Variant report

Variant	rs6663278
Chromosome Location	chr1:92779292-92779293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10159094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10747503	0.80[ASN][1000 genomes]
rs10875209	1.00[JPT][hapmap]
rs10875214	1.00[JPT][hapmap]
rs10875319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875349	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164226	0.90[ASN][1000 genomes]
rs11164288	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164312	0.90[ASN][1000 genomes]
rs11164349	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11164546	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1157470	1.00[JPT][hapmap]
rs11577572	1.00[JPT][hapmap]
rs11577839	0.90[ASN][1000 genomes]
rs11578012	0.90[ASN][1000 genomes]
rs11578400	0.90[ASN][1000 genomes]
rs11585255	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11586989	0.80[ASN][1000 genomes]
rs11588044	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11588153	1.00[JPT][hapmap]
rs11589858	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11803383	0.84[EUR][1000 genomes]
rs11803457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024731	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12086394	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094293	0.90[ASN][1000 genomes]
rs12119246	1.00[JPT][hapmap]
rs1226183	1.00[JPT][hapmap]
rs12401372	0.90[ASN][1000 genomes]
rs12404806	1.00[JPT][hapmap]
rs12407622	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12727665	0.90[ASN][1000 genomes]
rs12729867	1.00[JPT][hapmap]
rs12731923	0.90[ASN][1000 genomes]
rs12735898	0.90[ASN][1000 genomes]
rs12740246	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12755781	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12757533	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1483022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1487536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1542685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519972	1.00[JPT][hapmap]
rs1809606	0.90[ASN][1000 genomes]
rs1872007	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1982720	1.00[JPT][hapmap]
rs2004814	0.90[ASN][1000 genomes]
rs2046620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2087194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2093879	1.00[JPT][hapmap]
rs2391114	1.00[JPT][hapmap]
rs2391158	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2391161	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2391162	0.90[ASN][1000 genomes]
rs2839877	1.00[JPT][hapmap]
rs2893200	1.00[JPT][hapmap]
rs3103170	0.80[EUR][1000 genomes]
rs3103176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3103178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3103181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3118137	0.80[ASN][1000 genomes]
rs3122321	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3122323	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3122325	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3122327	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3131813	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3131814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131820	0.96[CEU][hapmap]
rs3131827	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3131828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34090353	0.90[ASN][1000 genomes]
rs35580949	0.90[ASN][1000 genomes]
rs3851271	1.00[JPT][hapmap]
rs3851272	1.00[JPT][hapmap]
rs3851273	1.00[JPT][hapmap]
rs3929737	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4393167	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414050	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437922	1.00[JPT][hapmap]
rs4658294	1.00[JPT][hapmap]
rs4658298	1.00[JPT][hapmap]
rs4658299	1.00[JPT][hapmap]
rs4658300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490800	1.00[JPT][hapmap]
rs492164	1.00[JPT][hapmap]
rs4949888	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4970699	0.90[ASN][1000 genomes]
rs4970713	0.90[ASN][1000 genomes]
rs504606	1.00[JPT][hapmap]
rs506375	1.00[JPT][hapmap]
rs511546	1.00[JPT][hapmap]
rs515280	1.00[JPT][hapmap]
rs519932	1.00[JPT][hapmap]
rs556980	1.00[JPT][hapmap]
rs563113	1.00[JPT][hapmap]
rs569593	1.00[JPT][hapmap]
rs570368	1.00[JPT][hapmap]
rs573044	1.00[JPT][hapmap]
rs575805	1.00[JPT][hapmap]
rs6603962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603971	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6604080	1.00[JPT][hapmap]
rs6604082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6604088	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662379	0.90[ASN][1000 genomes]
rs6663114	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6663118	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6663905	0.90[ASN][1000 genomes]
rs6668803	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689366	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6692287	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6702267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720457	0.90[ASN][1000 genomes]
rs733012	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745793	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517541	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518974	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520275	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524120	0.90[ASN][1000 genomes]
rs7533077	1.00[JPT][hapmap]
rs7539757	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7542358	1.00[JPT][hapmap]
rs7542373	1.00[JPT][hapmap]
rs7543947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545076	1.00[JPT][hapmap]
rs7550680	0.90[ASN][1000 genomes]
rs7554154	0.83[EUR][1000 genomes]
rs912794	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9439911	0.90[ASN][1000 genomes]
rs9440085	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9943178	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
3	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
4	chr1:92765600-92789600	Weak transcription	Psoas Muscle	Psoas
5	chr1:92765600-92791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:92765600-92791800	Weak transcription	Lung	lung
8	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
9	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
10	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
12	chr1:92765800-92786200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:92765800-92789000	Weak transcription	Ovary	ovary
14	chr1:92765800-92789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:92765800-92791600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:92765800-92791800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:92765800-92791800	Weak transcription	Gastric	stomach
18	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
19	chr1:92766000-92792000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:92766200-92789000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:92766400-92791600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:92767200-92779800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:92767200-92783600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:92767400-92783200	Weak transcription	Fetal Heart	heart
25	chr1:92768800-92779600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:92770600-92789000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:92770800-92783000	Weak transcription	HUVEC	blood vessel
28	chr1:92770800-92788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:92771000-92791400	Weak transcription	NHEK	skin
30	chr1:92771600-92782600	Weak transcription	K562	blood
31	chr1:92771800-92781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:92771800-92789000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:92771800-92789000	Weak transcription	A549	lung
34	chr1:92771800-92794800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:92771800-92823800	Weak transcription	Colonic Mucosa	Colon
36	chr1:92772000-92789000	Weak transcription	HepG2	liver
37	chr1:92772000-92789400	Weak transcription	Fetal Brain Male	brain
38	chr1:92772600-92781400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:92773000-92800800	Weak transcription	NHDF-Ad	bronchial
40	chr1:92773200-92781000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:92773600-92786200	Weak transcription	Brain Germinal Matrix	brain
42	chr1:92773800-92785800	Weak transcription	Liver	Liver
43	chr1:92773800-92791800	Weak transcription	NHLF	lung
44	chr1:92774000-92786200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:92774000-92791800	Weak transcription	Brain Anterior Caudate	brain
46	chr1:92774200-92779400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:92774200-92780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:92774200-92786000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:92774200-92786200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:92774200-92788800	Weak transcription	Left Ventricle	heart

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