Variant report

Variant	rs59353759
Chromosome Location	chr2:178482771-178482772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178480859..178483355-chr2:178499342..178501117,2	K562	blood:
2	chr2:178076328..178078766-chr2:178482248..178484815,2	K562	blood:
3	chr2:178416378..178418708-chr2:178482397..178484777,2	MCF-7	breast:
4	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:

Variant related genes	Relation type
ENSG00000229337	Chromatin interaction
ENSG00000196659	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000263721	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11896332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949966	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1986843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57425089	0.86[EUR][1000 genomes]
rs57691380	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58101370	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58334841	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58442927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59274646	1.00[ASN][1000 genomes]
rs59903527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61306957	0.86[EUR][1000 genomes]
rs935427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv1815823	chr2:178479149-178489902	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases
6	nsv961914	chr2:178481282-178483895	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:178468400-178482800	Weak transcription	Fetal Brain Male	brain
3	chr2:178476400-178482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:178477800-178482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:178477800-178482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:178480000-178482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:178481200-178482800	Weak transcription	Gastric	stomach
8	chr2:178481200-178482800	Weak transcription	Right Atrium	heart
9	chr2:178481200-178482800	Weak transcription	GM12878-XiMat	blood
10	chr2:178481600-178482800	Weak transcription	Fetal Kidney	kidney
11	chr2:178481800-178482800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:178482200-178482800	Enhancers	Right Ventricle	heart
13	chr2:178482600-178482800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:178482600-178482800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:178482600-178482800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:178482600-178482800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:178482600-178482800	Enhancers	Primary B cells from cord blood	blood
18	chr2:178482600-178482800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr2:178482600-178482800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:178482600-178482800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:178482600-178482800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:178482600-178482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:178482600-178482800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:178482600-178482800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:178482600-178482800	Enhancers	Fetal Heart	heart
26	chr2:178482600-178482800	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:178482600-178482800	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr2:178482600-178482800	Enhancers	Placenta	Placenta
29	chr2:178482600-178482800	Enhancers	Fetal Thymus	thymus
30	chr2:178482600-178482800	Enhancers	Left Ventricle	heart
31	chr2:178482600-178482800	Enhancers	Lung	lung
32	chr2:178482600-178482800	Enhancers	Ovary	ovary
33	chr2:178482600-178482800	Enhancers	Pancreas	Pancrea
34	chr2:178482600-178482800	Enhancers	Psoas Muscle	Psoas
35	chr2:178482600-178482800	Enhancers	Stomach Mucosa	stomach
36	chr2:178482600-178482800	Enhancers	Hela-S3	cervix
37	chr2:178482600-178482800	Enhancers	HMEC	breast
38	chr2:178482600-178482800	Active TSS	HUVEC	blood vessel
39	chr2:178482600-178482800	Enhancers	K562	blood
40	chr2:178482600-178482800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:178482600-178483000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:178482600-178483000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:178482600-178483000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:178482600-178483000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:178482600-178483000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:178482600-178483000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr2:178482600-178483000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:178482600-178483000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:178482600-178483000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:178482600-178483000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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