Variant report

Variant	rs13006880
Chromosome Location	chr2:32355539-32355540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11676456	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11691939	0.81[EUR][1000 genomes]
rs13006495	0.82[EUR][1000 genomes]
rs13013695	0.90[EUR][1000 genomes]
rs177082	0.82[EUR][1000 genomes]
rs212689	0.82[EUR][1000 genomes]
rs212690	0.82[EUR][1000 genomes]
rs212691	0.82[EUR][1000 genomes]
rs212696	0.82[EUR][1000 genomes]
rs212702	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2294178	0.82[EUR][1000 genomes]
rs34197800	0.82[EUR][1000 genomes]
rs35978916	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs462878	0.82[EUR][1000 genomes]
rs56322034	0.83[EUR][1000 genomes]
rs6756085	0.81[EUR][1000 genomes]
rs7574000	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv873779	chr2:32330885-32372245	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:32297600-32360600	Weak transcription	Osteobl	bone
3	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
4	chr2:32313200-32360600	Weak transcription	NH-A	brain
5	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
7	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
8	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:32331600-32390200	Weak transcription	Gastric	stomach
10	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
11	chr2:32331800-32360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:32332200-32361400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:32332200-32362400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:32333000-32358200	Weak transcription	A549	lung
17	chr2:32333000-32372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:32336800-32356800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:32337200-32356800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:32340000-32360800	Weak transcription	Hela-S3	cervix
22	chr2:32342200-32372400	Weak transcription	Esophagus	oesophagus
23	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
24	chr2:32344200-32389600	Weak transcription	HMEC	breast
25	chr2:32344800-32360600	Weak transcription	NHEK	skin
26	chr2:32344800-32368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:32347000-32356600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:32347200-32356200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:32347600-32355800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:32348000-32358200	Strong transcription	Primary B cells from cord blood	blood
31	chr2:32348200-32358000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:32348400-32359200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:32348600-32358200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:32348800-32356200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:32348800-32357400	Strong transcription	Fetal Intestine Large	intestine
36	chr2:32349200-32369400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:32349400-32358200	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:32349800-32355800	Weak transcription	Fetal Heart	heart
39	chr2:32349800-32356200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:32349800-32358600	Strong transcription	Liver	Liver
41	chr2:32350400-32357600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:32350400-32359800	Strong transcription	Fetal Stomach	stomach
43	chr2:32350400-32360000	Strong transcription	Fetal Intestine Small	intestine
44	chr2:32350600-32357200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:32350800-32355600	Strong transcription	Brain Germinal Matrix	brain
46	chr2:32350800-32357400	Strong transcription	Thymus	Thymus
47	chr2:32351200-32357000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:32351200-32358800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:32351400-32359800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:32351600-32357600	Strong transcription	Fetal Muscle Trunk	muscle

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