Variant report

Variant	rs73086365
Chromosome Location	chr1:213301621-213301622
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:213301261-213301746	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213297745..213301905-chr1:213305900..213310308,6	K562	blood:
2	chr1:213301013..213302532-chr1:213303795..213305809,2	K562	blood:
3	chr1:213299788..213302212-chr1:214389451..214391976,2	MCF-7	breast:

Variant related genes	Relation type
RPS6KC1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs35694574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57750357	1.00[AMR][1000 genomes]
rs59595887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	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]
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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213309200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
3	chr1:213269400-213308400	Weak transcription	Ovary	ovary
4	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:213271200-213309200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:213281200-213309000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:213281400-213303400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
13	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
16	chr1:213285600-213303000	Weak transcription	GM12878-XiMat	blood
17	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:213296400-213305400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:213297200-213305400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:213297400-213305400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:213297400-213308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:213297600-213305200	Weak transcription	HepG2	liver
26	chr1:213297600-213309600	Weak transcription	Fetal Intestine Large	intestine
27	chr1:213297600-213313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:213297800-213305400	Weak transcription	NH-A	brain
29	chr1:213297800-213309200	Weak transcription	Fetal Heart	heart
30	chr1:213297800-213309400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:213297800-213309600	Weak transcription	Gastric	stomach
32	chr1:213297800-213310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:213298200-213309400	Weak transcription	Psoas Muscle	Psoas
34	chr1:213300000-213305400	Weak transcription	HUVEC	blood vessel
35	chr1:213301000-213305400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:213301000-213305400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:213301000-213305400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:213301000-213308200	Weak transcription	NHDF-Ad	bronchial
39	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:213301000-213374800	Weak transcription	HSMM	muscle
41	chr1:213301200-213302800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:213301200-213305000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:213301200-213305400	Weak transcription	Osteobl	bone
44	chr1:213301200-213305600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:213301200-213309200	Weak transcription	K562	blood
46	chr1:213301200-213311800	Weak transcription	Fetal Lung	lung
47	chr1:213301400-213311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:213301600-213302400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:213301600-213303000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links