Variant report

Variant	rs2148857
Chromosome Location	chr9:72832640-72832641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10116549	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10117899	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125454	0.84[EUR][1000 genomes]
rs10126027	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10780870	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780871	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780924	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs10868741	0.80[AFR][1000 genomes]
rs10868742	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868800	1.00[CHB][hapmap]
rs10868808	0.89[YRI][hapmap]
rs1112937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141917	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142348	0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs11142363	0.96[YRI][hapmap]
rs11142365	0.93[EUR][1000 genomes]
rs11142367	1.00[YRI][hapmap]
rs11142368	1.00[YRI][hapmap]
rs11142370	0.96[YRI][hapmap]
rs11142373	0.96[YRI][hapmap]
rs11142375	0.88[ASN][1000 genomes]
rs11142377	1.00[CHB][hapmap]
rs11142379	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs11142380	0.93[EUR][1000 genomes]
rs11142381	0.93[EUR][1000 genomes]
rs1180081	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs1180083	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180087	0.82[AFR][1000 genomes]
rs1180088	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180089	1.00[CHB][hapmap]
rs1180091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180098	0.82[AFR][1000 genomes]
rs1180099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180100	1.00[CHB][hapmap]
rs1180101	0.96[YRI][hapmap]
rs1180104	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1180106	0.82[AFR][1000 genomes]
rs1180107	0.96[YRI][hapmap]
rs1180110	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs1180111	0.91[EUR][1000 genomes]
rs1180112	1.00[YRI][hapmap]
rs1180117	0.95[YRI][hapmap]
rs1180118	1.00[YRI][hapmap]
rs1180122	0.96[YRI][hapmap]
rs1180124	0.96[YRI][hapmap]
rs1180126	1.00[YRI][hapmap]
rs1180127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180133	0.96[YRI][hapmap]
rs11998951	0.95[YRI][hapmap]
rs12006212	0.96[YRI][hapmap]
rs12115787	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12156606	1.00[YRI][hapmap]
rs12349698	0.90[AMR][1000 genomes]
rs12377677	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12380844	1.00[YRI][hapmap]
rs17051515	0.80[ASN][1000 genomes]
rs17454349	0.80[ASN][1000 genomes]
rs17454433	0.80[ASN][1000 genomes]
rs17526808	0.80[ASN][1000 genomes]
rs1887451	0.84[EUR][1000 genomes]
rs1927096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927098	0.86[AFR][1000 genomes]
rs1927100	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927101	0.80[ASN][1000 genomes]
rs1927118	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927124	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927130	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927132	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927133	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927134	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927135	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927136	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1927144	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927146	0.84[YRI][hapmap]
rs1986067	0.89[ASN][1000 genomes]
rs2026137	1.00[YRI][hapmap]
rs2148859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148863	0.84[EUR][1000 genomes]
rs2148866	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2148867	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182737	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182741	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309634	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309645	1.00[CHB][hapmap]
rs2479033	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768643	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2768645	0.81[AFR][1000 genomes]
rs2768646	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2773363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2773366	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871293	0.96[YRI][hapmap]
rs2871296	0.84[AFR][1000 genomes]
rs4384045	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449855	0.96[YRI][hapmap]
rs4744591	0.84[AFR][1000 genomes]
rs4744989	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744993	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744999	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019539	0.80[ASN][1000 genomes]
rs6560015	0.80[ASN][1000 genomes]
rs6560016	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6560018	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66524845	0.92[ASN][1000 genomes]
rs66756859	1.00[ASN][1000 genomes]
rs68171482	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7019147	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020447	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024117	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024812	0.80[ASN][1000 genomes]
rs7034322	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7041843	0.86[AFR][1000 genomes]
rs7043171	1.00[CHB][hapmap]
rs7047789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7853298	0.84[EUR][1000 genomes]
rs7854735	0.80[AFR][1000 genomes]
rs7858988	0.96[YRI][hapmap]
rs7860729	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7868564	0.84[AFR][1000 genomes]
rs7869429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871674	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs943534	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943535	1.00[CHB][hapmap]
rs943536	0.96[YRI][hapmap]
rs943540	0.80[YRI][hapmap]

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	nsv972757	chr9:72832153-72833362	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

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	chr9:72820800-72835400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:72821200-72844800	Weak transcription	HMEC	breast
5	chr9:72825600-72833200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:72826000-72833200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:72827600-72833800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr9:72827600-72834000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:72827600-72843200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:72827800-72833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:72827800-72833400	Weak transcription	Osteobl	bone
12	chr9:72827800-72841600	Weak transcription	Placenta	Placenta
13	chr9:72828000-72833200	Weak transcription	Fetal Stomach	stomach
14	chr9:72828000-72833200	Weak transcription	Left Ventricle	heart
15	chr9:72828000-72833400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:72828000-72836600	Weak transcription	Right Ventricle	heart
17	chr9:72828000-72837000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:72828000-72844000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:72828000-72858800	Weak transcription	Gastric	stomach
20	chr9:72828200-72833200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:72828200-72833400	Weak transcription	Fetal Kidney	kidney
22	chr9:72828200-72835400	Weak transcription	Adipose Nuclei	Adipose
23	chr9:72828200-72835400	Weak transcription	Small Intestine	intestine
24	chr9:72828200-72843200	Weak transcription	Fetal Lung	lung
25	chr9:72828200-72844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:72828600-72837200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:72828600-72843000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:72829000-72841800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:72829400-72833200	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:72829400-72835200	Weak transcription	Psoas Muscle	Psoas
31	chr9:72829600-72839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:72829600-72843400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:72829800-72833200	Weak transcription	NHDF-Ad	bronchial
34	chr9:72830200-72834200	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:72830200-72836200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:72830200-72836600	Weak transcription	Pancreas	Pancrea
37	chr9:72830200-72837200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:72830200-72837200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr9:72830800-72833400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:72830800-72845200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:72831400-72833200	Weak transcription	HSMMtube	muscle
42	chr9:72831400-72836800	Weak transcription	Brain Angular Gyrus	brain
43	chr9:72831600-72833400	Weak transcription	Liver	Liver
44	chr9:72831600-72833400	Weak transcription	HSMM	muscle
45	chr9:72831600-72835200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:72831600-72841000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:72831800-72833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:72831800-72835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:72832000-72833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:72832000-72833200	Weak transcription	Aorta	Aorta

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