Variant report

Variant	rs1509576
Chromosome Location	chr2:30371794-30371795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30362220..30364424-chr2:30369262..30372123,2	K562	blood:
2	chr2:30370673..30372393-chr2:30454162..30455838,3	K562	blood:
3	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
4	chr2:30371465..30373484-chr2:30397910..30400292,3	K562	blood:
5	chr2:30370893..30374119-chr2:30453845..30456707,3	K562	blood:
6	chr2:30369470..30372362-chr2:30669050..30670728,2	MCF-7	breast:
7	chr2:30369876..30376242-chr2:30376921..30381158,8	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction
ENSG00000213626	Chromatin interaction
ENSG00000233862	Chromatin interaction
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12052275	0.88[ASN][1000 genomes]
rs1345151	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374724	0.92[ASN][1000 genomes]
rs1509579	0.92[ASN][1000 genomes]
rs17009154	0.94[ASN][1000 genomes]
rs17009178	0.92[ASN][1000 genomes]
rs2361751	0.88[ASN][1000 genomes]
rs3768669	0.93[ASN][1000 genomes]
rs3768670	0.92[ASN][1000 genomes]
rs3768671	0.90[ASN][1000 genomes]
rs3886897	0.81[ASN][1000 genomes]
rs4332963	0.81[ASN][1000 genomes]
rs4603808	0.81[ASN][1000 genomes]
rs4951982	0.88[ASN][1000 genomes]
rs4952094	0.88[ASN][1000 genomes]
rs56696610	0.94[ASN][1000 genomes]
rs57641749	0.84[ASN][1000 genomes]
rs6547994	0.91[ASN][1000 genomes]
rs6547997	0.83[ASN][1000 genomes]
rs6710956	0.85[ASN][1000 genomes]
rs6718385	0.95[ASN][1000 genomes]
rs6719849	0.94[ASN][1000 genomes]
rs6739748	0.90[ASN][1000 genomes]
rs6752385	0.94[ASN][1000 genomes]
rs7585317	0.92[ASN][1000 genomes]
rs7585724	0.92[ASN][1000 genomes]
rs7596566	0.81[ASN][1000 genomes]
rs7603389	0.89[ASN][1000 genomes]
rs7608690	0.88[ASN][1000 genomes]
rs935486	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3373211	chr2:30368973-30372021	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30369000-30372800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:30369200-30371800	Active TSS	Gastric	stomach
3	chr2:30369400-30371800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:30370800-30371800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:30370800-30371800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:30370800-30371800	Flanking Active TSS	Fetal Brain Female	brain
7	chr2:30370800-30372000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr2:30370800-30372000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:30371000-30371800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:30371000-30371800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr2:30371000-30371800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:30371000-30371800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:30371000-30371800	Flanking Active TSS	Fetal Heart	heart
14	chr2:30371000-30371800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:30371000-30371800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr2:30371000-30371800	Weak transcription	Spleen	Spleen
17	chr2:30371000-30372000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:30371000-30372000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:30371000-30372000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:30371000-30373400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:30371000-30380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:30371000-30380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:30371200-30371800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
24	chr2:30371200-30372000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:30371200-30372000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr2:30371200-30372000	Transcr. at gene 5' and 3'	Thymus	Thymus
27	chr2:30371200-30372200	Weak transcription	Ovary	ovary
28	chr2:30371200-30372200	Transcr. at gene 5' and 3'	NHEK	skin
29	chr2:30371200-30372400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:30371200-30373000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr2:30371200-30374000	Enhancers	Small Intestine	intestine
32	chr2:30371400-30371800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:30371400-30371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:30371400-30371800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:30371400-30371800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:30371400-30371800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:30371400-30371800	Enhancers	Aorta	Aorta
38	chr2:30371400-30371800	Enhancers	Brain Anterior Caudate	brain
39	chr2:30371400-30371800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:30371400-30371800	Enhancers	Fetal Intestine Large	intestine
41	chr2:30371400-30371800	Enhancers	Fetal Lung	lung
42	chr2:30371400-30371800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:30371400-30371800	Weak transcription	Right Atrium	heart
44	chr2:30371400-30371800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:30371400-30371800	Enhancers	K562	blood
46	chr2:30371400-30372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:30371400-30372000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:30371400-30372200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:30371400-30372200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:30371400-30372200	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links