Variant report

Variant	rs17145259
Chromosome Location	chr5:118698609-118698610
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:
2	chr5:118690596..118694725-chr5:118695495..118698867,4	MCF-7	breast:
3	chr5:118697330..118698986-chr5:118703713..118705854,2	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10041464	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10053031	1.00[ASN][1000 genomes]
rs10055743	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060971	1.00[MEX][hapmap]
rs10064524	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10064668	1.00[ASN][1000 genomes]
rs10064783	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069480	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519575	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10519576	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11539471	1.00[JPT][hapmap]
rs11746780	1.00[JPT][hapmap]
rs11748477	1.00[JPT][hapmap]
rs11748530	1.00[JPT][hapmap]
rs11957255	1.00[JPT][hapmap]
rs17145194	1.00[JPT][hapmap]
rs17145196	1.00[JPT][hapmap]
rs17145372	1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs17145471	1.00[JPT][hapmap]
rs17145473	1.00[JPT][hapmap]
rs17145475	1.00[JPT][hapmap]
rs17145476	1.00[JPT][hapmap]
rs17385942	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2560718	1.00[JPT][hapmap]
rs3797344	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3797345	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3850201	1.00[JPT][hapmap]
rs4895192	1.00[ASN][1000 genomes]
rs4895374	1.00[ASN][1000 genomes]
rs55682871	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55796175	1.00[ASN][1000 genomes]
rs55933899	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56206018	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303741	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57598751	1.00[ASN][1000 genomes]
rs57722161	1.00[ASN][1000 genomes]
rs59034186	1.00[ASN][1000 genomes]
rs59119324	1.00[ASN][1000 genomes]
rs59406275	0.83[AMR][1000 genomes]
rs60795377	1.00[ASN][1000 genomes]
rs60832077	1.00[ASN][1000 genomes]
rs61412235	1.00[ASN][1000 genomes]
rs61415411	1.00[ASN][1000 genomes]
rs6595184	1.00[ASN][1000 genomes]
rs66534333	1.00[ASN][1000 genomes]
rs67967956	1.00[ASN][1000 genomes]
rs68024523	1.00[ASN][1000 genomes]
rs6860034	1.00[ASN][1000 genomes]
rs6862941	1.00[ASN][1000 genomes]
rs6869623	1.00[ASN][1000 genomes]
rs6880890	0.88[EUR][1000 genomes]
rs6882000	1.00[CEU][hapmap]
rs6883394	1.00[JPT][hapmap]
rs6891981	1.00[ASN][1000 genomes]
rs72786113	1.00[ASN][1000 genomes]
rs72786116	1.00[ASN][1000 genomes]
rs72786125	1.00[ASN][1000 genomes]
rs72786136	1.00[ASN][1000 genomes]
rs72786143	1.00[ASN][1000 genomes]
rs72786161	1.00[ASN][1000 genomes]
rs72788123	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788136	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72788144	1.00[ASN][1000 genomes]
rs72788145	1.00[ASN][1000 genomes]
rs72788146	1.00[ASN][1000 genomes]
rs72788148	1.00[ASN][1000 genomes]
rs72788162	1.00[ASN][1000 genomes]
rs72788163	1.00[ASN][1000 genomes]
rs72788165	1.00[ASN][1000 genomes]
rs72788177	1.00[ASN][1000 genomes]
rs72788186	1.00[ASN][1000 genomes]
rs73237289	1.00[ASN][1000 genomes]
rs73790852	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73790862	1.00[ASN][1000 genomes]
rs73794110	1.00[ASN][1000 genomes]
rs7701561	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7701688	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7704291	1.00[JPT][hapmap]
rs7704487	1.00[JPT][hapmap]
rs7722172	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7723390	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7723933	1.00[ASN][1000 genomes]
rs7725244	1.00[ASN][1000 genomes]
rs7729690	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7731552	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7734378	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	1.00[JPT][hapmap]
rs9327100	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]

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	esv16366	chr5:118692052-118702846	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv599566	chr5:118698583-118702783	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:118691800-118700400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
5	chr5:118693000-118699800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:118693200-118698800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:118693400-118699200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr5:118693800-118701600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:118694400-118700400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:118694600-118700400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr5:118694800-118701200	Weak transcription	Fetal Lung	lung
16	chr5:118694800-118701600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:118694800-118703800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:118695000-118699400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:118695000-118699800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:118695000-118701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:118695000-118702000	Weak transcription	Colonic Mucosa	Colon
22	chr5:118695000-118702400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:118695200-118699600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:118695200-118703000	Genic enhancers	Primary B cells from cord blood	blood
25	chr5:118695200-118706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:118695400-118701600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:118695600-118700200	Genic enhancers	Primary T cells from cord blood	blood
28	chr5:118695800-118699000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr5:118695800-118699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:118696000-118702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:118696000-118704200	Weak transcription	Fetal Intestine Small	intestine
32	chr5:118696200-118699800	Enhancers	Placenta	Placenta
33	chr5:118696200-118700000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:118696200-118700800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:118696200-118701400	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:118696200-118702000	Weak transcription	Fetal Kidney	kidney
37	chr5:118696400-118703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:118696600-118699000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:118696600-118699000	Weak transcription	Fetal Stomach	stomach
40	chr5:118696600-118701000	Weak transcription	Stomach Mucosa	stomach
41	chr5:118696800-118699200	Enhancers	Esophagus	oesophagus
42	chr5:118696800-118701400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:118696800-118703000	Weak transcription	A549	lung
44	chr5:118696800-118704400	Enhancers	HMEC	breast
45	chr5:118697000-118699400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:118697000-118699400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:118697000-118699800	Weak transcription	Hela-S3	cervix
48	chr5:118697000-118701200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:118697000-118702000	Weak transcription	Small Intestine	intestine
50	chr5:118697000-118702400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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