Variant report

Variant	rs2303070
Chromosome Location	chr5:147499891-147499892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10059165	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060151	0.82[CEU][hapmap]
rs12657423	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657808	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12657979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659942	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17107747	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17107754	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17107762	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17107763	1.00[CEU][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1862440	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1862441	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1862442	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1862443	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287765	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287766	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287767	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287769	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287770	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34225415	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34975049	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35655863	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777142	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3815738	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3815739	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3815740	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3815741	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41291433	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55816145	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55862047	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58154955	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58451856	0.91[EUR][1000 genomes]
rs58670387	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59220312	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59946480	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60283517	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60763631	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61600033	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6883062	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6887442	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72660256	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72660257	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72660258	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72660259	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72660260	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72660261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72660262	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72660263	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72660264	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72660265	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73794671	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73794672	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73794676	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9325070	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9325072	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791022	0.82[ASW][hapmap];0.85[CEU][hapmap];0.84[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.83[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:24 , 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	chr5:147470600-147508400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:147470600-147509000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:147471600-147514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:147472000-147505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:147474200-147513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:147479000-147500600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:147481400-147513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:147481600-147505000	Weak transcription	Esophagus	oesophagus
10	chr5:147482200-147509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:147486800-147515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:147487400-147505000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:147487800-147525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:147494000-147500400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:147495000-147500200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:147496200-147501600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:147497200-147500400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr5:147497200-147501200	Weak transcription	Hela-S3	cervix
19	chr5:147497800-147500200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:147498800-147513000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:147499200-147500200	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:147499600-147500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:147499600-147500200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr5:147499600-147500200	Enhancers	Brain Substantia Nigra	brain

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