Variant report

Variant	rs8017358
Chromosome Location	chr14:24525274-24525275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24523943..24525993-chr14:24563412..24565144,2	K562	blood:
2	chr14:24524745..24526605-chr14:24550189..24551764,2	K562	blood:
3	chr14:24523828..24526460-chr14:24582327..24585206,3	MCF-7	breast:
4	chr14:24523871..24526246-chr14:24529120..24532101,3	MCF-7	breast:
5	chr14:24523943..24525572-chr14:24562582..24565144,2	K562	blood:
6	chr14:24524905..24527196-chr14:24550609..24553434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100889	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100897	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11158525	0.93[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs11626841	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2877590	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62000819	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7146599	1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7148185	0.85[GIH][hapmap]
rs7152726	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
8	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8017358	ABHD4	cis	cerebellum	SCAN
rs8017358	SAG	trans	parietal	SCAN
rs8017358	LRRC16B	cis	cerebellum	SCAN
rs8017358	ARHGEF40	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24521800-24525800	Weak transcription	Liver	Liver
2	chr14:24522200-24526200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:24522200-24527400	Weak transcription	Gastric	stomach
4	chr14:24522200-24527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:24522200-24528000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:24522200-24529000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:24522200-24529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:24522200-24539400	Weak transcription	Right Atrium	heart
9	chr14:24522200-24541000	Weak transcription	Spleen	Spleen
10	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:24522400-24527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:24522400-24527600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:24522400-24534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:24522400-24540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:24523000-24529000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:24523000-24539600	Weak transcription	Brain Angular Gyrus	brain
18	chr14:24523000-24540800	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:24523200-24527800	Weak transcription	Fetal Intestine Small	intestine
20	chr14:24523200-24534200	Strong transcription	Brain Germinal Matrix	brain
21	chr14:24523200-24536200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:24523200-24537400	Strong transcription	Fetal Brain Female	brain
23	chr14:24523200-24541200	Weak transcription	Esophagus	oesophagus
24	chr14:24524000-24525400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:24524600-24527400	Weak transcription	Fetal Brain Male	brain
26	chr14:24525000-24526800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:24525000-24540200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:24525200-24539600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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