Variant report

Variant	rs73427111
Chromosome Location	chr18:43843468-43843469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs57897402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60019691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60693028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61561021	1.00[AMR][1000 genomes]
rs61586679	1.00[AMR][1000 genomes]
rs73425144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425148	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425160	0.92[AFR][1000 genomes]
rs73425183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427118	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427140	0.85[AFR][1000 genomes]
rs73427164	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	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 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	chr18:43825400-43844200	Weak transcription	Fetal Brain Female	brain
2	chr18:43826600-43847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:43826800-43843600	Weak transcription	Brain Germinal Matrix	brain
4	chr18:43830000-43854200	Weak transcription	Esophagus	oesophagus
5	chr18:43830600-43847400	Weak transcription	Pancreas	Pancrea
6	chr18:43831000-43844600	Weak transcription	Spleen	Spleen
7	chr18:43831000-43851400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:43831400-43848000	Weak transcription	Fetal Kidney	kidney
9	chr18:43831400-43863200	Weak transcription	Fetal Intestine Small	intestine
10	chr18:43833800-43856800	Weak transcription	Aorta	Aorta
11	chr18:43834600-43844000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:43834800-43849000	Weak transcription	HUVEC	blood vessel
13	chr18:43836200-43843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:43839400-43844600	Enhancers	Psoas Muscle	Psoas
15	chr18:43839600-43845000	Enhancers	HMEC	breast
16	chr18:43839600-43845600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:43840000-43845000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr18:43840000-43846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr18:43840000-43846000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr18:43840000-43853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:43840200-43844000	Strong transcription	Primary T cells from cord blood	blood
22	chr18:43840600-43843800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:43840600-43843800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:43840600-43846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr18:43840600-43850600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr18:43840800-43846000	Weak transcription	A549	lung
27	chr18:43841000-43845600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr18:43841000-43846000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:43841000-43861400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr18:43841000-43864200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr18:43841200-43845600	Genic enhancers	HSMM	muscle
32	chr18:43841200-43847400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:43841200-43847400	Strong transcription	Primary B cells from cord blood	blood
34	chr18:43841200-43849600	Strong transcription	Dnd41	blood
35	chr18:43841400-43845000	Weak transcription	Brain Anterior Caudate	brain
36	chr18:43841400-43845800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:43841400-43858000	Weak transcription	HSMMtube	muscle
38	chr18:43841400-43858400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr18:43841600-43843800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr18:43841800-43843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:43841800-43844000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr18:43841800-43844000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:43842000-43844600	Enhancers	Right Atrium	heart
44	chr18:43842000-43845400	Strong transcription	Fetal Thymus	thymus
45	chr18:43842000-43845600	Strong transcription	Fetal Intestine Large	intestine
46	chr18:43842000-43846000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr18:43842000-43848800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr18:43842200-43843800	Weak transcription	Fetal Heart	heart
49	chr18:43842200-43844200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr18:43842200-43845000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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