Variant report

Variant	rs2309633
Chromosome Location	chr9:72789814-72789815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10119662	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10481740	0.81[ASN][1000 genomes]
rs10481741	0.81[ASN][1000 genomes]
rs10735583	0.81[ASN][1000 genomes]
rs10780811	0.81[ASN][1000 genomes]
rs10780923	0.81[ASN][1000 genomes]
rs10868752	0.86[ASN][1000 genomes]
rs10868757	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10868799	0.80[ASN][1000 genomes]
rs11142029	0.84[EUR][1000 genomes]
rs11142350	0.82[ASN][1000 genomes]
rs1536956	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1927106	0.81[ASN][1000 genomes]
rs1927115	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1927128	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927129	0.85[EUR][1000 genomes]
rs1927137	0.87[EUR][1000 genomes]
rs1927139	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026136	0.82[ASN][1000 genomes]
rs2148861	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182736	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182739	0.82[ASN][1000 genomes]
rs2209779	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281935	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2309642	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2309647	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2975890	0.81[ASN][1000 genomes]
rs3847321	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3858107	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4744977	0.81[ASN][1000 genomes]
rs4744978	0.81[ASN][1000 genomes]
rs6560019	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7021420	0.81[ASN][1000 genomes]
rs7027209	0.83[ASN][1000 genomes]
rs7469211	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9650766	0.80[EUR][1000 genomes];0.83[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	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
2	nsv968579	chr9:72787163-72791525	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
2	chr9:72759800-72792200	Weak transcription	HMEC	breast
3	chr9:72775200-72800000	Weak transcription	Esophagus	oesophagus
4	chr9:72776800-72791800	Weak transcription	Fetal Lung	lung
5	chr9:72777000-72792400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:72777800-72800000	Weak transcription	Fetal Stomach	stomach
7	chr9:72779200-72792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:72780400-72796000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:72780400-72800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:72780600-72791400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:72780600-72801400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:72780600-72803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:72780800-72791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:72783000-72792000	Strong transcription	HSMMtube	muscle
15	chr9:72783600-72792400	Weak transcription	Pancreas	Pancrea
16	chr9:72783600-72793600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:72783600-72794000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr9:72783800-72801600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:72784400-72793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:72784600-72802000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:72785000-72791200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:72785200-72790400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:72785600-72794200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:72786000-72792200	Weak transcription	NH-A	brain
25	chr9:72786000-72792400	Weak transcription	Ovary	ovary
26	chr9:72786200-72792400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:72786400-72795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:72786400-72800400	Weak transcription	Aorta	Aorta
29	chr9:72786600-72790600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:72786600-72792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:72787800-72790000	Weak transcription	Adipose Nuclei	Adipose
32	chr9:72787800-72791600	Strong transcription	HSMM	muscle
33	chr9:72788200-72794200	Weak transcription	Lung	lung
34	chr9:72788200-72800200	Weak transcription	Left Ventricle	heart
35	chr9:72789400-72790000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:72789400-72793200	Weak transcription	Gastric	stomach
37	chr9:72789600-72790400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:72789800-72792400	Weak transcription	Colon Smooth Muscle	Colon

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