Variant report

Variant	rs8089228
Chromosome Location	chr18:29482624-29482625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29474340..29476672-chr18:29479905..29482693,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1030405	1.00[AFR][1000 genomes]
rs16962529	1.00[AFR][1000 genomes]
rs1876783	1.00[AFR][1000 genomes]
rs4570943	1.00[AFR][1000 genomes]
rs476509	0.93[AFR][1000 genomes]
rs492777	1.00[AFR][1000 genomes]
rs520531	1.00[AFR][1000 genomes]
rs522046	1.00[AFR][1000 genomes]
rs551921	1.00[AFR][1000 genomes]
rs561556	0.93[AFR][1000 genomes]
rs574924	0.86[AFR][1000 genomes]
rs589558	1.00[AFR][1000 genomes]
rs595195	0.93[AFR][1000 genomes]
rs610869	1.00[AFR][1000 genomes]
rs6506949	1.00[AFR][1000 genomes]
rs651501	1.00[AFR][1000 genomes]
rs665765	1.00[AFR][1000 genomes]
rs670689	1.00[AFR][1000 genomes]
rs673202	1.00[AFR][1000 genomes]
rs7229729	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
2	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
7	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
8	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
9	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
10	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:29457400-29484800	Weak transcription	NHEK	skin
12	chr18:29458600-29485200	Weak transcription	Brain Substantia Nigra	brain
13	chr18:29460400-29501200	Strong transcription	Liver	Liver
14	chr18:29461400-29494200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:29461600-29491200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
17	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
18	chr18:29462600-29485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:29462600-29489000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:29462800-29485200	Weak transcription	Brain Germinal Matrix	brain
21	chr18:29462800-29486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:29463200-29490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:29463400-29509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr18:29465000-29489200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:29466200-29486000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr18:29466200-29489000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr18:29466400-29490800	Strong transcription	Placenta	Placenta
28	chr18:29466600-29485800	Strong transcription	Dnd41	blood
29	chr18:29466800-29489000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:29466800-29489000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr18:29467400-29486600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:29468200-29491000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr18:29468800-29492000	Weak transcription	Ovary	ovary
34	chr18:29469000-29489200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:29469000-29511400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr18:29469600-29483000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr18:29469600-29507000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr18:29470400-29485200	Weak transcription	Fetal Kidney	kidney
39	chr18:29470600-29483800	Weak transcription	Small Intestine	intestine
40	chr18:29472800-29484000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr18:29472800-29512000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:29473000-29489000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:29473200-29490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr18:29473400-29487800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:29473800-29489600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:29473800-29490000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:29473800-29494800	Strong transcription	Primary B cells from cord blood	blood
48	chr18:29473800-29503400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr18:29474200-29510800	Weak transcription	NH-A	brain
50	chr18:29476000-29491200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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