Variant report

Variant	rs11635084
Chromosome Location	chr15:78686823-78686824
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	chr15:78686576..78687529-chr15:78715271..78715854,2	K562	blood:
2	chr15:78686256..78688855-chr15:78690068..78692853,2	K562	blood:

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

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

rs_ID	r²[population]
rs11630879	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635031	0.96[EUR][1000 genomes]
rs11635330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8034354	0.96[CEU][hapmap];0.93[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
rs11635084	TBC1D2B	cis	cerebellum	SCAN
rs11635084	CTSH	cis	parietal	SCAN
rs11635084	SCAMP5	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78667600-78704400	Weak transcription	Lung	lung
2	chr15:78681800-78688800	Weak transcription	Spleen	Spleen
3	chr15:78682200-78687400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:78682200-78687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:78682200-78687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:78682200-78687600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:78682400-78687000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:78683800-78687400	Weak transcription	Placenta	Placenta
9	chr15:78685200-78687200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:78685200-78687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:78685200-78687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:78686000-78688600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr15:78686000-78688600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:78686200-78687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr15:78686200-78687200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr15:78686200-78687800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr15:78686200-78688400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr15:78686400-78688400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr15:78686400-78689400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr15:78686600-78687400	Enhancers	Fetal Intestine Large	intestine
21	chr15:78686600-78688200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:78686600-78688400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:78686800-78687000	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:78686800-78687200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:78686800-78687600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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