Variant report

Variant	rs62570306
Chromosome Location	chr9:72783195-72783196
allele	A/G
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	FOXA1	chr9:72782608-72783200	HepG2	liver:	n/a	n/a
2	FOXA2	chr9:72782051-72783363	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MAMDC2	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10868610	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10868623	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11141936	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142019	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142141	0.87[AMR][1000 genomes]
rs11142346	0.87[AMR][1000 genomes]
rs11791792	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11794396	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180085	0.87[AMR][1000 genomes]
rs1180090	0.87[AMR][1000 genomes]
rs1180093	0.87[AMR][1000 genomes]
rs1180095	0.84[AMR][1000 genomes]
rs12005243	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12338030	0.81[AMR][1000 genomes]
rs12341341	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12341763	0.80[ASN][1000 genomes]
rs12343885	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12352944	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2148856	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507832	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4744983	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59836712	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62570296	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62570318	0.87[AMR][1000 genomes]
rs7023586	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72712267	0.87[AMR][1000 genomes]
rs72712271	0.87[AMR][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:39 , 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	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
4	chr9:72759800-72792200	Weak transcription	HMEC	breast
5	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:72766200-72785200	Weak transcription	Left Ventricle	heart
7	chr9:72770000-72783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:72773200-72783200	Weak transcription	Pancreas	Pancrea
9	chr9:72775200-72783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:72775200-72800000	Weak transcription	Esophagus	oesophagus
11	chr9:72775800-72785200	Weak transcription	Adipose Nuclei	Adipose
12	chr9:72776800-72791800	Weak transcription	Fetal Lung	lung
13	chr9:72777000-72792400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:72777200-72784800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:72777400-72789400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:72777600-72783600	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:72777800-72785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:72777800-72785400	Weak transcription	Ovary	ovary
19	chr9:72777800-72800000	Weak transcription	Fetal Stomach	stomach
20	chr9:72778400-72785400	Weak transcription	Aorta	Aorta
21	chr9:72779200-72789600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:72779200-72792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:72780400-72796000	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:72780400-72800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:72780600-72783600	Weak transcription	HSMM	muscle
26	chr9:72780600-72783800	Weak transcription	NH-A	brain
27	chr9:72780600-72785200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:72780600-72785200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:72780600-72785600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:72780600-72787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:72780600-72791400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:72780600-72801400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:72780600-72803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:72780800-72783600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:72780800-72791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:72781800-72784000	Enhancers	HepG2	liver
37	chr9:72782800-72784800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:72782800-72785000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:72783000-72792000	Strong transcription	HSMMtube	muscle

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