Variant report

Variant	rs73067657
Chromosome Location	chr1:196376666-196376667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10733085	1.00[EUR][1000 genomes]
rs10754186	1.00[EUR][1000 genomes]
rs11810886	1.00[EUR][1000 genomes]
rs1339953	1.00[EUR][1000 genomes]
rs57259842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57291296	1.00[EUR][1000 genomes]
rs57375190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59464070	1.00[EUR][1000 genomes]
rs59564010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60858311	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61005987	1.00[EUR][1000 genomes]
rs6676437	1.00[EUR][1000 genomes]
rs6676634	1.00[EUR][1000 genomes]
rs6682755	1.00[EUR][1000 genomes]
rs6684014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701301	1.00[EUR][1000 genomes]
rs6701566	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6702372	1.00[EUR][1000 genomes]
rs73063979	1.00[EUR][1000 genomes]
rs73067641	1.00[EUR][1000 genomes]
rs73067647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067650	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067655	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067663	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067664	1.00[EUR][1000 genomes]
rs73067676	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067680	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067681	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73067684	1.00[EUR][1000 genomes]
rs73067685	1.00[EUR][1000 genomes]
rs73067688	1.00[EUR][1000 genomes]
rs73067689	1.00[EUR][1000 genomes]
rs73067702	1.00[EUR][1000 genomes]
rs73069708	1.00[EUR][1000 genomes]
rs73069711	1.00[EUR][1000 genomes]
rs73069713	1.00[EUR][1000 genomes]
rs73069718	1.00[EUR][1000 genomes]
rs73069736	1.00[EUR][1000 genomes]
rs73069738	1.00[EUR][1000 genomes]
rs73069741	1.00[EUR][1000 genomes]
rs73069743	1.00[EUR][1000 genomes]
rs73069750	1.00[EUR][1000 genomes]
rs73069787	1.00[EUR][1000 genomes]
rs73069791	1.00[EUR][1000 genomes]
rs73069796	1.00[EUR][1000 genomes]
rs7523390	1.00[EUR][1000 genomes]
rs7531235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9659561	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9662866	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9728591	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469680	chr1:196259846-196419016	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv482746	chr1:196259846-196419016	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv872953	chr1:196286639-196411281	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872954	chr1:196304863-196387809	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv548742	chr1:196339655-196391866	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv872956	chr1:196339655-196411281	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv872957	chr1:196347066-196411281	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196343400-196377200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:196358000-196393800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:196370800-196376800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:196372600-196383800	Weak transcription	Liver	Liver
5	chr1:196375200-196377200	Weak transcription	Hela-S3	cervix
6	chr1:196375200-196377400	Enhancers	HepG2	liver
7	chr1:196375600-196377200	Enhancers	Small Intestine	intestine
8	chr1:196375600-196377600	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:196375600-196378200	Enhancers	Fetal Kidney	kidney
10	chr1:196375800-196377000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:196375800-196377400	Enhancers	Fetal Stomach	stomach
12	chr1:196375800-196377600	Enhancers	Fetal Lung	lung
13	chr1:196375800-196377600	Enhancers	NH-A	brain
14	chr1:196375800-196377800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:196375800-196378200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:196376000-196377400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:196376000-196377400	Enhancers	Ovary	ovary
18	chr1:196376000-196377400	Enhancers	Osteobl	bone
19	chr1:196376000-196378400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:196376200-196377600	Enhancers	Colon Smooth Muscle	Colon
21	chr1:196376400-196376800	Enhancers	HSMM	muscle
22	chr1:196376400-196377400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:196376400-196377600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:196376600-196377200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:196376600-196377200	Weak transcription	NHLF	lung
26	chr1:196376600-196377400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:196376600-196377400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:196376600-196377400	Enhancers	Adipose Nuclei	Adipose
29	chr1:196376600-196379400	Enhancers	HUVEC	blood vessel

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