Variant report

Variant	rs66570372
Chromosome Location	chr2:73270106-73270107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73263570..73266095-chr2:73269453..73271699,3	K562	blood:
2	chr2:73267398..73270364-chr2:73271412..73273216,2	MCF-7	breast:
3	chr2:73267482..73270454-chr2:73289575..73291356,2	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1046183	0.83[AMR][1000 genomes]
rs10496188	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13404068	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17008541	0.94[EUR][1000 genomes]
rs17008565	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17008579	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17008608	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421099	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3849393	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58731407	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59108557	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59802755	0.81[AMR][1000 genomes]
rs61164794	0.93[EUR][1000 genomes]
rs61652727	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147718	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147722	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62147726	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62147727	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147728	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147731	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62147733	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147735	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62147756	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62148130	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6710911	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6753054	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6753133	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6753301	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67673165	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
6	chr2:73247400-73283800	Weak transcription	Dnd41	blood
7	chr2:73248200-73277200	Weak transcription	HMEC	breast
8	chr2:73249000-73270200	Weak transcription	Fetal Thymus	thymus
9	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
11	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
12	chr2:73249600-73271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:73249600-73277000	Weak transcription	NH-A	brain
14	chr2:73249600-73290000	Weak transcription	NHLF	lung
15	chr2:73250000-73277200	Weak transcription	HSMMtube	muscle
16	chr2:73250200-73271400	Weak transcription	Thymus	Thymus
17	chr2:73250200-73284200	Weak transcription	Ovary	ovary
18	chr2:73250400-73277200	Weak transcription	Placenta	Placenta
19	chr2:73250800-73271400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:73250800-73276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:73253200-73280800	Weak transcription	Fetal Lung	lung
22	chr2:73256400-73271000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:73256800-73279400	Weak transcription	Osteobl	bone
24	chr2:73256800-73280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:73256800-73290000	Weak transcription	HSMM	muscle
26	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
27	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:73260600-73284400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:73260800-73279200	Weak transcription	Fetal Intestine Large	intestine
30	chr2:73260800-73283800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:73261400-73282000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:73261400-73284200	Weak transcription	Gastric	stomach
33	chr2:73262200-73271000	Weak transcription	Primary T cells from cord blood	blood
34	chr2:73262400-73280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:73262800-73290600	Weak transcription	NHEK	skin
36	chr2:73263800-73277000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:73263800-73277200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:73264000-73270200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:73264000-73270400	Weak transcription	Right Atrium	heart
40	chr2:73264000-73276600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:73264000-73276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:73264000-73280800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:73264200-73271200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:73264200-73271400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:73264400-73270200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:73264400-73270400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:73264400-73270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:73264400-73270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:73264400-73271400	Weak transcription	Brain Substantia Nigra	brain

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