Variant report

Variant	rs9540978
Chromosome Location	chr13:67611241-67611242
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	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12867574	0.80[ASN][1000 genomes]
rs12875136	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1323903	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs155016	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17791062	0.82[ASN][1000 genomes]
rs2181753	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2325020	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs260136	0.82[ASN][1000 genomes]
rs260150	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs260152	0.87[ASN][1000 genomes]
rs260153	0.88[ASN][1000 genomes]
rs260156	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs260166	0.85[ASN][1000 genomes]
rs9317635	0.80[EUR][1000 genomes]
rs9529172	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9529173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9529175	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9529176	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9529177	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9540972	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9540973	0.82[EUR][1000 genomes]
rs9540991	0.80[EUR][1000 genomes]
rs9571707	0.84[ASN][1000 genomes]
rs9571708	0.80[ASN][1000 genomes]
rs9571712	0.81[EUR][1000 genomes]

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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67610400-67611400	Active TSS	Brain Substantia Nigra	brain
2	chr13:67610400-67611600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:67610600-67611400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:67610800-67611400	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr13:67610800-67611400	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr13:67610800-67611400	Active TSS	Fetal Kidney	kidney
7	chr13:67610800-67611600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:67610800-67612400	Enhancers	Fetal Lung	lung
9	chr13:67611000-67611400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:67611000-67611600	Active TSS	Right Atrium	heart
11	chr13:67611200-67611400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:67611200-67611600	Active TSS	Brain Anterior Caudate	brain
13	chr13:67611200-67612000	Enhancers	Brain Angular Gyrus	brain
14	chr13:67611200-67612800	Weak transcription	Brain Inferior Temporal Lobe	brain

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