Variant report

Variant	rs11158525
Chromosome Location	chr14:24523594-24523595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:24523485-24523831	HepG2	liver:	n/a	n/a
2	REST	chr14:24523542-24523753	PANC-1	pancreas:	n/a	n/a
3	REST	chr14:24523576-24523789	K562	blood:	n/a	n/a
4	REST	chr14:24523557-24523745	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24519494..24523801-chr14:24562244..24565641,8	MCF-7	breast:
2	chr14:24523011..24525249-chr14:24526454..24529124,3	K562	blood:
3	chr14:24521386..24523883-chr14:24578349..24580057,2	MCF-7	breast:
4	chr14:24522487..24524225-chr14:24539392..24540998,2	K562	blood:

No data

Variant related genes	Relation type
LRRC16B	TF binding region
ENSG00000100884	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100889	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11626841	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2877590	0.92[EUR][1000 genomes]
rs62000819	0.94[EUR][1000 genomes]
rs6573541	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146599	0.82[GIH][hapmap]
rs7148185	0.85[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7152726	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8017358	0.93[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs9972282	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv564047	chr14:24428509-24525634	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv983808	chr14:24503854-24523979	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	nsv1036658	chr14:24513905-24555710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11158525	LRRC16B	cis	cerebellum	SCAN
rs11158525	SAG	trans	parietal	SCAN
rs11158525	YME1L1	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24521800-24525800	Weak transcription	Liver	Liver
2	chr14:24522000-24523600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:24522200-24523600	Enhancers	Fetal Brain Male	brain
4	chr14:24522200-24524000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:24522200-24526200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:24522200-24527400	Weak transcription	Gastric	stomach
7	chr14:24522200-24527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:24522200-24528000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:24522200-24529000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:24522200-24529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:24522200-24539400	Weak transcription	Right Atrium	heart
12	chr14:24522200-24541000	Weak transcription	Spleen	Spleen
13	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:24522400-24524000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:24522400-24527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:24522400-24527600	Weak transcription	Brain Anterior Caudate	brain
18	chr14:24522400-24534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:24522400-24540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:24522600-24524800	Weak transcription	Dnd41	blood
21	chr14:24523000-24524400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:24523000-24529000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:24523000-24539600	Weak transcription	Brain Angular Gyrus	brain
24	chr14:24523000-24540800	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:24523200-24527800	Weak transcription	Fetal Intestine Small	intestine
26	chr14:24523200-24534200	Strong transcription	Brain Germinal Matrix	brain
27	chr14:24523200-24536200	Weak transcription	Brain Substantia Nigra	brain
28	chr14:24523200-24537400	Strong transcription	Fetal Brain Female	brain
29	chr14:24523200-24541200	Weak transcription	Esophagus	oesophagus
30	chr14:24523400-24524000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:24523400-24525000	Strong transcription	Brain Inferior Temporal Lobe	brain

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