Variant report

Variant	rs7558465
Chromosome Location	chr2:30383742-30383743
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
2	chr2:30382169..30383978-chr2:30384260..30386261,2	K562	blood:
3	chr2:30377733..30380914-chr2:30380997..30384008,4	MCF-7	breast:
4	chr2:30376495..30380497-chr2:30381287..30386120,8	K562	blood:

Variant related genes	Relation type
ENSG00000233862	Chromatin interaction
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12052275	0.83[ASN][1000 genomes]
rs1509579	0.86[ASN][1000 genomes]
rs17009154	0.81[ASN][1000 genomes]
rs17009178	0.85[ASN][1000 genomes]
rs2361751	0.83[ASN][1000 genomes]
rs3768669	0.84[ASN][1000 genomes]
rs3768670	0.85[ASN][1000 genomes]
rs3768671	0.88[ASN][1000 genomes]
rs4951982	0.83[ASN][1000 genomes]
rs4952094	0.83[ASN][1000 genomes]
rs56696610	0.81[ASN][1000 genomes]
rs6710956	0.81[ASN][1000 genomes]
rs6718385	0.83[ASN][1000 genomes]
rs6719849	0.81[ASN][1000 genomes]
rs6739748	0.85[ASN][1000 genomes]
rs6752385	0.81[ASN][1000 genomes]
rs7585724	0.86[ASN][1000 genomes]
rs7603389	0.83[ASN][1000 genomes]
rs7608690	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30371400-30384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:30371800-30385000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:30373800-30385200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:30374000-30385200	Strong transcription	Placenta	Placenta
6	chr2:30374000-30386000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:30374000-30387400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:30374000-30387400	Weak transcription	Psoas Muscle	Psoas
9	chr2:30374000-30387400	Weak transcription	Hela-S3	cervix
10	chr2:30374400-30386200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:30374600-30386200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:30374800-30384400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:30374800-30387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:30375000-30383800	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:30375200-30384400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:30376200-30384200	Strong transcription	HSMM	muscle
17	chr2:30376400-30384000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:30376400-30384800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:30376800-30384800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:30377800-30384600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:30378000-30384000	Weak transcription	Small Intestine	intestine
22	chr2:30378400-30386000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:30378400-30386000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:30378600-30384200	Strong transcription	Adipose Nuclei	Adipose
25	chr2:30378600-30384800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:30378600-30386200	Strong transcription	Primary T cells from cord blood	blood
27	chr2:30378800-30384600	Strong transcription	NHDF-Ad	bronchial
28	chr2:30378800-30385000	Strong transcription	Fetal Thymus	thymus
29	chr2:30378800-30385800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:30378800-30386000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:30379200-30384400	Strong transcription	Osteobl	bone
32	chr2:30379400-30383800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:30379400-30384200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:30379600-30383800	Strong transcription	Fetal Intestine Large	intestine
35	chr2:30379800-30384800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:30380400-30383800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:30380600-30384600	Strong transcription	Brain Substantia Nigra	brain
38	chr2:30380800-30385000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:30381000-30384600	Strong transcription	Brain Angular Gyrus	brain
40	chr2:30381000-30385200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:30382000-30387600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:30382000-30389200	Weak transcription	Colonic Mucosa	Colon
43	chr2:30382200-30383800	Weak transcription	Fetal Brain Male	brain
44	chr2:30382200-30386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:30382400-30385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:30382400-30385000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:30382400-30386800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:30382400-30387400	Weak transcription	NHLF	lung
49	chr2:30382400-30387600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:30382400-30387600	Weak transcription	Right Ventricle	heart

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