Variant report

Variant	rs7872644
Chromosome Location	chr9:95299191-95299192
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr9:95299172-95299201	K562	blood:	n/a	n/a

Variant related genes	Relation type
ECM2	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10114912	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10114932	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10115290	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10117627	0.86[EUR][1000 genomes]
rs10117680	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10118107	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118939	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10120329	0.88[ASN][1000 genomes]
rs10123738	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10125450	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10429459	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10514815	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1075397	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10761158	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10761163	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10761164	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10820980	0.82[EUR][1000 genomes]
rs10820986	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10820988	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10820989	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10820990	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10820994	0.81[EUR][1000 genomes]
rs10992347	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992365	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10992366	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10992375	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11788523	0.82[EUR][1000 genomes]
rs11794346	0.82[EUR][1000 genomes]
rs12335553	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12338938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12341817	0.82[EUR][1000 genomes]
rs12343820	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13301492	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13301652	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535754	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1924243	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1924244	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1980848	0.82[EUR][1000 genomes]
rs2026585	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2094281	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2104533	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296666	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2895219	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739606	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3780347	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3927488	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4302908	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4743873	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4743874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744133	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4744135	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4744137	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744138	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4744141	0.80[EUR][1000 genomes]
rs6479423	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7029939	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7031567	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs747628	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs747629	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7847534	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7849788	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7849927	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7852510	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7860774	0.82[EUR][1000 genomes]
rs7860786	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7863049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864575	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7865019	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7872610	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7873390	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs927865	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9299405	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs968040	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs987553	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs987554	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[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	nsv1052846	chr9:95291909-95366109	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7872644	CENPP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95294800-95301200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:95296000-95301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:95296400-95299600	Enhancers	HepG2	liver
4	chr9:95297000-95299200	Active TSS	Right Atrium	heart
5	chr9:95297200-95301000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:95297400-95299200	Active TSS	Fetal Lung	lung
7	chr9:95297400-95299200	Active TSS	Ovary	ovary
8	chr9:95297400-95299400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:95297400-95300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:95297400-95300000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:95297400-95304600	Weak transcription	Left Ventricle	heart
12	chr9:95297600-95299200	Active TSS	NHDF-Ad	bronchial
13	chr9:95297800-95299200	Active TSS	Liver	Liver
14	chr9:95298000-95299200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:95298000-95299600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:95298200-95299200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:95298600-95299200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:95298600-95299200	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr9:95298600-95299600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr9:95298600-95300200	Weak transcription	NH-A	brain
21	chr9:95298800-95299200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:95298800-95299200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:95298800-95299400	Enhancers	Fetal Muscle Leg	muscle
24	chr9:95298800-95299400	Enhancers	HSMM	muscle
25	chr9:95298800-95301400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:95299000-95299200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr9:95299000-95299400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr9:95299000-95300200	Enhancers	Fetal Intestine Large	intestine
29	chr9:95299000-95300200	Weak transcription	HSMMtube	muscle
30	chr9:95299000-95300200	Weak transcription	NHLF	lung
31	chr9:95299000-95300400	Enhancers	Fetal Intestine Small	intestine
32	chr9:95299000-95300800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr9:95299000-95301000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:95299000-95301200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:95299000-95301400	Enhancers	Osteobl	bone
36	chr9:95299000-95301600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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