Variant report

Variant	rs13430450
Chromosome Location	chr2:58316187-58316188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58310331..58313102-chr2:58313255..58316210,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10167028	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10198382	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10203887	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13001078	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13008111	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13033987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13384786	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13386998	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13392156	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13402655	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13414973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13424099	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17182870	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17183100	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28452374	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34287580	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35341336	0.83[EUR][1000 genomes]
rs3771214	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71418479	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71418480	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv527551	chr2:58311684-58317208	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
5	chr2:58275800-58316800	Weak transcription	HMEC	breast
6	chr2:58279000-58319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:58282600-58350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:58284200-58317600	Weak transcription	HepG2	liver
9	chr2:58284400-58325000	Weak transcription	NHEK	skin
10	chr2:58285200-58317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:58286200-58317600	Weak transcription	K562	blood
12	chr2:58286400-58317600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:58291200-58316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:58291600-58316200	Weak transcription	HUVEC	blood vessel
15	chr2:58291600-58317800	Weak transcription	HSMM	muscle
16	chr2:58291600-58317800	Weak transcription	NH-A	brain
17	chr2:58291600-58319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:58291600-58321800	Weak transcription	Fetal Thymus	thymus
19	chr2:58291600-58325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:58291800-58318800	Weak transcription	Osteobl	bone
21	chr2:58292000-58316200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:58292200-58316200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:58292200-58319000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:58292200-58319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:58294200-58320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:58297000-58316800	Weak transcription	Ovary	ovary
27	chr2:58297600-58319000	Weak transcription	Primary T cells from cord blood	blood
28	chr2:58297800-58316400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:58297800-58317000	Weak transcription	Fetal Intestine Large	intestine
30	chr2:58298000-58317600	Weak transcription	Left Ventricle	heart
31	chr2:58298200-58316200	Weak transcription	Fetal Lung	lung
32	chr2:58298200-58317000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:58301600-58319200	Weak transcription	Psoas Muscle	Psoas
34	chr2:58302400-58317200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:58302600-58316200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:58303000-58358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:58307600-58328600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:58308400-58316400	Weak transcription	A549	lung
39	chr2:58308600-58321600	Weak transcription	Lung	lung
40	chr2:58308600-58333600	Weak transcription	NHDF-Ad	bronchial
41	chr2:58309400-58324400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:58309800-58316200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:58310400-58320200	Weak transcription	Small Intestine	intestine
44	chr2:58310400-58326000	Weak transcription	Hela-S3	cervix
45	chr2:58311200-58382400	Weak transcription	Aorta	Aorta
46	chr2:58311400-58320000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:58312200-58316200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:58312200-58317600	Weak transcription	Fetal Heart	heart
49	chr2:58312200-58322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:58312200-58323200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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