Variant report

Variant	rs13392513
Chromosome Location	chr2:64290732-64290733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10167126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13412867	0.92[EUR][1000 genomes]
rs1440005	0.86[EUR][1000 genomes]
rs17028348	0.81[EUR][1000 genomes]
rs1975295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1975296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2422112	1.00[EUR][1000 genomes]
rs2901644	1.00[EUR][1000 genomes]
rs35121160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4507090	1.00[EUR][1000 genomes]
rs61389158	1.00[EUR][1000 genomes]
rs73935051	0.93[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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64277400-64291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:64281600-64290800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:64281600-64291200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:64285600-64290800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:64285800-64290800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:64285800-64290800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:64285800-64291000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:64288400-64290800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:64288400-64291000	Weak transcription	Pancreas	Pancrea
10	chr2:64289400-64293000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:64289600-64290800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:64289600-64291200	Enhancers	HSMM	muscle
13	chr2:64289600-64292000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:64289600-64292000	Enhancers	Osteobl	bone
15	chr2:64289600-64292200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:64289600-64293000	Enhancers	NHEK	skin
17	chr2:64290000-64290800	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:64290000-64291000	Enhancers	HUVEC	blood vessel
19	chr2:64290000-64291200	Enhancers	Gastric	stomach
20	chr2:64290000-64291200	Enhancers	HepG2	liver
21	chr2:64290000-64292200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:64290000-64292800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:64290000-64292800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:64290000-64293000	Enhancers	Fetal Thymus	thymus
25	chr2:64290000-64293200	Enhancers	Placenta	Placenta
26	chr2:64290200-64290800	Enhancers	Hela-S3	cervix
27	chr2:64290200-64290800	Enhancers	NH-A	brain
28	chr2:64290200-64291000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:64290200-64291200	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:64290200-64291800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:64290200-64291800	Enhancers	HSMMtube	muscle
32	chr2:64290200-64292200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:64290200-64292200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:64290200-64292400	Enhancers	Thymus	Thymus
35	chr2:64290200-64292400	Enhancers	NHLF	lung
36	chr2:64290200-64292800	Enhancers	Primary T cells from cord blood	blood
37	chr2:64290200-64292800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:64290200-64292800	Enhancers	K562	blood
39	chr2:64290200-64293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:64290200-64293000	Enhancers	HMEC	breast
41	chr2:64290400-64290800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:64290400-64291000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:64290400-64291800	Enhancers	Stomach Mucosa	stomach
44	chr2:64290400-64291800	Enhancers	NHDF-Ad	bronchial
45	chr2:64290400-64292000	Enhancers	Fetal Lung	lung
46	chr2:64290600-64291200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr2:64290600-64291400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:64290600-64291600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:64290600-64291600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:64290600-64291800	Enhancers	HUES64 Cell Line	embryonic stem cell

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