Variant report

Variant	rs11630879
Chromosome Location	chr15:78684051-78684052
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	chr15:78681164..78684060-chr15:78688806..78691444,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11635031	0.93[EUR][1000 genomes]
rs11635084	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635330	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8034354	0.96[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1052910	chr15:78608637-78707049	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1627	chr15:78683761-78728604	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11630879	SCAMP5	cis	cerebellum	SCAN
rs11630879	CTSH	cis	parietal	SCAN
rs11630879	TBC1D2B	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78667600-78704400	Weak transcription	Lung	lung
2	chr15:78680200-78684800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:78680400-78684800	Weak transcription	Fetal Brain Female	brain
4	chr15:78681200-78684400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:78681800-78688800	Weak transcription	Spleen	Spleen
6	chr15:78682000-78684600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:78682000-78684800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:78682200-78684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:78682200-78684400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:78682200-78684600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:78682200-78684600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:78682200-78687400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:78682200-78687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:78682200-78687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:78682200-78687600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:78682400-78684600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:78682400-78686000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:78682400-78686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr15:78682400-78686200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:78682400-78686400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:78682400-78687000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:78683200-78684200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr15:78683800-78687400	Weak transcription	Placenta	Placenta

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