Variant report

Variant	rs7244365
Chromosome Location	chr18:9640213-9640214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9612700..9615548-chr18:9635464..9640356,8	MCF-7	breast:
2	chr18:9638763..9640790-chr18:9660226..9661801,2	MCF-7	breast:
3	chr18:9639081..9640947-chr18:9773885..9776547,2	K562	blood:
4	chr18:9630794..9635395-chr18:9635739..9640579,6	MCF-7	breast:
5	chr18:9637061..9640955-chr18:9641542..9645147,4	MCF-7	breast:
6	chr18:9612039..9617302-chr18:9635697..9643000,12	MCF-7	breast:
7	chr18:9639241..9642046-chr18:9644579..9646156,2	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1869737	0.82[CHD][hapmap]
rs689223	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs7231531	0.82[CHD][hapmap]
rs7238204	0.90[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7244365	VAPA	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9628000-9642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr18:9631200-9642000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:9632400-9647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:9637800-9640600	Weak transcription	Placenta	Placenta
5	chr18:9638000-9641800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:9639000-9648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:9639200-9640600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:9639200-9642000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr18:9639200-9642400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:9639200-9642600	Weak transcription	NH-A	brain
11	chr18:9639200-9642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:9639200-9643000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr18:9639200-9663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:9639400-9641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:9639400-9641000	Weak transcription	NHLF	lung
16	chr18:9639400-9641600	Weak transcription	HMEC	breast
17	chr18:9639400-9642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr18:9639400-9642600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:9639400-9642800	Weak transcription	Osteobl	bone
20	chr18:9639400-9643000	Weak transcription	A549	lung
21	chr18:9639600-9640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:9639600-9641000	Weak transcription	NHEK	skin
23	chr18:9639600-9641600	Weak transcription	NHDF-Ad	bronchial
24	chr18:9639600-9642200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:9639600-9642600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr18:9639600-9643000	Weak transcription	HUVEC	blood vessel
27	chr18:9640000-9641000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:9640200-9640400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:9640200-9640600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr18:9640200-9640800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr18:9640200-9641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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