Variant report

Variant	rs73022562
Chromosome Location	chr1:165722860-165722861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165720854..165729861-chr1:165736355..165740477,8	K562	blood:
2	chr1:165722333..165726093-chr1:165736872..165739220,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55703820	0.90[AFR][1000 genomes]
rs55763123	0.90[AFR][1000 genomes]
rs55767704	0.86[AFR][1000 genomes]
rs55785560	0.90[AFR][1000 genomes]
rs55869604	1.00[AFR][1000 genomes]
rs56113452	0.80[AFR][1000 genomes]
rs56126827	1.00[AFR][1000 genomes]
rs56160106	0.90[AFR][1000 genomes]
rs56207262	1.00[AFR][1000 genomes]
rs56317347	0.90[AFR][1000 genomes]
rs56793439	0.90[AFR][1000 genomes]
rs57135493	0.90[AFR][1000 genomes]
rs57611554	0.90[AFR][1000 genomes]
rs57979453	0.90[AFR][1000 genomes]
rs58307614	0.90[AFR][1000 genomes]
rs58503878	0.90[AFR][1000 genomes]
rs58638396	0.90[AFR][1000 genomes]
rs58666827	0.90[AFR][1000 genomes]
rs58892651	0.90[AFR][1000 genomes]
rs58958766	1.00[AFR][1000 genomes]
rs59221529	1.00[AFR][1000 genomes]
rs59679171	1.00[AFR][1000 genomes]
rs59859859	0.90[AFR][1000 genomes]
rs60019343	0.90[AFR][1000 genomes]
rs60116921	0.90[AFR][1000 genomes]
rs60367670	0.90[AFR][1000 genomes]
rs60421446	1.00[AFR][1000 genomes]
rs60720624	0.90[AFR][1000 genomes]
rs60728589	0.90[AFR][1000 genomes]
rs61131936	1.00[AFR][1000 genomes]
rs61190462	1.00[AFR][1000 genomes]
rs61621288	0.90[AFR][1000 genomes]
rs73014620	1.00[AFR][1000 genomes]
rs73014623	0.90[AFR][1000 genomes]
rs73014625	1.00[AFR][1000 genomes]
rs73014627	1.00[AFR][1000 genomes]
rs73014628	1.00[AFR][1000 genomes]
rs73014631	1.00[AFR][1000 genomes]
rs73014633	1.00[AFR][1000 genomes]
rs73014634	1.00[AFR][1000 genomes]
rs73014636	1.00[AFR][1000 genomes]
rs73014642	1.00[AFR][1000 genomes]
rs73014644	1.00[AFR][1000 genomes]
rs73014656	0.90[AFR][1000 genomes]
rs73014658	0.90[AFR][1000 genomes]
rs73018602	0.90[AFR][1000 genomes]
rs73020504	0.90[AFR][1000 genomes]
rs73020507	0.90[AFR][1000 genomes]
rs73020508	0.90[AFR][1000 genomes]
rs73020510	0.90[AFR][1000 genomes]
rs73020512	0.90[AFR][1000 genomes]
rs73020513	0.90[AFR][1000 genomes]
rs73020514	0.90[AFR][1000 genomes]
rs73020516	0.90[AFR][1000 genomes]
rs73020519	0.80[AFR][1000 genomes]
rs73020525	0.90[AFR][1000 genomes]
rs73020527	0.90[AFR][1000 genomes]
rs73020529	0.90[AFR][1000 genomes]
rs73020530	0.90[AFR][1000 genomes]
rs73020532	0.90[AFR][1000 genomes]
rs73020541	0.90[AFR][1000 genomes]
rs73020543	0.90[AFR][1000 genomes]
rs73020550	0.90[AFR][1000 genomes]
rs73020551	0.90[AFR][1000 genomes]
rs73020554	0.90[AFR][1000 genomes]
rs73022512	0.90[AFR][1000 genomes]
rs73022513	0.90[AFR][1000 genomes]
rs73022516	0.90[AFR][1000 genomes]
rs73022517	0.90[AFR][1000 genomes]
rs73022519	0.90[AFR][1000 genomes]
rs73022524	0.90[AFR][1000 genomes]
rs73022525	0.90[AFR][1000 genomes]
rs73022526	0.90[AFR][1000 genomes]
rs73022529	0.90[AFR][1000 genomes]
rs73022530	0.90[AFR][1000 genomes]
rs73022535	0.90[AFR][1000 genomes]
rs73022537	0.90[AFR][1000 genomes]
rs73022540	0.90[AFR][1000 genomes]
rs73022541	0.90[AFR][1000 genomes]
rs73022543	0.90[AFR][1000 genomes]
rs73022544	0.90[AFR][1000 genomes]
rs73022547	0.90[AFR][1000 genomes]
rs73022548	0.90[AFR][1000 genomes]
rs73022550	0.90[AFR][1000 genomes]
rs73022551	0.82[AFR][1000 genomes]
rs73022552	0.90[AFR][1000 genomes]
rs73022554	0.90[AFR][1000 genomes]
rs73022555	0.90[AFR][1000 genomes]
rs73022557	0.90[AFR][1000 genomes]
rs73022559	1.00[AFR][1000 genomes]
rs73022561	1.00[AFR][1000 genomes]
rs73022565	1.00[AFR][1000 genomes]
rs73022566	1.00[AFR][1000 genomes]
rs74121417	0.90[AFR][1000 genomes]
rs74121428	0.90[AFR][1000 genomes]
rs74121432	0.90[AFR][1000 genomes]
rs74121442	0.90[AFR][1000 genomes]
rs74121472	0.90[AFR][1000 genomes]
rs74121477	1.00[AFR][1000 genomes]
rs74121484	1.00[AFR][1000 genomes]
rs74121488	1.00[AFR][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	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
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:165710400-165727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:165712400-165726800	Weak transcription	Fetal Lung	lung
8	chr1:165712400-165727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:165712400-165727200	Weak transcription	HMEC	breast
10	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
11	chr1:165713400-165733600	Weak transcription	NHEK	skin
12	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:165716800-165728000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:165717000-165724000	Strong transcription	Osteobl	bone
15	chr1:165717400-165724200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:165717400-165728000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:165718000-165725800	Weak transcription	HSMM	muscle
18	chr1:165718400-165725000	Weak transcription	Primary B cells from cord blood	blood
19	chr1:165718800-165725600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:165719400-165723600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:165719600-165725000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:165720000-165725600	Strong transcription	Dnd41	blood
23	chr1:165720200-165723600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:165720200-165725600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr1:165720800-165733400	Weak transcription	A549	lung
26	chr1:165721400-165723400	Strong transcription	Fetal Brain Female	brain
27	chr1:165721400-165725000	Strong transcription	NHLF	lung
28	chr1:165721600-165723800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:165721800-165723000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:165721800-165723000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:165721800-165723000	Strong transcription	Gastric	stomach
32	chr1:165721800-165723000	Strong transcription	Lung	lung
33	chr1:165721800-165723000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:165721800-165723000	Strong transcription	Thymus	Thymus
35	chr1:165721800-165723000	Strong transcription	Spleen	Spleen
36	chr1:165721800-165723200	Strong transcription	Colon Smooth Muscle	Colon
37	chr1:165721800-165723400	Strong transcription	Fetal Stomach	stomach
38	chr1:165721800-165723600	Strong transcription	Ovary	ovary
39	chr1:165721800-165723600	Strong transcription	K562	blood
40	chr1:165721800-165724000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:165721800-165724000	Weak transcription	Primary T cells from cord blood	blood
42	chr1:165721800-165724000	Strong transcription	Placenta	Placenta
43	chr1:165721800-165724200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:165721800-165724200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:165721800-165724200	Strong transcription	Liver	Liver
46	chr1:165721800-165724200	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:165721800-165724200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:165721800-165724200	Strong transcription	Fetal Thymus	thymus
49	chr1:165721800-165724200	Strong transcription	Hela-S3	cervix
50	chr1:165721800-165724400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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