Variant report

Variant	rs694335
Chromosome Location	chr15:59050897-59050898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:59050760-59050910	NHDF-neo	bronchial:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59049338..59052129-chr15:59052697..59054874,3	K562	blood:
2	chr15:58520072..58520665-chr15:59050085..59050929,2	MCF-7	breast:
3	chr15:59048564..59050956-chr15:59058721..59061333,2	K562	blood:
4	chr15:58519596..58520483-chr15:59049894..59051015,4	MCF-7	breast:
5	chr15:59040723..59043595-chr15:59050173..59052716,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259173	TF binding region
ENSG00000200318	Chromatin interaction
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10851639	0.80[LWK][hapmap];0.81[YRI][hapmap]
rs11071396	0.83[CEU][hapmap];0.95[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11852241	0.93[ASN][1000 genomes]
rs12437552	0.95[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap]
rs12438114	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs12439189	0.95[MKK][hapmap]
rs1427280	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs17236243	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2114573	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2414606	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2414607	0.91[CHB][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs28391588	0.93[GIH][hapmap];0.85[MEX][hapmap]
rs3933541	0.81[ASN][1000 genomes]
rs394845	0.87[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs406699	0.89[EUR][1000 genomes]
rs447299	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4774309	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap]
rs655348	0.93[ASN][1000 genomes]
rs681711	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7168275	0.93[ASN][1000 genomes]
rs7173286	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7176436	0.88[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs7179724	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap]
rs7182060	0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap]
rs8027998	0.93[GIH][hapmap];0.85[MEX][hapmap]
rs8036097	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs9646204	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs694335	CCPG1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59042600-59062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas
3	chr15:59047600-59052200	Weak transcription	Fetal Thymus	thymus
4	chr15:59050800-59051000	Enhancers	A549	lung

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