Variant report

Variant	rs36079920
Chromosome Location	chr2:113391509-113391510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113390360..113393063-chr2:113482708..113485504,2	K562	blood:
2	chr2:113390812..113393784-chr2:113396279..113398032,2	MCF-7	breast:
3	chr2:113382212..113385648-chr2:113390770..113393800,3	MCF-7	breast:
4	chr2:113391397..113393329-chr2:113501977..113503565,2	K562	blood:
5	chr2:113383343..113387238-chr2:113388797..113391596,3	MCF-7	breast:
6	chr2:113389533..113392236-chr2:113492953..113495168,2	K562	blood:
7	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
8	chr2:113388214..113390218-chr2:113391409..113393753,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13030884	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17587297	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35995321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4405766	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58770636	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6716749	0.89[EUR][1000 genomes]
rs6716762	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS 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 lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs36079920	AC079922.3	cis	Esophagus Muscularis	GTEx
rs36079920	AC079922.3	cis	Heart Left Ventricle	GTEx
rs36079920	AC079922.3	cis	Artery Tibial	GTEx
rs36079920	AC079922.3	cis	Whole Blood	GTEx
rs36079920	AC079922.3	cis	Muscle Skeletal	GTEx
rs36079920	AC079922.3	cis	Esophagus Mucosa	GTEx
rs36079920	AC079922.3	cis	Artery Aorta	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:113385000-113396000	Weak transcription	Colonic Mucosa	Colon
3	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
4	chr2:113385800-113401800	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:113388800-113394800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:113388800-113398200	Weak transcription	Lung	lung
7	chr2:113389000-113391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:113389000-113395000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:113389000-113395000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:113389200-113394800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:113389200-113394800	Enhancers	Fetal Thymus	thymus
12	chr2:113389400-113395000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:113389400-113402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:113389600-113392000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:113389600-113393800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:113389600-113394000	Weak transcription	Spleen	Spleen
17	chr2:113389600-113394800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:113389600-113395000	Enhancers	Primary T cells from cord blood	blood
19	chr2:113389600-113402200	Weak transcription	Primary B cells from cord blood	blood
20	chr2:113389800-113391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:113389800-113391800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:113389800-113392600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:113389800-113392600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:113389800-113393600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:113389800-113393800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:113389800-113393800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:113389800-113394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:113389800-113395200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:113389800-113398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:113389800-113400400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:113390000-113391600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:113390000-113391800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:113390000-113394000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:113390000-113396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:113390000-113397200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:113390000-113398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:113390600-113392000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:113390600-113393400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:113390600-113394600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:113390800-113397400	Weak transcription	K562	blood
41	chr2:113391200-113392200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:113391200-113392600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:113391200-113392600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:113391200-113393000	Enhancers	Placenta	Placenta
45	chr2:113391400-113391600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:113391400-113391600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:113391400-113391800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:113391400-113392000	Enhancers	HMEC	breast
49	chr2:113391400-113392200	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr2:113391400-113394000	Enhancers	GM12878-XiMat	blood

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