Variant report

Variant	rs4439194
Chromosome Location	chr9:72827074-72827075
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10114215	0.80[ASN][1000 genomes]
rs10491653	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1073540	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12683706	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12683986	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12684301	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12684987	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12685322	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12685441	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12685491	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12685534	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12686312	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12686573	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12686584	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12686850	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17051690	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17051696	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17052443	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17052748	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17053503	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17088796	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17088840	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17088889	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17088905	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1927116	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1927117	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1927119	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1927142	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1927143	0.85[ASN][1000 genomes]
rs1927148	0.89[ASN][1000 genomes]
rs1927150	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2026138	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2094400	0.87[AMR][1000 genomes]
rs2148853	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2148865	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2182732	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296772	1.00[AMR][1000 genomes]
rs2296773	1.00[AMR][1000 genomes]
rs2871290	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2871295	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3015223	1.00[AMR][1000 genomes]
rs34061327	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35188046	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35508139	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739773	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3739774	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4069793	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4287005	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4410968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4495496	1.00[AMR][1000 genomes]
rs4596711	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4602958	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4606121	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4610818	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4621877	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4744982	0.82[ASN][1000 genomes]
rs56735283	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56860643	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57048128	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57398306	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57477024	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58219953	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58662316	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58948879	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58969772	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58976318	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59010963	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59189596	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59444215	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59546243	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59589460	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59619263	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59960592	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59976188	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60049462	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60391643	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60458589	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61092050	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61265226	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61266539	0.82[EUR][1000 genomes]
rs7022893	0.80[ASN][1000 genomes]
rs7046167	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs716535	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753022	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs753023	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7875348	0.82[ASN][1000 genomes]
rs943540	0.88[ASN][1000 genomes]
rs954808	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72793000-72842600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:72809600-72837800	Weak transcription	NH-A	brain
3	chr9:72810800-72827800	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:72820800-72827200	Weak transcription	Left Ventricle	heart
5	chr9:72820800-72827200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:72820800-72835400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr9:72821000-72827200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:72821000-72827400	Weak transcription	HSMM	muscle
9	chr9:72821200-72827200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:72821200-72827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:72821200-72828200	Weak transcription	HSMMtube	muscle
12	chr9:72821200-72844800	Weak transcription	HMEC	breast
13	chr9:72821400-72827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:72821400-72829800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:72821400-72830200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:72821400-72832000	Weak transcription	NHEK	skin
17	chr9:72825600-72827200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:72825600-72833200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:72826000-72827200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:72826000-72827800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:72826000-72833200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:72826400-72827200	Weak transcription	Liver	Liver
23	chr9:72826800-72827800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:72827000-72827400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:72827000-72827400	ZNF genes & repeats	Colonic Mucosa	Colon
26	chr9:72827000-72827800	ZNF genes & repeats	Lung	lung
27	chr9:72827000-72828000	ZNF genes & repeats	Fetal Stomach	stomach
28	chr9:72827000-72828200	ZNF genes & repeats	Aorta	Aorta
29	chr9:72827000-72828800	ZNF genes & repeats	Fetal Muscle Leg	muscle

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