Variant report

Variant	rs12025737
Chromosome Location	chr1:185077564-185077565
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10737256	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10752945	0.90[ASN][1000 genomes]
rs10797999	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10911678	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10911680	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11588646	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12030554	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12081098	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12566975	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1322646	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1407555	0.94[ASN][1000 genomes]
rs1407556	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1407557	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1884447	0.93[ASN][1000 genomes]
rs2057222	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2146329	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3753569	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4549995	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6424971	0.95[ASN][1000 genomes]
rs6674490	0.86[AMR][1000 genomes]
rs6700484	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7519019	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7547420	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
2	chr1:185054400-185101800	Weak transcription	A549	lung
3	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
4	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:185058600-185089000	Weak transcription	Ovary	ovary
7	chr1:185058800-185093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:185065800-185088600	Weak transcription	NHDF-Ad	bronchial
10	chr1:185067600-185078400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:185067800-185095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:185068600-185078200	Weak transcription	K562	blood
14	chr1:185069400-185079800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:185069400-185091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:185069600-185088200	Weak transcription	Fetal Lung	lung
17	chr1:185070000-185101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:185070200-185088800	Weak transcription	HSMM	muscle
19	chr1:185070400-185089200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:185073600-185088200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:185073600-185092800	Weak transcription	Fetal Kidney	kidney
22	chr1:185073600-185115000	Weak transcription	NH-A	brain
23	chr1:185073800-185088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:185073800-185088600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:185074000-185088600	Weak transcription	NHLF	lung
26	chr1:185077000-185078800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:185077400-185088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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