Variant report

Variant	rs6451703
Chromosome Location	chr5:43469508-43469509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43469236..43473884-chr5:43482769..43486101,7	MCF-7	breast:
2	chr5:43468688..43471085-chr5:43483481..43485906,3	K562	blood:
3	chr5:43421016..43422893-chr5:43468500..43470011,2	MCF-7	breast:
4	chr5:43396920..43399681-chr5:43469287..43470828,2	MCF-7	breast:
5	chr5:43469227..43470744-chr5:43482618..43484818,2	MCF-7	breast:
6	chr5:43467216..43470030-chr5:43556661..43559291,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000151882	Chromatin interaction
ENSG00000151881	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10036954	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10038608	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10042992	0.82[EUR][1000 genomes]
rs10045400	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045455	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058558	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10061165	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10074682	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10447144	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10462051	0.83[EUR][1000 genomes]
rs10473311	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10941640	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12332560	0.83[EUR][1000 genomes]
rs12651879	0.83[EUR][1000 genomes]
rs12659369	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12697452	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13185343	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13189004	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1389868	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1389869	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1428640	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2013173	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2131999	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2132000	0.95[EUR][1000 genomes]
rs2172763	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34007811	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35710460	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35881272	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36013953	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3776423	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3806870	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073848	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4073850	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4073851	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4242099	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4308491	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4331909	0.90[EUR][1000 genomes]
rs4367306	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4415083	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4467713	0.86[EUR][1000 genomes]
rs4513704	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4541663	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4576155	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4866746	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866833	0.89[EUR][1000 genomes]
rs55641556	0.85[EUR][1000 genomes]
rs56400900	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs57547662	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57597020	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6451692	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6451693	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6451695	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451696	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451698	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451704	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6451706	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6451712	0.84[EUR][1000 genomes]
rs6451718	0.81[AFR][1000 genomes]
rs67466542	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67581152	0.82[EUR][1000 genomes]
rs6858942	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6859344	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6861704	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6862102	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6865217	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6870018	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6870783	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883661	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73100614	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs750582	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs750584	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7703662	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7707976	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7708369	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7708443	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7717636	0.83[EUR][1000 genomes]
rs7724571	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7731091	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7734393	0.85[EUR][1000 genomes]
rs7735243	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9292883	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9686159	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9687341	0.82[EUR][1000 genomes]
rs9885467	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43444000-43482600	Weak transcription	HMEC	breast
3	chr5:43444200-43472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:43444800-43482600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:43448200-43471800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:43453800-43482600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:43454000-43482400	Weak transcription	Osteobl	bone
8	chr5:43454800-43482800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:43460400-43472600	Weak transcription	Fetal Kidney	kidney
10	chr5:43460600-43471600	Weak transcription	NHDF-Ad	bronchial
11	chr5:43460600-43472000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:43461000-43470000	Weak transcription	HSMMtube	muscle
13	chr5:43461000-43482400	Weak transcription	NHLF	lung
14	chr5:43461200-43482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
16	chr5:43461600-43469800	Weak transcription	HSMM	muscle
17	chr5:43462200-43474000	Weak transcription	Lung	lung
18	chr5:43462200-43482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:43462200-43482600	Weak transcription	Fetal Stomach	stomach
20	chr5:43462200-43482800	Weak transcription	Right Ventricle	heart
21	chr5:43462400-43483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:43462400-43483400	Weak transcription	Spleen	Spleen
23	chr5:43464200-43480000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:43465000-43470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:43465600-43481200	Weak transcription	HepG2	liver
26	chr5:43466200-43472800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:43467000-43482000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:43467000-43482800	Weak transcription	Primary T cells from cord blood	blood
29	chr5:43467200-43482800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:43467400-43471600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:43467600-43471600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:43467600-43482400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:43467800-43479800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:43467800-43482400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:43468000-43469600	Weak transcription	A549	lung
36	chr5:43468000-43471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:43468000-43475800	Weak transcription	Hela-S3	cervix
38	chr5:43468000-43476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:43468000-43476000	Weak transcription	NHEK	skin
40	chr5:43468000-43480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:43468000-43480200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:43468000-43482400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:43468000-43482600	Weak transcription	Adipose Nuclei	Adipose
44	chr5:43468000-43482800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:43468200-43469600	Weak transcription	Dnd41	blood
46	chr5:43468200-43470000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:43468200-43470000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:43468200-43471800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:43468200-43471800	Weak transcription	Primary B cells from cord blood	blood
50	chr5:43468200-43471800	Weak transcription	Primary B cells from peripheral blood	blood

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