Variant report

Variant	rs60763631
Chromosome Location	chr5:147513178-147513179
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	chr5:147511830..147514610-chr5:147516441..147519250,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10059165	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12657423	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12657808	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12657979	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659942	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107747	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107754	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107762	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107763	0.84[EUR][1000 genomes]
rs1862440	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862441	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862442	0.80[EUR][1000 genomes]
rs1862443	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287765	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287766	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287767	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287769	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287770	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2303070	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34225415	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34975049	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35655863	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3777142	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3815738	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3815739	0.84[EUR][1000 genomes]
rs3815740	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3815741	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41291433	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55816145	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55862047	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58154955	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58451856	0.80[EUR][1000 genomes]
rs58670387	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59220312	0.80[EUR][1000 genomes]
rs59946480	0.80[EUR][1000 genomes]
rs60283517	0.80[EUR][1000 genomes]
rs61600033	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6883062	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6887442	0.82[EUR][1000 genomes]
rs72660256	0.80[EUR][1000 genomes]
rs72660257	0.80[EUR][1000 genomes]
rs72660258	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72660259	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72660260	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72660261	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72660262	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72660263	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72660264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72660265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73794671	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73794672	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73794676	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9325072	0.87[EUR][1000 genomes];0.95[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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147470400-147518400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:147471600-147514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:147474200-147513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:147481400-147513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:147486800-147515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:147487800-147525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:147500200-147513200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:147500400-147516000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:147502400-147526000	Weak transcription	Hela-S3	cervix
10	chr5:147505400-147514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:147507400-147521000	Weak transcription	Esophagus	oesophagus
12	chr5:147508600-147515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:147509200-147518400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:147511000-147514600	Weak transcription	Stomach Mucosa	stomach
15	chr5:147512000-147513200	Weak transcription	Fetal Intestine Large	intestine
16	chr5:147512000-147513600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:147512000-147514600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:147512000-147515800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:147512400-147516400	Enhancers	Fetal Intestine Small	intestine
20	chr5:147513000-147513600	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr5:147513000-147515400	Enhancers	Rectal Mucosa Donor 31	rectum

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