Variant report

Variant	rs10069480
Chromosome Location	chr5:118700962-118700963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10041464	1.00[ASN][1000 genomes]
rs10053031	1.00[ASN][1000 genomes]
rs10055743	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064524	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10064668	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10064783	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
rs17145259	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145372	1.00[JPT][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[JPT][hapmap];1.00[ASN][1000 genomes]
rs2560718	1.00[JPT][hapmap]
rs3797344	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3797345	1.00[CEU][hapmap];1.00[JPT][hapmap];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	1.00[EUR][1000 genomes]
rs55796175	1.00[ASN][1000 genomes]
rs55933899	1.00[ASN][1000 genomes]
rs56206018	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303741	1.00[ASN][1000 genomes]
rs57598751	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57722161	1.00[ASN][1000 genomes]
rs59034186	1.00[ASN][1000 genomes]
rs59119324	1.00[ASN][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	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66534333	1.00[ASN][1000 genomes]
rs67967956	1.00[ASN][1000 genomes]
rs68024523	1.00[ASN][1000 genomes]
rs6860034	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6862941	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6869623	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6880890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788136	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	1.00[ASN][1000 genomes]
rs73790862	1.00[ASN][1000 genomes]
rs73794110	1.00[ASN][1000 genomes]
rs7701561	1.00[CEU][hapmap];1.00[JPT][hapmap];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	1.00[ASN][1000 genomes]
rs7731552	0.95[EUR][1000 genomes]
rs7734378	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7737934	1.00[JPT][hapmap]
rs9327100	1.00[CEU][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv599567	chr5:118698983-118702783	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
3	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:118693800-118701600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:118694800-118701200	Weak transcription	Fetal Lung	lung
9	chr5:118694800-118701600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:118694800-118703800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:118695000-118701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:118695000-118702000	Weak transcription	Colonic Mucosa	Colon
13	chr5:118695000-118702400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:118695200-118703000	Genic enhancers	Primary B cells from cord blood	blood
15	chr5:118695200-118706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:118695400-118701600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:118696000-118702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:118696000-118704200	Weak transcription	Fetal Intestine Small	intestine
19	chr5:118696200-118701400	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:118696200-118702000	Weak transcription	Fetal Kidney	kidney
21	chr5:118696400-118703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:118696600-118701000	Weak transcription	Stomach Mucosa	stomach
23	chr5:118696800-118701400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:118696800-118703000	Weak transcription	A549	lung
25	chr5:118696800-118704400	Enhancers	HMEC	breast
26	chr5:118697000-118701200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:118697000-118702000	Weak transcription	Small Intestine	intestine
28	chr5:118697000-118702400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:118697200-118701600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:118697200-118701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:118697200-118702600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:118697400-118701200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:118697600-118701000	Weak transcription	HSMMtube	muscle
34	chr5:118697600-118701600	Weak transcription	Pancreas	Pancrea
35	chr5:118697600-118701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:118697600-118701600	Weak transcription	NHDF-Ad	bronchial
37	chr5:118697600-118702000	Weak transcription	Right Atrium	heart
38	chr5:118697600-118702400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:118697600-118703000	Weak transcription	NHLF	lung
40	chr5:118697600-118703400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:118697600-118703600	Weak transcription	HSMM	muscle
42	chr5:118697800-118701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:118697800-118701000	Weak transcription	Fetal Heart	heart
44	chr5:118697800-118701400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:118697800-118701600	Weak transcription	Lung	lung
46	chr5:118698000-118701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:118698000-118701600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:118698000-118701600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:118698000-118702000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:118698000-118702000	Weak transcription	Osteobl	bone

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