Variant report

Variant	rs1927144
Chromosome Location	chr9:72802234-72802235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72799962..72802865-chr9:72805921..72808409,2	K562	blood:

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

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

rs_ID	r²[population]
rs10116549	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10117899	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10125454	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10126027	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10780870	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10780871	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10780924	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs10868742	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10868800	1.00[CHB][hapmap]
rs1112937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11141917	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11142348	1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[ASN][1000 genomes]
rs11142363	0.83[YRI][hapmap]
rs11142365	0.85[EUR][1000 genomes]
rs11142367	0.91[YRI][hapmap]
rs11142368	0.87[YRI][hapmap]
rs11142370	0.84[YRI][hapmap]
rs11142373	0.83[YRI][hapmap]
rs11142375	0.81[ASN][1000 genomes]
rs11142377	1.00[CHB][hapmap]
rs11142379	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs11142380	0.85[EUR][1000 genomes]
rs11142381	0.85[EUR][1000 genomes]
rs1180081	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1180083	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180088	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180089	1.00[CHB][hapmap]
rs1180091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180100	1.00[CHB][hapmap]
rs1180101	0.88[YRI][hapmap]
rs1180104	0.87[YRI][hapmap]
rs1180107	0.84[YRI][hapmap]
rs1180110	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs1180111	0.83[EUR][1000 genomes]
rs1180112	0.88[YRI][hapmap]
rs1180117	0.83[YRI][hapmap]
rs1180118	0.88[YRI][hapmap]
rs1180122	0.84[YRI][hapmap]
rs1180124	0.83[YRI][hapmap]
rs1180126	0.88[YRI][hapmap]
rs1180127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180133	0.84[YRI][hapmap]
rs11998951	0.91[YRI][hapmap]
rs12006212	0.83[YRI][hapmap]
rs12156606	0.87[YRI][hapmap]
rs12349698	0.90[AMR][1000 genomes]
rs12377677	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12380844	0.91[YRI][hapmap]
rs1887451	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1927091	0.87[AFR][1000 genomes]
rs1927092	0.87[AFR][1000 genomes]
rs1927096	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927100	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927118	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1927124	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927130	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927132	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927133	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927134	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927135	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927136	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1927141	0.90[AFR][1000 genomes]
rs1927148	0.86[YRI][hapmap]
rs1986067	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2026137	0.88[YRI][hapmap]
rs2148854	0.80[AFR][1000 genomes]
rs2148857	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2148859	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2148863	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2148866	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2148867	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182734	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182737	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182738	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182741	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2309634	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2309637	0.85[AFR][1000 genomes]
rs2309644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2309645	1.00[CHB][hapmap]
rs2479033	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2768643	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768646	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2773363	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2773366	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2871293	0.84[YRI][hapmap]
rs4384045	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4449855	0.83[YRI][hapmap]
rs4744989	0.82[AMR][1000 genomes]
rs4744993	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744999	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6560016	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6560018	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66524845	0.85[ASN][1000 genomes]
rs66756859	0.93[ASN][1000 genomes]
rs68171482	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7019147	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7020447	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7024117	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7034322	0.87[YRI][hapmap]
rs7043171	1.00[CHB][hapmap]
rs7047789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7853298	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7858988	0.83[YRI][hapmap]
rs7860729	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7869429	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943534	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs943535	1.00[CHB][hapmap]
rs943536	0.83[YRI][hapmap]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72780600-72803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr9:72793000-72842600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:72793200-72804800	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:72794000-72806800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:72800000-72802800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:72800000-72803200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr9:72800200-72803800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:72800800-72802400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:72800800-72803600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:72800800-72807800	Weak transcription	Left Ventricle	heart
11	chr9:72800800-72811600	Weak transcription	Esophagus	oesophagus
12	chr9:72801000-72805800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:72801000-72810200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:72801600-72803600	Strong transcription	HSMM	muscle
15	chr9:72802000-72802400	Weak transcription	Aorta	Aorta
16	chr9:72802000-72805000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:72802000-72806600	Weak transcription	HSMMtube	muscle
18	chr9:72802000-72808200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:72802000-72809000	Weak transcription	Ovary	ovary
20	chr9:72802000-72811000	Weak transcription	Pancreas	Pancrea
21	chr9:72802000-72827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:72802200-72804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:72802200-72820000	Weak transcription	Fetal Lung	lung

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