Variant report

Variant	rs10732697
Chromosome Location	chr9:72779057-72779058
allele	C/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	MAFK	chr9:72779007-72779341	HepG2	liver:	n/a	chr9:72779169-72779184
2	MAFF	chr9:72779041-72779261	K562	blood:	n/a	chr9:72779167-72779185
3	MAFK	chr9:72779004-72779326	IMR90	lung:	n/a	chr9:72779169-72779184
4	CTCF	chr9:72778960-72779110	HBMEC	blood vessel:	n/a	n/a
5	MAFK	chr9:72779015-72779325	HepG2	liver:	n/a	chr9:72779169-72779184
6	MAFF	chr9:72779024-72779328	HepG2	liver:	n/a	chr9:72779167-72779185

Variant related genes	Relation type
MAMDC2	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10116027	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116549	0.83[AFR][1000 genomes]
rs10125117	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10126027	0.83[AFR][1000 genomes]
rs1012992	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1012993	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10780866	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780870	0.82[AFR][1000 genomes]
rs10780871	0.83[AFR][1000 genomes]
rs10780898	0.81[ASN][1000 genomes]
rs10868741	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11141917	0.80[AFR][1000 genomes]
rs11142242	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11142354	0.83[ASN][1000 genomes]
rs11142356	0.83[ASN][1000 genomes]
rs11142363	0.81[ASN][1000 genomes]
rs11142367	0.81[ASN][1000 genomes]
rs11142368	0.81[ASN][1000 genomes]
rs11142370	0.80[ASN][1000 genomes]
rs11142371	0.81[ASN][1000 genomes]
rs1180078	0.86[ASN][1000 genomes]
rs1180079	0.86[ASN][1000 genomes]
rs1180087	0.86[ASN][1000 genomes]
rs1180098	0.85[ASN][1000 genomes]
rs1180101	0.85[ASN][1000 genomes]
rs1180102	0.85[ASN][1000 genomes]
rs1180103	0.85[ASN][1000 genomes]
rs1180104	0.85[ASN][1000 genomes]
rs1180105	0.85[ASN][1000 genomes]
rs1180106	0.85[ASN][1000 genomes]
rs1180107	0.85[ASN][1000 genomes]
rs1180112	0.83[ASN][1000 genomes]
rs1180114	0.83[ASN][1000 genomes]
rs1180115	0.83[ASN][1000 genomes]
rs1180117	0.83[ASN][1000 genomes]
rs1180118	0.83[ASN][1000 genomes]
rs1180120	0.83[ASN][1000 genomes]
rs1180122	0.83[ASN][1000 genomes]
rs1180124	0.83[ASN][1000 genomes]
rs1180125	0.82[ASN][1000 genomes]
rs1180126	0.83[ASN][1000 genomes]
rs1180128	0.82[ASN][1000 genomes]
rs1180132	0.82[ASN][1000 genomes]
rs1180133	0.83[ASN][1000 genomes]
rs11998951	0.81[ASN][1000 genomes]
rs12006212	0.81[ASN][1000 genomes]
rs12236327	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12377677	0.85[AFR][1000 genomes]
rs12380844	0.80[ASN][1000 genomes]
rs1887452	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927091	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927092	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1927093	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927098	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1927118	0.83[AFR][1000 genomes]
rs1927120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927121	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927122	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927124	0.84[AFR][1000 genomes]
rs1927125	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1927126	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1927127	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927130	0.83[AFR][1000 genomes]
rs1927132	0.83[AFR][1000 genomes]
rs1927133	0.83[AFR][1000 genomes]
rs1927134	0.83[AFR][1000 genomes]
rs1927135	0.83[AFR][1000 genomes]
rs1927136	0.83[AFR][1000 genomes]
rs1927143	0.81[AFR][1000 genomes]
rs2026137	0.81[ASN][1000 genomes]
rs2148866	0.83[AFR][1000 genomes]
rs2148867	0.84[AFR][1000 genomes]
rs2148868	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182731	0.88[ASN][1000 genomes]
rs2182740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182741	0.84[AFR][1000 genomes]
rs2183362	0.82[ASN][1000 genomes]
rs2309632	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309634	0.83[AFR][1000 genomes]
rs2309636	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2768644	0.86[ASN][1000 genomes]
rs2768645	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2768649	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2773362	0.86[ASN][1000 genomes]
rs2871291	0.94[ASN][1000 genomes]
rs2871296	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4322072	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4378025	0.85[ASN][1000 genomes]
rs4449855	0.83[ASN][1000 genomes]
rs4531114	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744591	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744984	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744986	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744994	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744995	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744997	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744998	0.80[EUR][1000 genomes]
rs56345723	0.90[ASN][1000 genomes]
rs58720670	0.82[ASN][1000 genomes]
rs58881692	0.81[ASN][1000 genomes]
rs6560016	0.84[AFR][1000 genomes]
rs6560018	0.83[AFR][1000 genomes]
rs6560060	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66658020	0.81[ASN][1000 genomes]
rs7024117	0.84[AFR][1000 genomes]
rs7034322	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7041843	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73454795	0.82[ASN][1000 genomes]
rs7852005	0.81[ASN][1000 genomes]
rs7854735	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7856528	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7857214	0.87[ASN][1000 genomes]
rs7857292	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7858389	0.81[ASN][1000 genomes]
rs7858988	0.82[ASN][1000 genomes]
rs7860729	0.80[AFR][1000 genomes]
rs7867727	0.81[ASN][1000 genomes]
rs7868564	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7875514	0.86[ASN][1000 genomes]
rs8181178	0.82[ASN][1000 genomes]
rs8181179	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs943536	0.83[ASN][1000 genomes]
rs943539	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
3	chr9:72752000-72779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
5	chr9:72759800-72792200	Weak transcription	HMEC	breast
6	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:72766200-72785200	Weak transcription	Left Ventricle	heart
8	chr9:72767400-72780200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:72768600-72780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:72769400-72779800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr9:72770000-72783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:72771600-72780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:72773200-72783200	Weak transcription	Pancreas	Pancrea
14	chr9:72774800-72780000	Weak transcription	NH-A	brain
15	chr9:72775200-72779200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:72775200-72779400	Weak transcription	HSMM	muscle
17	chr9:72775200-72783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:72775200-72800000	Weak transcription	Esophagus	oesophagus
19	chr9:72775800-72780200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:72775800-72785200	Weak transcription	Adipose Nuclei	Adipose
21	chr9:72776400-72780000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:72776800-72791800	Weak transcription	Fetal Lung	lung
23	chr9:72777000-72792400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:72777200-72780000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:72777200-72780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:72777200-72784800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:72777400-72779600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:72777400-72789400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:72777600-72783600	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:72777800-72780000	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:72777800-72785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:72777800-72785400	Weak transcription	Ovary	ovary
33	chr9:72777800-72800000	Weak transcription	Fetal Stomach	stomach
34	chr9:72778400-72785400	Weak transcription	Aorta	Aorta
35	chr9:72778800-72779200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:72778800-72780200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:72779000-72779200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:72779000-72779200	Genic enhancers	HSMMtube	muscle
39	chr9:72779000-72780600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:72779000-72780800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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