Variant report

Variant	rs2994951
Chromosome Location	chr1:85038749-85038750
allele	C/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: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	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
2	chr1:85038587..85040484-chr1:85154316..85157145,3	K562	blood:
3	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:
4	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
5	chr1:85037440..85039387-chr1:85215533..85217595,2	K562	blood:
6	chr1:84943714..84946459-chr1:85038706..85040687,2	K562	blood:
7	chr1:85038555..85039249-chr1:209979030..209979922,2	HCT-116	colon:
8	chr1:84953201..84955322-chr1:85035250..85039258,3	K562	blood:
9	chr1:85035171..85039138-chr1:85044940..85048929,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117155	Chromatin interaction
ENSG00000117595	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000117133	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1246157	0.83[AMR][1000 genomes]
rs1246158	1.00[YRI][hapmap]
rs1246384	1.00[AMR][1000 genomes]
rs1246385	1.00[AMR][1000 genomes]
rs1911158	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2892837	1.00[AMR][1000 genomes]
rs2911601	1.00[AMR][1000 genomes]
rs2943661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945139	1.00[AMR][1000 genomes]
rs2945144	1.00[AMR][1000 genomes]
rs2994936	1.00[AMR][1000 genomes]
rs2994956	1.00[AMR][1000 genomes]
rs3116423	1.00[AMR][1000 genomes]
rs312399	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4907069	0.83[AMR][1000 genomes]
rs4907071	1.00[AMR][1000 genomes]
rs6576703	0.83[AMR][1000 genomes]
rs6669435	0.83[AMR][1000 genomes]
rs6681199	0.83[AMR][1000 genomes]
rs937841	1.00[AMR][1000 genomes]
rs9432822	1.00[AMR][1000 genomes]
rs9432823	1.00[AMR][1000 genomes]
rs9433226	0.83[AMR][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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:84998600-85038800	Weak transcription	Right Ventricle	heart
3	chr1:85008800-85039000	Weak transcription	Fetal Brain Male	brain
4	chr1:85014800-85039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:85017400-85039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:85022000-85038800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:85024800-85038800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:85025600-85038800	Weak transcription	HSMMtube	muscle
9	chr1:85025800-85038800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:85025800-85038800	Weak transcription	Fetal Heart	heart
11	chr1:85026200-85038800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:85028200-85038800	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:85028200-85038800	Weak transcription	HSMM	muscle
14	chr1:85028800-85039600	Weak transcription	Gastric	stomach
15	chr1:85029000-85038800	Weak transcription	A549	lung
16	chr1:85030800-85038800	Weak transcription	Fetal Stomach	stomach
17	chr1:85034000-85038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:85034600-85039400	Weak transcription	Esophagus	oesophagus
19	chr1:85035400-85038800	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:85035400-85039200	Weak transcription	Lung	lung
21	chr1:85035400-85039400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:85035400-85039400	Weak transcription	Pancreas	Pancrea
23	chr1:85036400-85038800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:85036400-85038800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:85036400-85038800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:85036600-85038800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:85036800-85039200	Weak transcription	Ovary	ovary
28	chr1:85037000-85038800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:85037000-85038800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:85037400-85038800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:85037400-85038800	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:85037400-85038800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:85037400-85041200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:85037600-85038800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:85037600-85038800	Enhancers	HepG2	liver
36	chr1:85037600-85039600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:85037800-85038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:85037800-85038800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:85037800-85041200	Active TSS	GM12878-XiMat	blood
40	chr1:85038000-85039600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:85038200-85038800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr1:85038200-85038800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:85038200-85038800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:85038200-85038800	Enhancers	Thymus	Thymus
45	chr1:85038200-85039600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:85038200-85039600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr1:85038200-85039800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr1:85038200-85040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:85038200-85041000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:85038400-85038800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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