Variant report

Variant	rs4495496
Chromosome Location	chr9:72742412-72742413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10114215	0.89[ASN][1000 genomes]
rs10511979	0.92[ASN][1000 genomes]
rs1073540	0.85[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes]
rs1112232	0.92[ASN][1000 genomes]
rs11142368	0.81[CHB][hapmap]
rs1180102	0.81[CHB][hapmap]
rs1180104	0.81[CHB][hapmap]
rs1180105	0.81[CHB][hapmap]
rs1180117	0.81[CHB][hapmap]
rs11998951	0.81[CHB][hapmap]
rs12002407	0.92[ASN][1000 genomes]
rs12003971	0.93[ASN][1000 genomes]
rs12006212	0.81[CHB][hapmap]
rs12683706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12683986	0.90[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes]
rs12684301	1.00[AMR][1000 genomes]
rs12684987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12685322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12685441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12685491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12685534	1.00[AMR][1000 genomes]
rs12685632	0.84[ASN][1000 genomes]
rs12685937	0.82[ASN][1000 genomes]
rs12685939	0.84[ASN][1000 genomes]
rs12686312	0.87[AMR][1000 genomes]
rs12686383	0.93[ASN][1000 genomes]
rs12686573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12686584	0.87[AMR][1000 genomes]
rs12686668	0.92[ASN][1000 genomes]
rs12686850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051696	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052443	0.85[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes]
rs17052748	0.85[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes]
rs17087686	0.87[ASN][1000 genomes]
rs17088796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17088840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17088889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17088905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17523363	0.84[ASN][1000 genomes]
rs1927105	0.95[ASN][1000 genomes]
rs1927110	0.95[ASN][1000 genomes]
rs1927116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1927117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1927119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1927142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1927148	0.81[CHB][hapmap]
rs1927150	0.85[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1986412	0.92[ASN][1000 genomes]
rs2001235	0.90[ASN][1000 genomes]
rs2026138	0.87[AMR][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]
rs2148865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2182732	1.00[AMR][1000 genomes]
rs2296772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309584	0.92[ASN][1000 genomes]
rs2871290	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2871295	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2975866	0.93[ASN][1000 genomes]
rs2975867	0.93[ASN][1000 genomes]
rs2975868	0.93[ASN][1000 genomes]
rs2975880	0.95[ASN][1000 genomes]
rs2975884	0.95[ASN][1000 genomes]
rs2975911	0.84[ASN][1000 genomes]
rs2997668	0.86[ASN][1000 genomes]
rs2997679	0.92[ASN][1000 genomes]
rs2997681	0.89[ASN][1000 genomes]
rs2997714	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015165	0.88[ASN][1000 genomes]
rs3015169	0.89[ASN][1000 genomes]
rs3015170	0.89[ASN][1000 genomes]
rs3015171	0.87[ASN][1000 genomes]
rs3015173	0.89[ASN][1000 genomes]
rs3015174	0.89[ASN][1000 genomes]
rs3015175	0.90[ASN][1000 genomes]
rs3015177	0.90[ASN][1000 genomes]
rs3015180	0.92[ASN][1000 genomes]
rs3015181	0.92[ASN][1000 genomes]
rs3015182	0.92[ASN][1000 genomes]
rs3015184	0.93[ASN][1000 genomes]
rs3015185	0.93[ASN][1000 genomes]
rs3015186	0.93[ASN][1000 genomes]
rs3015189	0.93[ASN][1000 genomes]
rs3015198	0.95[ASN][1000 genomes]
rs3015204	0.95[ASN][1000 genomes]
rs3015207	0.95[ASN][1000 genomes]
rs3015213	0.95[ASN][1000 genomes]
rs3015223	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34061327	0.87[AMR][1000 genomes]
rs35188046	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35508139	0.87[AMR][1000 genomes]
rs3739773	0.87[AMR][1000 genomes]
rs3739774	0.87[AMR][1000 genomes]
rs3829096	0.83[ASN][1000 genomes]
rs4069793	0.87[AMR][1000 genomes]
rs4287005	0.87[AMR][1000 genomes]
rs4289878	0.93[ASN][1000 genomes]
rs4410968	1.00[AMR][1000 genomes]
rs4439194	1.00[AMR][1000 genomes]
rs4449855	0.81[CHB][hapmap]
rs4460447	0.95[ASN][1000 genomes]
rs4596711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4602958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4606121	0.87[AMR][1000 genomes]
rs4610818	0.87[AMR][1000 genomes]
rs4621877	0.87[AMR][1000 genomes]
rs4744982	0.91[ASN][1000 genomes]
rs56735283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56860643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57048128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57398306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57477024	0.93[AMR][1000 genomes]
rs58085049	0.90[ASN][1000 genomes]
rs58219953	0.87[AMR][1000 genomes]
rs58660710	0.84[ASN][1000 genomes]
rs58948879	0.87[AMR][1000 genomes]
rs58969772	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58976318	0.87[AMR][1000 genomes]
rs59010963	0.87[AMR][1000 genomes]
rs59189596	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59444215	0.87[AMR][1000 genomes]
rs59546243	0.87[AMR][1000 genomes]
rs59589460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59619263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59960592	0.81[AMR][1000 genomes]
rs60049462	0.87[AMR][1000 genomes]
rs60391643	0.93[AMR][1000 genomes]
rs60458589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61265226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61416419	0.86[ASN][1000 genomes]
rs7022893	0.89[ASN][1000 genomes]
rs7034322	0.81[CHB][hapmap]
rs7046167	0.86[AMR][1000 genomes]
rs716535	0.85[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes]
rs72709197	0.84[ASN][1000 genomes]
rs72709200	0.84[ASN][1000 genomes]
rs72710469	0.90[ASN][1000 genomes]
rs72710483	0.93[ASN][1000 genomes]
rs745852	0.95[ASN][1000 genomes]
rs753022	1.00[AMR][1000 genomes]
rs753023	1.00[AMR][1000 genomes]
rs7858988	0.81[CHB][hapmap]
rs867595	0.90[ASN][1000 genomes]
rs943536	0.81[CHB][hapmap]
rs943540	0.81[CHB][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	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:72724400-72742600	Weak transcription	Right Ventricle	heart
3	chr9:72725600-72745200	Weak transcription	Lung	lung
4	chr9:72725800-72742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:72726200-72749200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:72727200-72746600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:72728600-72746800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:72729200-72744800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:72733200-72745000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:72733800-72748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:72736200-72745000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:72736200-72746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:72736200-72747400	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:72736200-72748800	Weak transcription	Fetal Brain Female	brain
21	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:72736600-72744600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:72737000-72744200	Strong transcription	Colon Smooth Muscle	Colon
24	chr9:72737000-72748000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:72737200-72745200	Strong transcription	HSMMtube	muscle
26	chr9:72738000-72742600	Enhancers	HepG2	liver
27	chr9:72738200-72750400	Weak transcription	Fetal Intestine Small	intestine
28	chr9:72739000-72749000	Weak transcription	Gastric	stomach
29	chr9:72740000-72743400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:72740200-72746200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:72740400-72743200	Enhancers	Fetal Lung	lung
32	chr9:72740400-72750000	Weak transcription	NH-A	brain
33	chr9:72740600-72766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:72740800-72744000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:72741000-72742800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:72741000-72745200	Weak transcription	Fetal Intestine Large	intestine
37	chr9:72741000-72758600	Weak transcription	Colonic Mucosa	Colon
38	chr9:72741200-72743400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:72741200-72743400	Enhancers	Osteobl	bone
40	chr9:72741400-72743400	Strong transcription	HMEC	breast
41	chr9:72741400-72744600	Weak transcription	NHEK	skin
42	chr9:72741400-72765600	Weak transcription	Esophagus	oesophagus
43	chr9:72741600-72742800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr9:72741600-72744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:72741600-72744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:72741600-72744800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:72741600-72745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:72741600-72747400	Weak transcription	HSMM	muscle
49	chr9:72741600-72749400	Weak transcription	Fetal Stomach	stomach
50	chr9:72741600-72751600	Weak transcription	NHLF	lung

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