-111519000	Weak transcription	Fetal Kidney	kidney
24	chr5:111506600-111514600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:111506800-111516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:111507200-111517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:111507600-111518600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:111510200-111511200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:111510600-111511200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:111510600-111511200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:111510600-111511200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:111510600-111511200	Enhancers	Adipose Nuclei	Adipose
33	chr5:111510600-111511200	Active TSS	Brain Angular Gyrus	brain
34	chr5:111510600-111511200	Enhancers	Fetal Heart	heart
35	chr5:111510800-111512200	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:111510800-111518000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:111510800-111518600	Weak transcription	NHEK	skin
38	chr5:111510800-111520600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:111510800-111540000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
41	chr5:111511000-111511200	Enhancers	Brain Substantia Nigra	brain
42	chr5:111511000-111520400	Weak transcription	Liver	Liver

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