Variant report

Variant	rs2189563
Chromosome Location	chr7:80929623-80929624
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80546874..80550922-chr7:80925118..80930424,9	MCF-7	breast:
2	chr7:80506062..80508218-chr7:80928022..80930823,2	MCF-7	breast:
3	chr7:80926765..80932056-chr7:80932265..80936862,6	MCF-7	breast:
4	chr7:80541697..80545590-chr7:80928288..80931909,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10241623	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241793	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245449	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254331	1.00[ASN][1000 genomes]
rs10275669	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761451	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770496	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771361	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773641	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707335	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707337	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707338	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229188	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246684	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247272	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397014	1.00[ASN][1000 genomes]
rs1509914	1.00[ASN][1000 genomes]
rs1509915	1.00[ASN][1000 genomes]
rs1509916	1.00[ASN][1000 genomes]
rs17154960	1.00[ASN][1000 genomes]
rs17154968	1.00[ASN][1000 genomes]
rs17154971	1.00[ASN][1000 genomes]
rs17154974	1.00[ASN][1000 genomes]
rs17154980	1.00[ASN][1000 genomes]
rs17155004	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155008	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17625910	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1848788	1.00[ASN][1000 genomes]
rs1848789	1.00[ASN][1000 genomes]
rs1848790	1.00[ASN][1000 genomes]
rs1912365	1.00[ASN][1000 genomes]
rs2136609	1.00[ASN][1000 genomes]
rs2189564	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214550	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2262987	1.00[ASN][1000 genomes]
rs2262988	1.00[ASN][1000 genomes]
rs2525775	1.00[ASN][1000 genomes]
rs2525778	1.00[ASN][1000 genomes]
rs2525781	1.00[ASN][1000 genomes]
rs2525782	1.00[ASN][1000 genomes]
rs2525783	1.00[ASN][1000 genomes]
rs2525785	1.00[ASN][1000 genomes]
rs2525786	1.00[ASN][1000 genomes]
rs2525788	1.00[ASN][1000 genomes]
rs2525789	1.00[ASN][1000 genomes]
rs2525790	1.00[ASN][1000 genomes]
rs2525794	1.00[ASN][1000 genomes]
rs2664840	1.00[ASN][1000 genomes]
rs2664842	1.00[ASN][1000 genomes]
rs2664843	1.00[ASN][1000 genomes]
rs2664844	1.00[ASN][1000 genomes]
rs2664847	1.00[ASN][1000 genomes]
rs2664849	1.00[ASN][1000 genomes]
rs2839799	1.00[ASN][1000 genomes]
rs325977	1.00[ASN][1000 genomes]
rs325978	1.00[ASN][1000 genomes]
rs325979	1.00[ASN][1000 genomes]
rs325980	1.00[ASN][1000 genomes]
rs325983	1.00[ASN][1000 genomes]
rs325985	1.00[ASN][1000 genomes]
rs325988	1.00[ASN][1000 genomes]
rs34317276	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35315784	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35786870	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57688291	1.00[ASN][1000 genomes]
rs57801190	1.00[ASN][1000 genomes]
rs58355397	1.00[ASN][1000 genomes]
rs58557721	1.00[ASN][1000 genomes]
rs59574622	1.00[ASN][1000 genomes]
rs59748947	1.00[ASN][1000 genomes]
rs60587791	1.00[ASN][1000 genomes]
rs60806663	1.00[ASN][1000 genomes]
rs61420690	1.00[ASN][1000 genomes]
rs61705873	1.00[ASN][1000 genomes]
rs6944017	1.00[ASN][1000 genomes]
rs6956118	1.00[ASN][1000 genomes]
rs6957571	1.00[ASN][1000 genomes]
rs6963937	1.00[ASN][1000 genomes]
rs6973407	1.00[ASN][1000 genomes]
rs6976487	1.00[ASN][1000 genomes]
rs6979842	1.00[ASN][1000 genomes]
rs6979856	1.00[ASN][1000 genomes]
rs73380421	1.00[ASN][1000 genomes]
rs73380423	1.00[ASN][1000 genomes]
rs73380440	1.00[ASN][1000 genomes]
rs73380442	1.00[ASN][1000 genomes]
rs73380451	1.00[ASN][1000 genomes]
rs73380464	1.00[ASN][1000 genomes]
rs73382432	1.00[ASN][1000 genomes]
rs73709691	1.00[ASN][1000 genomes]
rs7783631	1.00[ASN][1000 genomes]
rs7785746	1.00[ASN][1000 genomes]
rs7790316	0.91[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792835	1.00[ASN][1000 genomes]
rs7812268	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976329	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv464608	chr7:80866153-80938045	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv607687	chr7:80866153-80938045	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv607688	chr7:80870379-80947517	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 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	chr7:80925800-80932800	Enhancers	Fetal Intestine Large	intestine
2	chr7:80926200-80930200	Enhancers	Osteobl	bone
3	chr7:80926200-80930400	Enhancers	NHDF-Ad	bronchial
4	chr7:80926400-80930400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:80927400-80931600	Enhancers	Hela-S3	cervix
6	chr7:80927600-80929800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:80927600-80930000	Enhancers	HMEC	breast
8	chr7:80927600-80930000	Enhancers	NHLF	lung
9	chr7:80927800-80933200	Enhancers	Fetal Intestine Small	intestine
10	chr7:80928000-80930000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:80928000-80930000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:80928000-80930000	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:80928200-80929800	Flanking Active TSS	A549	lung
14	chr7:80928200-80930200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr7:80928200-80930400	Enhancers	HSMM	muscle
16	chr7:80928400-80929800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:80928400-80930000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:80928600-80930200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:80928800-80929800	Enhancers	HUVEC	blood vessel
20	chr7:80928800-80929800	Enhancers	NHEK	skin
21	chr7:80929000-80929800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:80929000-80930000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:80929000-80930000	Enhancers	HSMMtube	muscle
24	chr7:80929000-80930200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:80929000-80930400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:80929000-80930600	Enhancers	Stomach Mucosa	stomach
27	chr7:80929200-80930000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:80929200-80930000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:80929200-80930000	Enhancers	NH-A	brain
30	chr7:80929200-80932200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:80929400-80930000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:80929400-80930200	Enhancers	Colon Smooth Muscle	Colon
33	chr7:80929400-80930600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:80929400-80938000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:80929600-80930400	Enhancers	Small Intestine	intestine
36	chr7:80929600-80931000	Weak transcription	Fetal Lung	lung

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