Variant report

Variant	rs4730345
Chromosome Location	chr7:78138542-78138543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10257560	0.81[EUR][1000 genomes]
rs1030015	0.84[MEX][hapmap];0.81[TSI][hapmap]
rs10447824	0.82[JPT][hapmap]
rs1154780	0.81[JPT][hapmap]
rs11978045	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1468774	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1468775	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2110630	0.89[ASW][hapmap];0.82[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2192649	0.81[AFR][1000 genomes]
rs28522615	0.84[ASN][1000 genomes]
rs28597728	0.84[ASN][1000 genomes]
rs4421288	0.81[AFR][1000 genomes]
rs4730342	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs4730343	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6466258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs724914	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7787798	0.82[AFR][1000 genomes]
rs7789112	0.87[YRI][hapmap]
rs7790347	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7799685	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7805441	0.82[ASW][hapmap];0.87[YRI][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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv607655	chr7:78134864-78148980	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4730345	WBSCR16	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78119600-78145600	Weak transcription	Ovary	ovary
2	chr7:78122600-78143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:78126200-78143800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:78127800-78140000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:78128200-78144000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:78128200-78145800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:78128400-78142600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:78128400-78144000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:78128400-78144000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:78128600-78140200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:78128600-78142600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:78128600-78145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:78128800-78158400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:78129000-78144000	Weak transcription	Pancreas	Pancrea
15	chr7:78129800-78140000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:78130800-78139800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:78131200-78144400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:78136800-78140200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:78138400-78161800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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