Variant report

Variant	rs17020179
Chromosome Location	chr1:213296465-213296466
allele	C/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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11120087	0.90[AFR][1000 genomes]
rs11120091	0.90[AFR][1000 genomes]
rs11120105	0.80[AFR][1000 genomes]
rs12060400	0.80[AFR][1000 genomes]
rs12064577	0.80[AFR][1000 genomes]
rs12064585	0.90[AFR][1000 genomes]
rs12064974	0.80[AFR][1000 genomes]
rs12067919	0.80[AFR][1000 genomes]
rs12071832	0.80[AFR][1000 genomes]
rs12074538	0.80[AFR][1000 genomes]
rs12075302	0.80[AFR][1000 genomes]
rs12079331	0.90[AFR][1000 genomes]
rs12086415	0.80[AFR][1000 genomes]
rs12086986	0.80[AFR][1000 genomes]
rs12087445	0.90[AFR][1000 genomes]
rs12091457	0.90[AFR][1000 genomes]
rs17020280	0.80[AFR][1000 genomes]
rs17020291	0.80[AFR][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:63 , 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	chr1:213292000-213296600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:213292600-213297000	Weak transcription	Psoas Muscle	Psoas
25	chr1:213293400-213296800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:213293800-213296600	Weak transcription	HSMMtube	muscle
27	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:213294200-213296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:213294200-213300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:213295800-213297800	Enhancers	HUVEC	blood vessel
32	chr1:213296000-213296600	Enhancers	Brain Anterior Caudate	brain
33	chr1:213296000-213296800	Enhancers	Liver	Liver
34	chr1:213296000-213296800	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:213296000-213296800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:213296000-213297000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:213296000-213297000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr1:213296000-213297200	Enhancers	K562	blood
39	chr1:213296000-213297600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:213296000-213297600	Enhancers	HepG2	liver
41	chr1:213296000-213297800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:213296000-213297800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:213296000-213297800	Enhancers	A549	lung
44	chr1:213296000-213297800	Enhancers	Hela-S3	cervix
45	chr1:213296000-213297800	Enhancers	NH-A	brain
46	chr1:213296000-213297800	Enhancers	Osteobl	bone
47	chr1:213296000-213298400	Enhancers	Stomach Mucosa	stomach
48	chr1:213296200-213296800	Enhancers	Brain Hippocampus Middle	brain
49	chr1:213296200-213297600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:213296200-213297600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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