Variant report

Variant	rs7236295
Chromosome Location	chr18:7690016-7690017
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7684763..7686884-chr18:7689927..7692256,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1470471	1.00[JPT][hapmap]
rs17473649	1.00[CHB][hapmap]
rs4121620	0.83[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs422656	1.00[CHB][hapmap]
rs4797301	1.00[CHB][hapmap]
rs4798586	1.00[CHB][hapmap]
rs4798587	0.89[GIH][hapmap]
rs4798590	1.00[CHB][hapmap]
rs582683	1.00[CHB][hapmap]
rs587215	1.00[CHB][hapmap]
rs587368	1.00[CHB][hapmap]
rs589371	1.00[CHB][hapmap]
rs599960	1.00[CHB][hapmap]
rs600533	1.00[JPT][hapmap]
rs608028	1.00[CHB][hapmap]
rs616019	1.00[CHB][hapmap]
rs624519	1.00[CHB][hapmap]
rs626015	1.00[CHB][hapmap]
rs640128	1.00[CHB][hapmap]
rs644399	1.00[CHB][hapmap]
rs649301	1.00[CHB][hapmap]
rs658744	1.00[CHB][hapmap]
rs658864	1.00[CHB][hapmap]
rs661828	1.00[CHB][hapmap]
rs678492	1.00[CHB][hapmap]
rs679539	1.00[CHB][hapmap]
rs689014	1.00[CHB][hapmap]
rs9947511	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs9953589	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv909358	chr18:7685307-7693309	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv458017	chr18:7689201-7747873	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv576420	chr18:7689201-7747873	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7236295	VAPA	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7683200-7696600	Weak transcription	Fetal Lung	lung
2	chr18:7684200-7693800	Weak transcription	Lung	lung
3	chr18:7684200-7696600	Weak transcription	Right Atrium	heart
4	chr18:7684200-7712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:7685200-7694000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:7686200-7691400	Weak transcription	Right Ventricle	heart
7	chr18:7688800-7698000	Weak transcription	Aorta	Aorta
8	chr18:7689000-7691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7689400-7690200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:7689400-7693800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:7689600-7690200	Weak transcription	Small Intestine	intestine
12	chr18:7689600-7693000	Weak transcription	Left Ventricle	heart
13	chr18:7689800-7690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:7689800-7690200	Weak transcription	Psoas Muscle	Psoas

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