Variant report

Variant	rs7983216
Chromosome Location	chr13:67611174-67611175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17082025	0.87[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17082106	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs17195224	0.87[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17517037	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17517404	1.00[JPT][hapmap]
rs17517922	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17589160	1.00[JPT][hapmap]
rs1927823	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1927825	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2181880	0.83[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2209902	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs260172	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28623094	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55794233	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55817952	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56064337	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57847182	0.88[ASN][1000 genomes]
rs58842129	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58854798	0.89[EUR][1000 genomes]
rs73211165	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73211167	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73211168	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7329084	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7336507	0.87[CEU][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7991921	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9317636	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs9592497	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9592498	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9599171	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9599172	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9599173	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9599174	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9599176	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9599180	0.82[ASN][1000 genomes]
rs9599182	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs9599183	1.00[JPT][hapmap]
rs9599184	1.00[JPT][hapmap]
rs9599188	1.00[JPT][hapmap]
rs9805506	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv832640	chr13:67460304-67635966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv428604	chr13:67480426-67645030	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900414	chr13:67515590-67701341	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1045093	chr13:67517932-67693875	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv541821	chr13:67517932-67693875	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67610400-67611200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr13:67610400-67611400	Active TSS	Brain Substantia Nigra	brain
3	chr13:67610400-67611600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:67610600-67611200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:67610600-67611400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:67610800-67611200	Flanking Active TSS	Brain Angular Gyrus	brain
7	chr13:67610800-67611200	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr13:67610800-67611200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:67610800-67611200	Enhancers	Fetal Brain Male	brain
10	chr13:67610800-67611400	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr13:67610800-67611400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr13:67610800-67611400	Active TSS	Fetal Kidney	kidney
13	chr13:67610800-67611600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:67610800-67612400	Enhancers	Fetal Lung	lung
15	chr13:67611000-67611200	Enhancers	Fetal Stomach	stomach
16	chr13:67611000-67611400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:67611000-67611600	Active TSS	Right Atrium	heart

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