Variant report

Variant	rs6714483
Chromosome Location	chr2:10445532-10445533
allele	G/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10444401..10446241-chr2:10459560..10462142,2	MCF-7	breast:
2	chr2:10444518..10446784-chr2:10468775..10471116,3	K562	blood:
3	chr2:10422162..10423929-chr2:10444657..10446996,2	K562	blood:
4	chr2:10292318..10295172-chr2:10445381..10448141,2	K562	blood:
5	chr2:10445053..10449309-chr2:10587064..10589564,3	K562	blood:
6	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
7	chr2:10328419..10328932-chr2:10445333..10446204,3	MCF-7	breast:
8	chr2:10444868..10446437-chr2:10448436..10450157,2	MCF-7	breast:
9	chr2:10445047..10447239-chr2:10547484..10549906,2	MCF-7	breast:
10	chr2:10444615..10447130-chr2:10577332..10580177,3	K562	blood:
11	chr2:10440747..10444500-chr2:10444792..10449772,7	MCF-7	breast:
12	chr2:10444182..10445702-chr2:10452012..10454686,2	MCF-7	breast:
13	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
14	chr2:10284792..10287057-chr2:10444307..10446479,2	K562	blood:
15	chr2:10376539..10378609-chr2:10444548..10446781,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000206898	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12990770	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6723733	0.89[AMR][1000 genomes];1.00[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10441800-10445600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:10442200-10446000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:10442200-10446000	Active TSS	HSMMtube	muscle
4	chr2:10442400-10445600	Active TSS	Right Atrium	heart
5	chr2:10443200-10446000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr2:10443200-10446000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:10443200-10446200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:10443400-10445800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr2:10443400-10446000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr2:10443800-10445800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:10443800-10446000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr2:10443800-10446000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr2:10444200-10446200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:10444200-10446800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr2:10444400-10445600	Flanking Bivalent TSS/Enh	Thymus	Thymus
16	chr2:10444400-10445600	Flanking Active TSS	NHEK	skin
17	chr2:10444400-10446000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr2:10444400-10446000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr2:10444400-10446000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:10444400-10446000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:10444400-10446200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:10444400-10446200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:10444600-10445800	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr2:10444600-10445800	Flanking Active TSS	Fetal Lung	lung
25	chr2:10444600-10445800	Active TSS	Psoas Muscle	Psoas
26	chr2:10444600-10445800	Flanking Active TSS	HUVEC	blood vessel
27	chr2:10444600-10446000	Flanking Active TSS	Hela-S3	cervix
28	chr2:10444600-10446000	Flanking Active TSS	HSMM	muscle
29	chr2:10444600-10446200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr2:10444600-10446200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:10444600-10446200	Enhancers	Spleen	Spleen
32	chr2:10444600-10446400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:10444600-10446600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:10444800-10445600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:10444800-10445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:10444800-10446000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr2:10444800-10446000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr2:10444800-10446000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:10444800-10446200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:10444800-10447800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:10445000-10445800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:10445000-10445800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:10445000-10445800	Enhancers	Brain Hippocampus Middle	brain
44	chr2:10445000-10445800	Active TSS	Stomach Smooth Muscle	stomach
45	chr2:10445000-10446000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:10445000-10446000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr2:10445000-10446000	Enhancers	Brain Angular Gyrus	brain
48	chr2:10445000-10446000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:10445000-10446000	Enhancers	Esophagus	oesophagus
50	chr2:10445000-10446000	Bivalent Enhancer	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links