Variant report

Variant	rs7519952
Chromosome Location	chr1:94152739-94152740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94151003..94153408-chr1:94159847..94162420,2	MCF-7	breast:
2	chr1:94146482..94150220-chr1:94152045..94154250,3	MCF-7	breast:
3	chr1:94150767..94155477-chr1:94157317..94159691,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1011903	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1011904	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11164961	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11164962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11164963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12057736	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12059154	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12079723	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084853	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12092517	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1292929	0.90[ASN][1000 genomes]
rs1567791	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs236284	0.90[ASN][1000 genomes]
rs236285	0.90[ASN][1000 genomes]
rs236287	0.90[ASN][1000 genomes]
rs236288	0.90[ASN][1000 genomes]
rs236291	0.90[ASN][1000 genomes]
rs236292	0.88[ASN][1000 genomes]
rs236301	0.90[ASN][1000 genomes]
rs61781002	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6541386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6541387	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6541388	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6541389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6656270	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6657709	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6660740	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6675484	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6684568	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6694536	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6701871	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6702036	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6704479	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs955470	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9659100	0.83[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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94147800-94153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94148200-94154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94148200-94154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:94148200-94155200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:94148200-94156800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:94148200-94156800	Weak transcription	NHLF	lung
7	chr1:94148200-94167200	Weak transcription	Right Atrium	heart
8	chr1:94148400-94156200	Weak transcription	HSMM	muscle
9	chr1:94148400-94156600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:94148400-94156800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94148800-94156400	Weak transcription	HMEC	breast
12	chr1:94150400-94156000	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:94151200-94153600	Enhancers	Hela-S3	cervix
14	chr1:94151800-94152800	Enhancers	HepG2	liver
15	chr1:94152200-94152800	Enhancers	NHEK	skin
16	chr1:94152200-94154600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:94152200-94155200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:94152200-94155400	Weak transcription	Placenta	Placenta
19	chr1:94152200-94159000	Enhancers	Fetal Intestine Small	intestine
20	chr1:94152400-94155200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:94152400-94155200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:94152400-94157200	Weak transcription	Small Intestine	intestine
23	chr1:94152600-94152800	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:94152600-94155000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:94152600-94155200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:94152600-94155200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94152600-94155200	Weak transcription	A549	lung
28	chr1:94152600-94155200	Weak transcription	GM12878-XiMat	blood
29	chr1:94152600-94155400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:94152600-94156400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:94152600-94156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:94152600-94156800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:94152600-94156800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:94152600-94157400	Weak transcription	HUVEC	blood vessel

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