Variant report

Variant	rs6463448
Chromosome Location	chr7:47839846-47839847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10231581	0.81[ASN][1000 genomes]
rs11760486	0.82[CHD][hapmap]
rs11760871	0.82[ASN][1000 genomes]
rs12702389	0.82[ASN][1000 genomes]
rs12702390	1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs1551277	0.95[CHB][hapmap]
rs2348459	1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs3926198	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724641	0.82[CHD][hapmap]
rs4724642	0.82[CHD][hapmap]
rs4724644	0.95[CHB][hapmap]
rs5022192	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6463447	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs6943728	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6962348	0.88[ASN][1000 genomes]
rs7801465	1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs965143	1.00[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs965144	0.82[ASN][1000 genomes]
rs9719534	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6463448	VWC2	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
4	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
5	chr7:47826600-47844000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:47827600-47842000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:47827600-47844400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:47827600-47845800	Weak transcription	Fetal Stomach	stomach
10	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:47835400-47845800	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:47836200-47843400	Weak transcription	A549	lung
13	chr7:47836200-47844400	Weak transcription	NH-A	brain
14	chr7:47836200-47844600	Weak transcription	Ovary	ovary
15	chr7:47836400-47844400	Weak transcription	NHLF	lung
16	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:47838800-47847800	Enhancers	HepG2	liver
18	chr7:47839000-47840000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:47839200-47841200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:47839200-47845800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:47839400-47840600	Weak transcription	Esophagus	oesophagus
22	chr7:47839400-47843200	Weak transcription	HSMM	muscle
23	chr7:47839600-47840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:47839800-47840000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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