Variant report

Variant	rs57048128
Chromosome Location	chr9:72780223-72780224
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10114215	0.94[ASN][1000 genomes]
rs10491653	0.87[AMR][1000 genomes]
rs1073540	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10780851	0.81[ASN][1000 genomes]
rs12003971	0.81[ASN][1000 genomes]
rs12683706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12683986	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12684301	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12684987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12685441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12685491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12685534	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12686312	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12686383	0.81[ASN][1000 genomes]
rs12686573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12686584	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12686850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17051690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17051696	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17052443	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17052748	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17053503	0.87[AMR][1000 genomes]
rs17088796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17088840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17088889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17088905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927105	0.82[ASN][1000 genomes]
rs1927110	0.82[ASN][1000 genomes]
rs1927116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1927117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927143	0.87[ASN][1000 genomes]
rs1927148	0.87[ASN][1000 genomes]
rs1927150	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2026138	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2094399	0.83[AFR][1000 genomes]
rs2094400	0.87[AMR][1000 genomes]
rs2148853	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2148865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182732	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2296773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2871290	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2871295	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2975866	0.81[ASN][1000 genomes]
rs2975867	0.81[ASN][1000 genomes]
rs2975868	0.81[ASN][1000 genomes]
rs2975880	0.82[ASN][1000 genomes]
rs2975884	0.82[ASN][1000 genomes]
rs2997714	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3015184	0.81[ASN][1000 genomes]
rs3015185	0.81[ASN][1000 genomes]
rs3015186	0.81[ASN][1000 genomes]
rs3015189	0.81[ASN][1000 genomes]
rs3015198	0.82[ASN][1000 genomes]
rs3015204	0.82[ASN][1000 genomes]
rs3015207	0.82[ASN][1000 genomes]
rs3015213	0.82[ASN][1000 genomes]
rs3015223	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34061327	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35188046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35508139	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3739773	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3739774	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4069793	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4287005	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4289878	0.81[ASN][1000 genomes]
rs4410968	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4439194	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4460447	0.82[ASN][1000 genomes]
rs4495496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4596711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4602958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4606121	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4610818	0.87[AMR][1000 genomes]
rs4621877	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4744982	0.96[ASN][1000 genomes]
rs4744984	0.81[ASN][1000 genomes]
rs56735283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56860643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57398306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57477024	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58219953	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58662316	0.87[AMR][1000 genomes]
rs58948879	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58969772	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58976318	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59010963	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59189596	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59444215	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59546243	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59589460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59619263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59960592	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59976188	0.84[ASN][1000 genomes]
rs60049462	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60391643	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60458589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61092050	0.87[AMR][1000 genomes]
rs61265226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7022893	0.94[ASN][1000 genomes]
rs7046167	0.86[AMR][1000 genomes]
rs716535	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72710483	0.81[ASN][1000 genomes]
rs745852	0.82[ASN][1000 genomes]
rs753022	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs753023	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7856528	0.81[ASN][1000 genomes]
rs7875348	0.84[ASN][1000 genomes]
rs943540	0.86[ASN][1000 genomes]
rs954808	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:42 , 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	chr9:72777200-72780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:72777200-72784800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:72777400-72789400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:72777600-72783600	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:72777800-72785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:72777800-72785400	Weak transcription	Ovary	ovary
20	chr9:72777800-72800000	Weak transcription	Fetal Stomach	stomach
21	chr9:72778400-72785400	Weak transcription	Aorta	Aorta
22	chr9:72779000-72780600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr9:72779000-72780800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:72779200-72780600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:72779200-72789600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:72779200-72792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:72779600-72780400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:72779600-72780800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr9:72779800-72780800	Genic enhancers	HSMMtube	muscle
30	chr9:72780000-72780400	Enhancers	Fetal Muscle Leg	muscle
31	chr9:72780000-72780600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:72780000-72780600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:72780000-72780600	Genic enhancers	HSMM	muscle
34	chr9:72780000-72780600	Enhancers	NH-A	brain
35	chr9:72780000-72780800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:72780200-72780400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:72780200-72780400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:72780200-72780600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:72780200-72780600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:72780200-72780600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:72780200-72780600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr9:72780200-72780800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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