Variant report

Variant	rs71523161
Chromosome Location	chr1:171868143-171868144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1015008	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1022541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1040517	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737337	0.82[ASN][1000 genomes]
rs10737338	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753202	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753203	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10753204	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753205	0.83[ASN][1000 genomes]
rs1076700	0.83[ASN][1000 genomes]
rs10798695	0.83[ASN][1000 genomes]
rs10798701	0.83[ASN][1000 genomes]
rs10798702	0.83[ASN][1000 genomes]
rs10798705	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798706	0.80[ASN][1000 genomes]
rs10798716	0.83[ASN][1000 genomes]
rs10798722	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798725	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798726	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913908	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1118173	0.83[ASN][1000 genomes]
rs12021814	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024869	0.87[EUR][1000 genomes]
rs12025243	0.84[EUR][1000 genomes]
rs12029015	0.86[EUR][1000 genomes]
rs12040254	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12047542	0.87[EUR][1000 genomes]
rs12405583	0.83[ASN][1000 genomes]
rs12747663	0.87[EUR][1000 genomes]
rs1535301	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555100	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1972340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980488	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2145383	0.87[EUR][1000 genomes]
rs2206543	0.83[ASN][1000 genomes]
rs2235696	0.83[ASN][1000 genomes]
rs2421915	0.83[ASN][1000 genomes]
rs2421947	0.83[ASN][1000 genomes]
rs2901600	0.83[ASN][1000 genomes]
rs34906981	0.94[EUR][1000 genomes]
rs4500358	0.83[ASN][1000 genomes]
rs4596936	0.94[EUR][1000 genomes]
rs4916235	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916400	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916401	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916402	0.83[ASN][1000 genomes]
rs4916403	0.83[ASN][1000 genomes]
rs4916404	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4916411	0.94[EUR][1000 genomes]
rs6425454	0.83[ASN][1000 genomes]
rs6425455	0.83[ASN][1000 genomes]
rs6425456	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425468	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425484	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6425518	0.87[EUR][1000 genomes]
rs6657315	0.83[ASN][1000 genomes]
rs6660011	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6665335	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6679341	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683945	0.83[ASN][1000 genomes]
rs6685974	0.83[ASN][1000 genomes]
rs6686260	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689231	0.91[EUR][1000 genomes]
rs6690848	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702944	0.83[ASN][1000 genomes]
rs742509	0.83[ASN][1000 genomes]
rs742510	0.83[ASN][1000 genomes]
rs7514627	0.83[ASN][1000 genomes]
rs7517331	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7526653	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7554700	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554935	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs926545	0.83[ASN][1000 genomes]
rs926546	0.82[ASN][1000 genomes]
rs965051	0.83[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171858400-171868200	Weak transcription	Left Ventricle	heart
2	chr1:171860600-171868200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:171862200-171868200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:171862200-171882600	Weak transcription	Aorta	Aorta
5	chr1:171866400-171868200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:171866400-171870800	Enhancers	Fetal Brain Male	brain
7	chr1:171867200-171868200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:171867200-171868800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:171867200-171870000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:171867400-171868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:171867800-171868200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:171867800-171868800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:171868000-171868200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:171868000-171868200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:171868000-171868200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:171868000-171868200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr1:171868000-171868200	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:171868000-171868200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr1:171868000-171868200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:171868000-171868200	Enhancers	Fetal Kidney	kidney
21	chr1:171868000-171868200	Active TSS	HMEC	breast
22	chr1:171868000-171868200	Enhancers	NHEK	skin
23	chr1:171868000-171868400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:171868000-171868400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:171868000-171868400	Enhancers	Esophagus	oesophagus
26	chr1:171868000-171868600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:171868000-171868600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:171868000-171868600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:171868000-171868600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr1:171868000-171868600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:171868000-171868600	Flanking Active TSS	Fetal Brain Female	brain
32	chr1:171868000-171868800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:171868000-171868800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:171868000-171868800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:171868000-171868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:171868000-171868800	Enhancers	Fetal Lung	lung
37	chr1:171868000-171869000	Active TSS	Brain Angular Gyrus	brain
38	chr1:171868000-171869200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:171868000-171869200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:171868000-171869200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:171868000-171869400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:171868000-171869400	Active TSS	Brain Substantia Nigra	brain

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