Variant report

Variant	rs12447045
Chromosome Location	chr16:71914617-71914618
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71914335-71914637	GM12878	blood:	n/a	n/a
2	MAX	chr16:71914169-71915286	NB4	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71841228..71843526-chr16:71913894..71915716,2	K562	blood:
2	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
3	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
4	chr16:71913385..71915141-chr16:71927812..71929318,2	MCF-7	breast:
5	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
6	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:

No data

Variant related genes	Relation type
IST1	TF binding region
ZNF821	TF binding region
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11075908	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075910	0.93[YRI][hapmap]
rs11075911	0.86[EUR][1000 genomes]
rs11648353	0.85[EUR][1000 genomes]
rs11648530	0.86[EUR][1000 genomes]
rs11649672	0.91[EUR][1000 genomes]
rs11859903	1.00[JPT][hapmap]
rs12102548	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444829	0.93[EUR][1000 genomes]
rs12449139	0.93[EUR][1000 genomes]
rs12599192	0.87[EUR][1000 genomes]
rs12921084	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12926041	0.89[EUR][1000 genomes]
rs12926300	0.87[EUR][1000 genomes]
rs12930744	0.85[EUR][1000 genomes]
rs12935795	0.84[EUR][1000 genomes]
rs13329779	0.95[EUR][1000 genomes]
rs17286411	0.93[YRI][hapmap]
rs1834034	0.94[EUR][1000 genomes]
rs1834035	0.95[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs1981874	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008675	0.83[EUR][1000 genomes]
rs2018384	0.91[EUR][1000 genomes]
rs2288029	0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288030	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs2288031	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335709	0.93[EUR][1000 genomes]
rs2335710	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335711	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335712	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335713	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335714	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335715	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28697038	0.91[EUR][1000 genomes]
rs2878492	0.86[EUR][1000 genomes]
rs3794692	0.93[EUR][1000 genomes]
rs4788446	0.81[EUR][1000 genomes]
rs4788447	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788449	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788561	0.80[AFR][1000 genomes]
rs4788562	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788563	0.87[EUR][1000 genomes]
rs4788564	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788566	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788568	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs4788569	0.81[AFR][1000 genomes]
rs4788570	1.00[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788571	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788573	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788575	0.92[YRI][hapmap]
rs4788576	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788581	0.92[EUR][1000 genomes]
rs4788582	0.87[EUR][1000 genomes]
rs4788584	0.86[EUR][1000 genomes]
rs4788585	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs62053803	0.86[EUR][1000 genomes]
rs6499533	1.00[JPT][hapmap]
rs6499542	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6499545	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499551	0.94[EUR][1000 genomes]
rs6499552	0.95[EUR][1000 genomes]
rs6558	1.00[JPT][hapmap]
rs7184437	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7184486	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7186890	1.00[JPT][hapmap]
rs7187129	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7193731	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194858	1.00[JPT][hapmap]
rs7204708	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs7205154	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8044342	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8046859	0.95[EUR][1000 genomes]
rs8050488	0.93[EUR][1000 genomes]
rs8050651	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8051038	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8054111	0.83[EUR][1000 genomes]
rs8054175	0.83[EUR][1000 genomes]
rs8054403	0.82[EUR][1000 genomes]
rs8057124	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs8058118	0.93[EUR][1000 genomes]
rs8059053	0.93[EUR][1000 genomes]
rs8062946	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8063324	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs8063403	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9302631	0.95[EUR][1000 genomes]
rs9302632	0.93[EUR][1000 genomes]
rs9806882	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806905	0.84[EUR][1000 genomes]
rs9888748	0.84[EUR][1000 genomes]
rs9889011	0.84[EUR][1000 genomes]
rs9921412	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs9932707	0.89[YRI][hapmap]
rs9932922	0.89[EUR][1000 genomes]
rs9934803	0.87[EUR][1000 genomes]
rs9934812	0.87[EUR][1000 genomes]
rs9937936	0.95[EUR][1000 genomes];0.82[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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12447045	PSMD7	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
4	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
5	chr16:71888000-71916400	Weak transcription	NHEK	skin
6	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:71896800-71916600	Weak transcription	NHLF	lung
9	chr16:71897800-71915600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
12	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
13	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus
16	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
17	chr16:71899600-71916600	Weak transcription	Colonic Mucosa	Colon
18	chr16:71899800-71916800	Weak transcription	Brain Substantia Nigra	brain
19	chr16:71900200-71917200	Weak transcription	Gastric	stomach
20	chr16:71902200-71915200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr16:71902200-71916800	Weak transcription	Aorta	Aorta
22	chr16:71902600-71916600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:71904000-71916600	Weak transcription	Fetal Heart	heart
24	chr16:71906000-71916000	Strong transcription	Fetal Stomach	stomach
25	chr16:71906400-71915400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:71908000-71915800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr16:71908200-71915000	Strong transcription	Brain Angular Gyrus	brain
28	chr16:71908400-71914800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:71908400-71915400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:71908400-71915400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:71908400-71915400	Strong transcription	Fetal Muscle Leg	muscle
32	chr16:71908600-71914800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:71908600-71915000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:71908600-71915000	Strong transcription	Fetal Intestine Large	intestine
35	chr16:71908600-71915400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:71909800-71915000	Strong transcription	HSMMtube	muscle
37	chr16:71910200-71915000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr16:71910200-71915200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:71911200-71916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:71911600-71917000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:71911600-71917000	Weak transcription	Lung	lung
42	chr16:71912000-71915200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:71912000-71915200	Strong transcription	Fetal Lung	lung
44	chr16:71912200-71915000	Strong transcription	Colon Smooth Muscle	Colon
45	chr16:71912400-71914800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:71912400-71915200	Strong transcription	Fetal Kidney	kidney
47	chr16:71912400-71915200	Strong transcription	NH-A	brain
48	chr16:71912600-71915200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr16:71912600-71915400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:71912800-71914800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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