Variant report

Variant	rs574211
Chromosome Location	chr1:170038943-170038944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10127867	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12023275	0.95[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12563479	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12724797	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1330372	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1361088	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16862933	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1765696	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2152831	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273458	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2750014	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2806386	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs33943686	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4141917	0.88[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4656203	0.82[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs543894	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673712	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697581	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7418815	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517490	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs824668	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[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:60 , 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	chr1:170032800-170040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:170032800-170042400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:170032800-170042600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:170033800-170040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:170033800-170042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:170034200-170040200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:170036400-170042200	Weak transcription	NHEK	skin
14	chr1:170036600-170043000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:170036800-170039200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:170036800-170042600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:170037000-170039000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:170037000-170039400	Weak transcription	Fetal Brain Female	brain
19	chr1:170037000-170039600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:170037000-170040600	Weak transcription	Pancreas	Pancrea
21	chr1:170037000-170041600	Weak transcription	Right Ventricle	heart
22	chr1:170037000-170042600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:170037000-170042800	Weak transcription	Right Atrium	heart
24	chr1:170037000-170043000	Weak transcription	Left Ventricle	heart
25	chr1:170037000-170043200	Weak transcription	Small Intestine	intestine
26	chr1:170037200-170042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:170037200-170042600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:170037200-170042600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:170037200-170042600	Weak transcription	Fetal Thymus	thymus
30	chr1:170037200-170042600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:170037200-170042600	Weak transcription	HepG2	liver
32	chr1:170037200-170043200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:170037400-170042000	Weak transcription	K562	blood
34	chr1:170037400-170043000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:170037800-170039000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:170037800-170039000	Enhancers	Primary T cells from cord blood	blood
37	chr1:170037800-170042000	Weak transcription	Adipose Nuclei	Adipose
38	chr1:170037800-170042600	Weak transcription	Fetal Heart	heart
39	chr1:170038000-170043200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:170038400-170039000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:170038400-170039000	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:170038400-170041200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:170038400-170041600	Weak transcription	Osteobl	bone
44	chr1:170038400-170042200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:170038600-170039800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:170038600-170041400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:170038600-170041400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:170038600-170042000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:170038600-170042000	Weak transcription	NHLF	lung
50	chr1:170038600-170042600	Weak transcription	Rectal Mucosa Donor 29	rectum

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