Variant report

Variant	rs1015573
Chromosome Location	chr7:50881795-50881796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1014384	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10226937	0.81[ASN][1000 genomes]
rs10231012	0.84[ASN][1000 genomes]
rs10235345	0.84[ASN][1000 genomes]
rs10239268	0.84[ASN][1000 genomes]
rs10248029	0.81[ASN][1000 genomes]
rs10273302	0.84[ASN][1000 genomes]
rs10276986	0.84[ASN][1000 genomes]
rs10464765	0.83[ASN][1000 genomes]
rs10464766	0.83[ASN][1000 genomes]
rs10464790	0.83[ASN][1000 genomes]
rs10486761	0.85[JPT][hapmap]
rs11238325	0.83[ASN][1000 genomes]
rs11238326	0.80[ASW][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11238337	0.80[ASW][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11238339	0.84[ASN][1000 genomes]
rs11974751	0.81[ASN][1000 genomes]
rs11978750	0.81[ASN][1000 genomes]
rs11983539	0.80[ASW][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12671577	0.82[AFR][1000 genomes]
rs12674028	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12718925	0.83[ASN][1000 genomes]
rs12718926	0.83[ASN][1000 genomes]
rs12718927	0.83[ASN][1000 genomes]
rs12718929	0.83[ASN][1000 genomes]
rs12718930	0.83[ASN][1000 genomes]
rs13232029	0.82[AFR][1000 genomes]
rs1859571	0.81[ASN][1000 genomes]
rs2006915	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2006926	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2051895	0.81[ASN][1000 genomes]
rs2051896	0.81[ASN][1000 genomes]
rs2158670	0.84[ASN][1000 genomes]
rs2329554	0.84[ASN][1000 genomes]
rs6593164	0.86[ASW][hapmap];0.85[JPT][hapmap]
rs6593174	0.90[JPT][hapmap]
rs6593180	0.81[ASN][1000 genomes]
rs6593200	0.89[ASN][1000 genomes]
rs6943901	0.80[ASW][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6957007	0.84[ASN][1000 genomes]
rs6958750	0.81[ASN][1000 genomes]
rs6963498	0.80[ASW][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6971834	0.80[ASW][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6979369	0.85[JPT][hapmap]
rs757773	0.85[JPT][hapmap]
rs757774	0.80[ASW][hapmap];0.84[JPT][hapmap]
rs757777	0.84[ASN][1000 genomes]
rs7786917	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7788511	0.84[ASN][1000 genomes]
rs7791286	0.80[ASW][hapmap]
rs7802338	0.84[ASN][1000 genomes]
rs7803278	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription 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	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1015573	DDC	cis	parietal	SCAN
rs1015573	LOC100129427	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50879200-50882400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:50879400-50882000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:50879400-50882400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:50879400-50882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:50879400-50882600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:50879600-50882400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:50879600-50882400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:50879800-50882000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:50879800-50882400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:50879800-50882400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:50879800-50882400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:50880000-50882400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:50880800-50885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50880800-50889000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:50880800-50889000	Weak transcription	Osteobl	bone
17	chr7:50880800-50894600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:50881000-50882000	Weak transcription	K562	blood
19	chr7:50881000-50885800	Weak transcription	NH-A	brain
20	chr7:50881200-50882200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:50881200-50882800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:50881200-50885000	Weak transcription	HUVEC	blood vessel
23	chr7:50881200-50889000	Weak transcription	Pancreas	Pancrea
24	chr7:50881400-50887000	Weak transcription	Hela-S3	cervix
25	chr7:50881600-50883200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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