Variant report

Variant	rs62088123
Chromosome Location	chr18:45455361-45455362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45445551..45451271-chr18:45453158..45456977,7	K562	blood:
2	chr18:45412211..45417305-chr18:45454331..45458060,5	MCF-7	breast:
3	chr18:45419311..45422107-chr18:45455091..45458226,3	K562	blood:
4	chr18:45455170..45457899-chr18:45935970..45938603,2	K562	blood:
5	chr18:45439039..45441634-chr18:45452955..45455422,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction
ENSG00000184828	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12454516	1.00[AFR][1000 genomes]
rs12456907	1.00[AFR][1000 genomes]
rs17814648	1.00[AFR][1000 genomes]
rs1945723	1.00[AFR][1000 genomes]
rs62086510	1.00[AFR][1000 genomes]
rs62086545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62088122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
2	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
4	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
5	chr18:45439600-45455400	Weak transcription	Fetal Muscle Leg	muscle
6	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
7	chr18:45443000-45456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:45444800-45456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:45444800-45456000	Weak transcription	Lung	lung
10	chr18:45446000-45455400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:45446200-45455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:45447600-45456000	Weak transcription	Left Ventricle	heart
13	chr18:45450000-45456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:45451000-45455600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr18:45451000-45455600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr18:45451600-45456000	Enhancers	Fetal Heart	heart
17	chr18:45452000-45456000	Enhancers	Brain Hippocampus Middle	brain
18	chr18:45452200-45456000	Enhancers	Brain Substantia Nigra	brain
19	chr18:45452400-45455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:45452400-45455800	Enhancers	Brain Anterior Caudate	brain
21	chr18:45452400-45455800	Enhancers	Fetal Intestine Small	intestine
22	chr18:45452400-45456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:45452600-45456000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr18:45452800-45456000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr18:45453000-45455800	Enhancers	Brain Angular Gyrus	brain
26	chr18:45453400-45455800	Weak transcription	Aorta	Aorta
27	chr18:45453400-45455800	Enhancers	Liver	Liver
28	chr18:45453600-45456000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr18:45453600-45458200	Active TSS	GM12878-XiMat	blood
30	chr18:45453800-45455800	Weak transcription	Psoas Muscle	Psoas
31	chr18:45453800-45456200	Weak transcription	Gastric	stomach
32	chr18:45454000-45456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:45454000-45456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:45454400-45455600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:45454400-45455800	Enhancers	Primary B cells from cord blood	blood
36	chr18:45454400-45455800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr18:45454400-45456000	Enhancers	Brain Cingulate Gyrus	brain
38	chr18:45454400-45456200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr18:45454400-45456400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr18:45454400-45456400	Flanking Active TSS	Dnd41	blood
41	chr18:45454600-45455400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr18:45454600-45455400	Flanking Active TSS	NHEK	skin
43	chr18:45454600-45455800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:45454600-45455800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr18:45454600-45455800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:45454600-45456000	Enhancers	Primary B cells from peripheral blood	blood
47	chr18:45454600-45456200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:45454600-45456200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:45454600-45456400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr18:45454600-45456400	Flanking Active TSS	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links