Variant report

Variant	rs1360293
Chromosome Location	chr1:170037279-170037280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10489170	0.89[GIH][hapmap]
rs10800494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800495	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919260	0.85[GIH][hapmap]
rs10919270	0.86[ASW][hapmap];0.93[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];0.84[LWK][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap]
rs10919271	0.94[CEU][hapmap];0.90[CHB][hapmap]
rs10919272	0.93[CEU][hapmap];0.81[CHB][hapmap];0.96[GIH][hapmap];0.90[MKK][hapmap]
rs10919284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919289	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10919291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585754	0.88[JPT][hapmap]
rs11803298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11804170	0.94[CEU][hapmap];0.90[CHB][hapmap]
rs11807267	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11807405	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12116880	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12124607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12126204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137754	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12138675	0.89[GIH][hapmap]
rs12143011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144417	1.00[JPT][hapmap]
rs12146137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750962	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12754717	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13374766	0.88[JPT][hapmap]
rs17349726	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273457	0.86[JPT][hapmap]
rs28854261	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34866861	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35688996	0.89[CEU][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4656729	1.00[JPT][hapmap]
rs4656737	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs6427229	0.80[CEU][hapmap];0.81[CHB][hapmap];0.96[GIH][hapmap]
rs6427233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658442	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674620	1.00[JPT][hapmap]
rs6678382	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6688806	0.81[CEU][hapmap]
rs6694135	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688100	1.00[JPT][hapmap]
rs7514634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7521273	1.00[ASW][hapmap];0.93[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540497	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7555871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:170018200-170042400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:170018800-170040600	Weak transcription	Aorta	Aorta
4	chr1:170019000-170041400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:170019000-170042600	Weak transcription	Thymus	Thymus
6	chr1:170019200-170042400	Weak transcription	Fetal Lung	lung
7	chr1:170024400-170037800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:170032800-170040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:170032800-170042400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:170032800-170042600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:170033800-170040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:170033800-170042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:170034200-170040200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:170035600-170037400	Enhancers	K562	blood
15	chr1:170035600-170037600	Enhancers	Dnd41	blood
16	chr1:170035800-170038600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:170035800-170038800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:170036000-170037800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:170036400-170037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:170036400-170037400	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:170036400-170037600	Enhancers	NHDF-Ad	bronchial
22	chr1:170036400-170037800	Enhancers	Fetal Heart	heart
23	chr1:170036400-170042200	Weak transcription	NHEK	skin
24	chr1:170036600-170037600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:170036600-170038400	Enhancers	Osteobl	bone
26	chr1:170036600-170038800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:170036600-170043000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:170036800-170037600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:170036800-170037600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:170036800-170037600	Enhancers	Liver	Liver
31	chr1:170036800-170039200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:170036800-170042600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:170037000-170037400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:170037000-170037400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:170037000-170037600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:170037000-170038000	Enhancers	NHLF	lung
37	chr1:170037000-170038200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:170037000-170038400	Weak transcription	HMEC	breast
39	chr1:170037000-170038600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:170037000-170039000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:170037000-170039400	Weak transcription	Fetal Brain Female	brain
42	chr1:170037000-170039600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:170037000-170040600	Weak transcription	Pancreas	Pancrea
44	chr1:170037000-170041600	Weak transcription	Right Ventricle	heart
45	chr1:170037000-170042600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:170037000-170042800	Weak transcription	Right Atrium	heart
47	chr1:170037000-170043000	Weak transcription	Left Ventricle	heart
48	chr1:170037000-170043200	Weak transcription	Small Intestine	intestine
49	chr1:170037200-170037400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:170037200-170037800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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