Variant report

Variant	rs59595887
Chromosome Location	chr1:213296827-213296828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213254515..213256394-chr1:213295940..213298731,2	K562	blood:
2	chr1:212783045..212785290-chr1:213295764..213298045,2	K562	blood:
3	chr1:213295280..213298401-chr1:213299446..213303387,4	K562	blood:
4	chr1:213284465..213286690-chr1:213295157..213296953,2	K562	blood:

Variant related genes	Relation type
ENSG00000136643	Chromatin interaction

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

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

rs_ID	r²[population]
rs35694574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57750357	1.00[AMR][1000 genomes]
rs61307999	1.00[AMR][1000 genomes]
rs73079997	1.00[AMR][1000 genomes]
rs73080000	1.00[AMR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73084295	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086335	1.00[AMR][1000 genomes]
rs73086365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093616	1.00[AMR][1000 genomes]
rs73093622	1.00[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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213252600-213297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:213254800-213297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:213261600-213309200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
5	chr1:213269400-213308400	Weak transcription	Ovary	ovary
6	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:213271000-213297000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:213271200-213309200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:213280800-213297400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:213281200-213301000	Weak transcription	Fetal Lung	lung
12	chr1:213281200-213309000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
15	chr1:213281400-213303400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
18	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
21	chr1:213285600-213303000	Weak transcription	GM12878-XiMat	blood
22	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:213292600-213297000	Weak transcription	Psoas Muscle	Psoas
24	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:213294200-213300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:213295800-213297800	Enhancers	HUVEC	blood vessel
28	chr1:213296000-213297000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:213296000-213297000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:213296000-213297200	Enhancers	K562	blood
31	chr1:213296000-213297600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:213296000-213297600	Enhancers	HepG2	liver
33	chr1:213296000-213297800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:213296000-213297800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:213296000-213297800	Enhancers	A549	lung
36	chr1:213296000-213297800	Enhancers	Hela-S3	cervix
37	chr1:213296000-213297800	Enhancers	NH-A	brain
38	chr1:213296000-213297800	Enhancers	Osteobl	bone
39	chr1:213296000-213298400	Enhancers	Stomach Mucosa	stomach
40	chr1:213296200-213297600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:213296200-213297600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:213296200-213297600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:213296200-213297600	Enhancers	NHDF-Ad	bronchial
44	chr1:213296200-213297600	Enhancers	NHLF	lung
45	chr1:213296200-213297800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:213296200-213297800	Enhancers	Fetal Intestine Small	intestine
47	chr1:213296200-213297800	Enhancers	HMEC	breast
48	chr1:213296200-213297800	Enhancers	NHEK	skin
49	chr1:213296400-213297600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:213296400-213297600	Enhancers	Fetal Intestine Large	intestine

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