Variant report

Variant	rs6582580
Chromosome Location	chr12:46381728-46381729
allele	A/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46381030..46386260-chr12:46762457..46768592,6	K562	blood:
2	chr12:46381426..46387093-chr12:46763754..46767064,8	MCF-7	breast:
3	chr12:46344593..46346817-chr12:46380170..46382084,2	MCF-7	breast:
4	chr12:46234148..46236211-chr12:46380444..46382756,2	MCF-7	breast:
5	chr12:46117578..46127110-chr12:46379884..46387671,22	K562	blood:
6	chr12:46119117..46128831-chr12:46378175..46388065,20	MCF-7	breast:
7	chr12:46381552..46382503-chr12:46595173..46595922,2	MCF-7	breast:
8	chr12:46381653..46384316-chr12:46658041..46660330,2	K562	blood:
9	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
10	chr12:46014914..46017037-chr12:46380285..46382180,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000273015	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10161536	1.00[EUR][1000 genomes]
rs10506264	1.00[EUR][1000 genomes]
rs11183248	1.00[EUR][1000 genomes]
rs11574971	1.00[EUR][1000 genomes]
rs12298184	1.00[EUR][1000 genomes]
rs12307979	1.00[EUR][1000 genomes]
rs1549591	1.00[EUR][1000 genomes]
rs15852	1.00[EUR][1000 genomes]
rs17096316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61009645	1.00[EUR][1000 genomes]
rs7304785	1.00[EUR][1000 genomes]
rs7306774	1.00[EUR][1000 genomes]
rs7310702	0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081279	1.00[EUR][1000 genomes]
rs74081280	1.00[EUR][1000 genomes]
rs74081611	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965539	1.00[EUR][1000 genomes]
rs7970212	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970367	1.00[EUR][1000 genomes]
rs7971936	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972499	1.00[EUR][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	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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	43 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	chr12:46360600-46381800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:46360600-46383000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:46361400-46383200	Weak transcription	Lung	lung
4	chr12:46362800-46383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46363600-46381800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:46367400-46383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:46370800-46382800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:46372400-46383000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:46373000-46383400	Weak transcription	Esophagus	oesophagus
10	chr12:46373200-46382800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:46374200-46383000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:46378400-46382800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:46378400-46383000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:46378600-46382400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:46378600-46382600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:46379000-46381800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:46379000-46382400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:46379400-46383000	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:46379600-46383000	Enhancers	Colon Smooth Muscle	Colon
20	chr12:46379800-46381800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:46379800-46381800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:46380000-46382200	Enhancers	Liver	Liver
23	chr12:46380000-46382200	Enhancers	Brain Angular Gyrus	brain
24	chr12:46380000-46382600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:46380000-46383400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:46380200-46381800	Enhancers	NHLF	lung
27	chr12:46380200-46382200	Enhancers	Thymus	Thymus
28	chr12:46380400-46383000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:46380600-46381800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:46380600-46382200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:46380600-46382800	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:46380600-46383000	Enhancers	Brain Anterior Caudate	brain
33	chr12:46380600-46383000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:46380600-46383200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr12:46380600-46383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:46380800-46382400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:46380800-46386400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:46381000-46381800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:46381000-46381800	Genic enhancers	NHDF-Ad	bronchial
40	chr12:46381000-46381800	Enhancers	Osteobl	bone
41	chr12:46381000-46382000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:46381000-46382000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:46381000-46382000	Weak transcription	Aorta	Aorta
44	chr12:46381000-46382200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:46381000-46382200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:46381000-46382200	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr12:46381000-46382600	Enhancers	Stomach Mucosa	stomach
48	chr12:46381000-46382800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:46381000-46382800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:46381000-46382800	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links