Variant report

Variant	rs800330
Chromosome Location	chr10:44805952-44805953
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:44804868..44806553-chr10:44814577..44816220,2	MCF-7	breast:
2	chr10:44795472..44799365-chr10:44803832..44806502,4	MCF-7	breast:
3	chr10:44796365..44797945-chr10:44804933..44807344,2	MCF-7	breast:
4	chr10:44804505..44808299-chr10:44810084..44813443,4	MCF-7	breast:
5	chr10:44805001..44807062-chr10:44879754..44882098,2	MCF-7	breast:
6	chr10:44799839..44801951-chr10:44804606..44806678,2	MCF-7	breast:
7	chr10:44729477..44732943-chr10:44804375..44806757,3	MCF-7	breast:
8	chr10:44802341..44804766-chr10:44804876..44806758,5	MCF-7	breast:
9	chr10:44803835..44808039-chr10:44810425..44813828,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107562	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1159931	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11814779	0.87[ASN][1000 genomes]
rs1746052	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2209065	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs487465	0.95[JPT][hapmap]
rs573141	0.95[JPT][hapmap]
rs607363	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs620356	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs620828	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs634963	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs694425	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7082209	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs800329	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44797400-44806000	Weak transcription	Fetal Heart	heart
2	chr10:44797400-44806200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:44797400-44806200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:44797800-44806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:44797800-44806200	Weak transcription	Pancreas	Pancrea
6	chr10:44798000-44806000	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:44799800-44806000	Weak transcription	Right Ventricle	heart
8	chr10:44802200-44806200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:44802200-44806400	Weak transcription	HSMM	muscle
10	chr10:44802400-44806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:44802400-44806200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:44802400-44806200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:44802400-44806200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:44802400-44806200	Weak transcription	Psoas Muscle	Psoas
15	chr10:44802400-44806200	Weak transcription	Right Atrium	heart
16	chr10:44802400-44806200	Weak transcription	NHDF-Ad	bronchial
17	chr10:44802400-44806200	Weak transcription	Osteobl	bone
18	chr10:44802400-44806400	Weak transcription	NHLF	lung
19	chr10:44802400-44806600	Weak transcription	NH-A	brain
20	chr10:44802600-44806000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:44802600-44806400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:44802600-44806400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:44803600-44806200	Enhancers	Fetal Stomach	stomach
24	chr10:44804200-44806200	Enhancers	Fetal Brain Female	brain
25	chr10:44804200-44806200	Enhancers	Rectal Smooth Muscle	rectum
26	chr10:44804400-44806200	Enhancers	Stomach Smooth Muscle	stomach
27	chr10:44804600-44806200	Enhancers	Colon Smooth Muscle	Colon
28	chr10:44804600-44807000	Enhancers	Fetal Brain Male	brain
29	chr10:44805200-44806200	Weak transcription	Colonic Mucosa	Colon
30	chr10:44805200-44806200	Weak transcription	Lung	lung
31	chr10:44805400-44806000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:44805400-44806000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr10:44805600-44806000	Enhancers	GM12878-XiMat	blood
34	chr10:44805600-44806200	Enhancers	Fetal Thymus	thymus
35	chr10:44805600-44807200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr10:44805800-44806200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr10:44805800-44806200	Enhancers	Brain Germinal Matrix	brain
38	chr10:44805800-44806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:44805800-44806400	Enhancers	Fetal Lung	lung
40	chr10:44805800-44806600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:44805800-44807000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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