Variant report

Variant	rs73020554
Chromosome Location	chr1:165709743-165709744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs55703820	1.00[AFR][1000 genomes]
rs55763123	1.00[AFR][1000 genomes]
rs55785560	1.00[AFR][1000 genomes]
rs55869604	0.90[AFR][1000 genomes]
rs56113452	0.90[AFR][1000 genomes]
rs56126827	0.90[AFR][1000 genomes]
rs56160106	1.00[AFR][1000 genomes]
rs56207262	0.90[AFR][1000 genomes]
rs56317347	1.00[AFR][1000 genomes]
rs56793439	0.81[AFR][1000 genomes]
rs57135493	1.00[AFR][1000 genomes]
rs57611554	1.00[AFR][1000 genomes]
rs57979453	1.00[AFR][1000 genomes]
rs58307614	1.00[AFR][1000 genomes]
rs58503878	1.00[AFR][1000 genomes]
rs58638396	1.00[AFR][1000 genomes]
rs58666827	1.00[AFR][1000 genomes]
rs58892651	1.00[AFR][1000 genomes]
rs58958766	0.90[AFR][1000 genomes]
rs59221529	0.90[AFR][1000 genomes]
rs59679171	0.90[AFR][1000 genomes]
rs59859859	1.00[AFR][1000 genomes]
rs60019343	1.00[AFR][1000 genomes]
rs60116921	1.00[AFR][1000 genomes]
rs60367670	1.00[AFR][1000 genomes]
rs60421446	0.90[AFR][1000 genomes]
rs60720624	1.00[AFR][1000 genomes]
rs60728589	1.00[AFR][1000 genomes]
rs61131936	0.90[AFR][1000 genomes]
rs61190462	0.90[AFR][1000 genomes]
rs61621288	1.00[AFR][1000 genomes]
rs73014620	0.90[AFR][1000 genomes]
rs73014623	0.80[AFR][1000 genomes]
rs73014625	0.90[AFR][1000 genomes]
rs73014627	0.90[AFR][1000 genomes]
rs73014628	0.90[AFR][1000 genomes]
rs73014631	0.90[AFR][1000 genomes]
rs73014633	0.90[AFR][1000 genomes]
rs73014634	0.90[AFR][1000 genomes]
rs73014636	0.90[AFR][1000 genomes]
rs73014642	0.90[AFR][1000 genomes]
rs73014644	0.90[AFR][1000 genomes]
rs73014656	0.81[AFR][1000 genomes]
rs73014658	0.81[AFR][1000 genomes]
rs73018602	1.00[AFR][1000 genomes]
rs73020504	1.00[AFR][1000 genomes]
rs73020507	1.00[AFR][1000 genomes]
rs73020508	1.00[AFR][1000 genomes]
rs73020510	1.00[AFR][1000 genomes]
rs73020512	1.00[AFR][1000 genomes]
rs73020513	1.00[AFR][1000 genomes]
rs73020514	1.00[AFR][1000 genomes]
rs73020516	1.00[AFR][1000 genomes]
rs73020519	0.90[AFR][1000 genomes]
rs73020525	1.00[AFR][1000 genomes]
rs73020527	1.00[AFR][1000 genomes]
rs73020529	1.00[AFR][1000 genomes]
rs73020530	1.00[AFR][1000 genomes]
rs73020532	1.00[AFR][1000 genomes]
rs73020541	1.00[AFR][1000 genomes]
rs73020543	1.00[AFR][1000 genomes]
rs73020550	1.00[AFR][1000 genomes]
rs73020551	1.00[AFR][1000 genomes]
rs73022512	1.00[AFR][1000 genomes]
rs73022513	1.00[AFR][1000 genomes]
rs73022516	1.00[AFR][1000 genomes]
rs73022517	1.00[AFR][1000 genomes]
rs73022519	1.00[AFR][1000 genomes]
rs73022524	1.00[AFR][1000 genomes]
rs73022525	1.00[AFR][1000 genomes]
rs73022526	1.00[AFR][1000 genomes]
rs73022529	1.00[AFR][1000 genomes]
rs73022530	1.00[AFR][1000 genomes]
rs73022535	1.00[AFR][1000 genomes]
rs73022537	1.00[AFR][1000 genomes]
rs73022540	1.00[AFR][1000 genomes]
rs73022541	1.00[AFR][1000 genomes]
rs73022543	1.00[AFR][1000 genomes]
rs73022544	1.00[AFR][1000 genomes]
rs73022547	1.00[AFR][1000 genomes]
rs73022548	1.00[AFR][1000 genomes]
rs73022550	1.00[AFR][1000 genomes]
rs73022551	0.91[AFR][1000 genomes]
rs73022552	1.00[AFR][1000 genomes]
rs73022554	1.00[AFR][1000 genomes]
rs73022555	1.00[AFR][1000 genomes]
rs73022557	1.00[AFR][1000 genomes]
rs73022559	0.90[AFR][1000 genomes]
rs73022561	0.90[AFR][1000 genomes]
rs73022562	0.90[AFR][1000 genomes]
rs73022565	0.90[AFR][1000 genomes]
rs73022566	0.90[AFR][1000 genomes]
rs74121417	1.00[AFR][1000 genomes]
rs74121428	1.00[AFR][1000 genomes]
rs74121432	1.00[AFR][1000 genomes]
rs74121442	1.00[AFR][1000 genomes]
rs74121471	0.80[AFR][1000 genomes]
rs74121472	1.00[AFR][1000 genomes]
rs74121477	0.90[AFR][1000 genomes]
rs74121484	0.90[AFR][1000 genomes]
rs74121488	0.90[AFR][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
4	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:165690200-165710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:165691000-165710000	Weak transcription	Fetal Kidney	kidney
8	chr1:165694000-165709800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:165694000-165709800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:165694000-165711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:165694200-165709800	Weak transcription	Colonic Mucosa	Colon
12	chr1:165694200-165709800	Weak transcription	Pancreas	Pancrea
13	chr1:165694200-165709800	Weak transcription	Spleen	Spleen
14	chr1:165694200-165710000	Weak transcription	NHEK	skin
15	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
16	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
17	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:165694600-165709800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:165694600-165711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:165694600-165711000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:165694800-165709800	Weak transcription	Small Intestine	intestine
23	chr1:165695600-165709800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:165695800-165712000	Weak transcription	Psoas Muscle	Psoas
25	chr1:165696000-165709800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:165696000-165721600	Weak transcription	Gastric	stomach
27	chr1:165696800-165709800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:165696800-165709800	Weak transcription	Brain Germinal Matrix	brain
29	chr1:165696800-165709800	Weak transcription	NHLF	lung
30	chr1:165697200-165709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:165697200-165710400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:165697400-165709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:165697400-165709800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:165697400-165709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:165697400-165709800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:165697400-165709800	Weak transcription	HMEC	breast
37	chr1:165697400-165709800	Weak transcription	HSMMtube	muscle
38	chr1:165697400-165710000	Weak transcription	NHDF-Ad	bronchial
39	chr1:165697600-165709800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:165698000-165709800	Weak transcription	Brain Anterior Caudate	brain
41	chr1:165698000-165709800	Weak transcription	Placenta	Placenta
42	chr1:165698200-165709800	Weak transcription	Stomach Mucosa	stomach
43	chr1:165699800-165721600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:165702800-165714600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:165703200-165709800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:165705200-165710800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:165705200-165715800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:165705600-165709800	Weak transcription	NH-A	brain
50	chr1:165706400-165709800	Weak transcription	Ovary	ovary

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