Variant report

Variant	rs73454795
Chromosome Location	chr9:72922519-72922520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10116027	0.82[ASN][1000 genomes]
rs10125117	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1012992	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1012993	0.82[ASN][1000 genomes]
rs10435957	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10732697	0.82[ASN][1000 genomes]
rs10746819	0.82[ASN][1000 genomes]
rs10780866	0.82[ASN][1000 genomes]
rs10780869	0.82[ASN][1000 genomes]
rs10780898	0.82[ASN][1000 genomes]
rs10868741	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10868807	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10868808	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1112937	0.92[AFR][1000 genomes]
rs11142242	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11142354	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11142356	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11142363	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11142367	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11142368	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11142370	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11142371	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11142373	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11142374	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1180078	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1180079	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1180081	0.82[AFR][1000 genomes]
rs1180083	0.82[AFR][1000 genomes]
rs1180086	0.82[AFR][1000 genomes]
rs1180087	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1180088	0.80[AFR][1000 genomes]
rs1180094	0.82[AFR][1000 genomes]
rs1180098	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180101	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180103	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180104	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180105	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180106	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180107	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180112	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180114	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180115	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180117	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180118	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180120	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180122	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180124	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180125	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180126	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1180127	0.90[AFR][1000 genomes]
rs1180128	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180132	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180133	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11998951	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12005666	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12006212	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12156606	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12236327	0.83[ASN][1000 genomes]
rs12377766	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12379485	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12380844	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1887452	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1927091	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1927092	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1927093	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1927098	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927120	0.82[ASN][1000 genomes]
rs1927121	0.82[ASN][1000 genomes]
rs1927122	0.82[ASN][1000 genomes]
rs1927125	0.86[ASN][1000 genomes]
rs1927126	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1927127	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2026137	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2148859	0.82[AFR][1000 genomes]
rs2148868	0.82[ASN][1000 genomes]
rs2182731	0.84[ASN][1000 genomes]
rs2182740	0.82[ASN][1000 genomes]
rs2183362	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309632	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2309636	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2479032	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2768643	0.80[AFR][1000 genomes]
rs2768644	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2768645	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2768646	0.82[AFR][1000 genomes]
rs2768649	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2773362	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2773363	0.82[AFR][1000 genomes]
rs2871293	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2871296	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4279667	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4322072	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4357361	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4378025	0.81[ASN][1000 genomes]
rs4449855	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4531114	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744591	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4744986	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744994	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4744995	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744997	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744998	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744999	0.82[AFR][1000 genomes]
rs56059804	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56345723	0.82[ASN][1000 genomes]
rs58720670	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58879007	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58881692	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59013777	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61531415	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6560060	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6560129	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66524845	0.83[AFR][1000 genomes]
rs66658020	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68171482	0.90[AFR][1000 genomes]
rs7019147	0.82[AFR][1000 genomes]
rs7020447	0.82[AFR][1000 genomes]
rs7034322	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7041843	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7047789	0.90[AFR][1000 genomes]
rs7852005	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7854735	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7857214	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7857292	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7858389	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7858907	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7858988	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867727	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7868564	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7875514	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8181178	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8181179	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs943536	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs943539	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72876400-72939400	Weak transcription	Spleen	Spleen
3	chr9:72876400-72942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
5	chr9:72877000-72939800	Weak transcription	Gastric	stomach
6	chr9:72877000-72942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:72877600-72935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:72878600-72937600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:72880000-72939400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:72891000-72923400	Strong transcription	Dnd41	blood
11	chr9:72891400-72948200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr9:72900600-72924000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:72900600-72939400	Weak transcription	Small Intestine	intestine
14	chr9:72900600-72942600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:72903000-72930400	Weak transcription	Brain Angular Gyrus	brain
16	chr9:72907000-72924600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:72907200-72942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:72908000-72924400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:72908800-72942800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr9:72909200-72927400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:72910000-72922600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:72910200-72924600	Weak transcription	Psoas Muscle	Psoas
23	chr9:72910800-72929400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:72911200-72924000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:72911400-72930000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:72911600-72925000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:72911800-72923200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr9:72912000-72927400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr9:72912000-72943000	Strong transcription	HSMM	muscle
30	chr9:72912200-72924400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:72912200-72925800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:72912200-72927600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr9:72912200-72929200	Strong transcription	Osteobl	bone
34	chr9:72912400-72923000	Strong transcription	Fetal Lung	lung
35	chr9:72912400-72930600	Strong transcription	Fetal Intestine Large	intestine
36	chr9:72912600-72947800	Strong transcription	Placenta	Placenta
37	chr9:72912800-72927600	Strong transcription	Fetal Thymus	thymus
38	chr9:72913600-72928800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:72913600-72928800	Weak transcription	Colon Smooth Muscle	Colon
40	chr9:72913800-72957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:72914000-72929400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:72915000-72927400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr9:72915400-72935200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:72915600-72923200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr9:72915800-72922600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr9:72916600-72922800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:72916800-72923400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr9:72917000-72924000	Weak transcription	NHEK	skin
49	chr9:72917000-72935200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:72917200-72922600	Weak transcription	Colonic Mucosa	Colon

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