Variant report

Variant	rs17134503
Chromosome Location	chr5:111750632-111750633
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111496426..111499133-chr5:111749642..111751154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10039730	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10044406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10051512	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10060962	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10061025	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10068969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10068974	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10069608	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10069773	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10071058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10071862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478081	1.00[JPT][hapmap]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478084	1.00[JPT][hapmap]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12187850	1.00[CHB][hapmap]
rs13354202	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1524423	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1554624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134382	1.00[CHB][hapmap]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134454	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34798456	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4958046	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6594596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6860402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6863610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6865127	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[CHB][hapmap]
rs6875349	1.00[CHB][hapmap]
rs6878092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6878158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs721054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs721055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7702999	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7706551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7706737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7709879	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7709963	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7710041	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7710507	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7725728	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7730739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs821746	1.00[CHB][hapmap]
rs9326853	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs985873	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9885137	1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999243	1.00[JPT][hapmap]

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	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
2	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
3	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
4	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
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
7	chr5:111740400-111751400	Weak transcription	Ovary	ovary
8	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
9	chr5:111743600-111753400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:111744200-111752600	Weak transcription	Hela-S3	cervix
11	chr5:111746200-111753400	Weak transcription	Right Ventricle	heart
12	chr5:111746600-111753800	Weak transcription	Spleen	Spleen
13	chr5:111748000-111751200	Enhancers	Fetal Heart	heart
14	chr5:111748000-111752000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:111748000-111753600	Weak transcription	Pancreas	Pancrea
16	chr5:111748000-111754200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:111748200-111753400	Weak transcription	Fetal Lung	lung
18	chr5:111748600-111750800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:111748600-111753600	Weak transcription	Left Ventricle	heart
20	chr5:111749400-111752800	Weak transcription	Aorta	Aorta
21	chr5:111749400-111753400	Weak transcription	Fetal Kidney	kidney
22	chr5:111749400-111753600	Weak transcription	Lung	lung
23	chr5:111749600-111753000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:111749600-111753600	Weak transcription	Esophagus	oesophagus
25	chr5:111749600-111753600	Weak transcription	Gastric	stomach
26	chr5:111749600-111753600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:111749800-111750800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:111749800-111752600	Weak transcription	HUVEC	blood vessel
29	chr5:111749800-111752800	Weak transcription	Psoas Muscle	Psoas
30	chr5:111749800-111753400	Weak transcription	NHEK	skin
31	chr5:111749800-111753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:111750000-111751000	Enhancers	Adipose Nuclei	Adipose
33	chr5:111750400-111752600	Weak transcription	Right Atrium	heart
34	chr5:111750400-111753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:111750600-111751000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:111750600-111751600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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