Variant report

Variant	rs28479138
Chromosome Location	chr18:43466770-43466771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11875230	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11877436	1.00[AMR][1000 genomes]
rs28450604	1.00[AMR][1000 genomes]
rs28460769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28669237	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698347	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7242125	1.00[AMR][1000 genomes]
rs7242434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7243454	1.00[AMR][1000 genomes]
rs9951978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953484	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9957464	1.00[AMR][1000 genomes]
rs9957999	1.00[AMR][1000 genomes]
rs9958360	1.00[AMR][1000 genomes]
rs9958987	1.00[AMR][1000 genomes]
rs9960635	1.00[AMR][1000 genomes]
rs9965728	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9966061	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9967557	0.88[AFR][1000 genomes];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	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:43428400-43467800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:43429200-43473200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:43429400-43468600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr18:43432000-43470400	Strong transcription	Adipose Nuclei	Adipose
6	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine
7	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:43445600-43478000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:43445800-43483800	Weak transcription	K562	blood
10	chr18:43446200-43479400	Weak transcription	Fetal Brain Male	brain
11	chr18:43447000-43478400	Weak transcription	Stomach Mucosa	stomach
12	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:43447600-43469000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:43450800-43478000	Weak transcription	Right Ventricle	heart
15	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr18:43452000-43479000	Weak transcription	HMEC	breast
17	chr18:43452400-43470400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:43453400-43470400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:43455000-43467200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:43455000-43469000	Weak transcription	Colonic Mucosa	Colon
21	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr18:43455600-43476400	Strong transcription	Primary T cells from cord blood	blood
23	chr18:43456000-43469200	Weak transcription	A549	lung
24	chr18:43456400-43469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr18:43456400-43490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr18:43456600-43467200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:43456600-43473600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr18:43457000-43470000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:43457200-43479200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:43457400-43471000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr18:43457600-43470000	Strong transcription	HSMMtube	muscle
34	chr18:43457600-43471000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr18:43459200-43469000	Weak transcription	HUVEC	blood vessel
36	chr18:43459200-43478400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr18:43459200-43479200	Weak transcription	Psoas Muscle	Psoas
38	chr18:43460400-43471000	Strong transcription	Liver	Liver
39	chr18:43460600-43467000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:43460600-43467600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr18:43460600-43468800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:43460600-43476000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:43460800-43473800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:43460800-43500200	Strong transcription	Osteobl	bone
45	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr18:43461000-43467200	Weak transcription	NHEK	skin
47	chr18:43461000-43469000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:43461000-43478000	Weak transcription	Pancreas	Pancrea
49	chr18:43462200-43478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr18:43462200-43492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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