Variant report

Variant	rs3780347
Chromosome Location	chr9:95266812-95266813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95266639..95268183-chr9:95274225..95275863,2	K562	blood:
2	chr9:95265820..95267695-chr9:95271447..95273946,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10114912	0.84[EUR][1000 genomes]
rs10114932	0.83[EUR][1000 genomes]
rs10115290	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10116241	0.99[ASN][1000 genomes]
rs10117627	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10117680	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10118107	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10118939	0.85[EUR][1000 genomes]
rs10121495	0.90[ASN][1000 genomes]
rs10123738	0.85[ASN][1000 genomes]
rs10125450	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10283572	0.91[ASN][1000 genomes]
rs10429459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10453241	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10514815	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1053441	0.95[ASN][1000 genomes]
rs1053446	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10739927	0.87[ASN][1000 genomes]
rs1075397	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10761153	0.92[ASN][1000 genomes]
rs10761154	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10761155	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10761158	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761160	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10761161	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761163	0.84[EUR][1000 genomes]
rs10761164	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10820964	0.85[ASN][1000 genomes]
rs10820965	0.80[AFR][1000 genomes]
rs10820969	0.90[ASN][1000 genomes]
rs10820971	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10820980	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10820986	0.82[ASN][1000 genomes]
rs10820988	0.82[ASN][1000 genomes]
rs10820989	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10820990	0.81[AMR][1000 genomes]
rs10820994	0.81[EUR][1000 genomes]
rs10992291	0.85[ASN][1000 genomes]
rs10992322	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10992340	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10992347	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992349	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10992365	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10992366	0.84[EUR][1000 genomes]
rs10992375	0.86[EUR][1000 genomes]
rs1121978	0.84[AFR][1000 genomes]
rs1133908	0.87[ASN][1000 genomes]
rs11788523	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11789163	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11792019	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11794346	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11795122	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335553	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12336415	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12336884	0.82[EUR][1000 genomes]
rs12338938	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12341817	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12342019	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12343820	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12348488	0.82[ASN][1000 genomes]
rs12353096	0.85[ASN][1000 genomes]
rs13301492	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13301537	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13301652	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1535754	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535756	0.81[EUR][1000 genomes]
rs1924243	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1924244	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1980848	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2007837	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2025388	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2026585	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2094281	0.86[EUR][1000 genomes]
rs2104533	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2274966	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2296666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296667	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2516567	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2761677	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2761679	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2895219	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3118008	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3739606	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3927488	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4302908	0.81[AMR][1000 genomes]
rs4743873	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4743874	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744133	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744134	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744135	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744136	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744137	0.85[EUR][1000 genomes]
rs4744138	0.85[EUR][1000 genomes]
rs4744139	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4744141	0.80[EUR][1000 genomes]
rs6479416	0.87[ASN][1000 genomes]
rs6479417	0.87[ASN][1000 genomes]
rs6479419	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6479420	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6479422	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6479423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7020874	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7023004	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7026361	0.92[ASN][1000 genomes]
rs7029939	0.84[EUR][1000 genomes]
rs7031567	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7033979	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7045409	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7047089	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs710162	0.86[ASN][1000 genomes]
rs747628	0.85[EUR][1000 genomes]
rs747629	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7847534	0.85[EUR][1000 genomes]
rs7847929	0.94[ASN][1000 genomes]
rs7849788	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7849927	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7850432	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7850528	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7852510	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7853859	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7856204	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7860774	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7860786	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7863049	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7863234	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7863406	0.87[ASN][1000 genomes]
rs7864575	0.85[EUR][1000 genomes]
rs7864630	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865019	0.84[EUR][1000 genomes]
rs7868013	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7868640	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7869742	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7872375	0.87[ASN][1000 genomes]
rs7872610	0.85[EUR][1000 genomes]
rs7872644	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7873390	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7873397	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7873932	0.87[ASN][1000 genomes]
rs8067	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs927865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9299404	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9299405	0.85[EUR][1000 genomes]
rs968040	0.85[EUR][1000 genomes]
rs987553	0.85[EUR][1000 genomes]
rs987554	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3780347	CENPP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95231800-95268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:95246400-95267000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:95252600-95269400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:95255000-95274600	Weak transcription	Liver	Liver
5	chr9:95255400-95269400	Weak transcription	Right Ventricle	heart
6	chr9:95256800-95267000	Weak transcription	Fetal Stomach	stomach
7	chr9:95258200-95268000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:95258600-95268200	Weak transcription	Fetal Heart	heart
9	chr9:95261400-95268200	Weak transcription	Brain Substantia Nigra	brain
10	chr9:95262200-95269800	Weak transcription	Fetal Thymus	thymus
11	chr9:95262200-95270000	Weak transcription	Brain Anterior Caudate	brain
12	chr9:95262400-95268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:95263400-95267400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:95264200-95268200	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:95264400-95268200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:95264600-95267800	Weak transcription	HSMMtube	muscle
17	chr9:95264600-95268200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:95264600-95269000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:95264600-95270000	Weak transcription	Lung	lung
20	chr9:95264800-95267000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:95264800-95270000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:95266000-95268600	Enhancers	Stomach Smooth Muscle	stomach
23	chr9:95266000-95270400	Enhancers	Colon Smooth Muscle	Colon
24	chr9:95266200-95267000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:95266200-95267200	Enhancers	Right Atrium	heart
26	chr9:95266200-95267200	Enhancers	NHEK	skin
27	chr9:95266200-95267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:95266200-95268000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:95266200-95268200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:95266400-95267000	Enhancers	Adipose Nuclei	Adipose
31	chr9:95266400-95268000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:95266400-95268200	Enhancers	NHLF	lung
33	chr9:95266400-95268400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:95266400-95269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:95266400-95270000	Enhancers	Osteobl	bone
36	chr9:95266600-95267000	Genic enhancers	Aorta	Aorta
37	chr9:95266600-95267000	Enhancers	Left Ventricle	heart
38	chr9:95266600-95267200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:95266600-95267200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:95266600-95267200	Enhancers	Fetal Lung	lung
41	chr9:95266600-95267200	Enhancers	Fetal Muscle Trunk	muscle
42	chr9:95266600-95267400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:95266600-95267400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr9:95266600-95268000	Enhancers	HMEC	breast
45	chr9:95266600-95268200	Enhancers	NH-A	brain
46	chr9:95266600-95268200	Enhancers	NHDF-Ad	bronchial
47	chr9:95266600-95268600	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:95266600-95269200	Enhancers	K562	blood
49	chr9:95266600-95270400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:95266600-95270800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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