Variant report

Variant	rs7512713
Chromosome Location	chr1:86069967-86069968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86044046..86050058-chr1:86065602..86074449,16	MCF-7	breast:
2	chr1:86067788..86069598-chr1:86069646..86072509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12756618	0.84[EUR][1000 genomes]
rs17127887	0.83[ASN][1000 genomes]
rs17127897	0.83[ASN][1000 genomes]
rs17127904	0.91[ASN][1000 genomes]
rs17127916	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs17127933	0.91[ASN][1000 genomes]
rs17127949	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127978	0.83[ASN][1000 genomes]
rs17127983	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17127986	0.83[ASN][1000 genomes]
rs17128041	1.00[JPT][hapmap]
rs17128078	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128287	1.00[JPT][hapmap]
rs17128290	1.00[JPT][hapmap]
rs34201212	1.00[EUR][1000 genomes]
rs35003186	1.00[EUR][1000 genomes]
rs35587534	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs35754509	1.00[EUR][1000 genomes]
rs35787923	1.00[EUR][1000 genomes]
rs36003479	1.00[EUR][1000 genomes]
rs6672587	0.83[ASN][1000 genomes]
rs6684769	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6699699	1.00[CEU][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71502515	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517469	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518036	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7519002	0.91[ASN][1000 genomes]
rs7540592	1.00[JPT][hapmap]
rs7550753	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9324150	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs9658588	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs9658592	0.91[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:86064000-86072600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:86065000-86071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:86065200-86071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:86065200-86072000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:86066600-86077000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:86068000-86074600	Enhancers	Fetal Intestine Small	intestine
9	chr1:86068200-86070600	Enhancers	Fetal Stomach	stomach
10	chr1:86068400-86072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:86068400-86072400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:86068400-86074800	Enhancers	Fetal Intestine Large	intestine
13	chr1:86068600-86070400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:86068800-86070000	Enhancers	HepG2	liver
15	chr1:86068800-86071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:86068800-86071400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:86068800-86071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:86068800-86072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:86068800-86072200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:86069000-86070000	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:86069000-86071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:86069000-86072000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:86069000-86072600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:86069400-86071200	Enhancers	Fetal Lung	lung
25	chr1:86069600-86070000	Enhancers	NHLF	lung
26	chr1:86069600-86070600	Enhancers	Fetal Kidney	kidney
27	chr1:86069800-86070000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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