Variant report

Variant	rs73956253
Chromosome Location	chr18:43785254-43785255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43779867..43781418-chr18:43783890..43786002,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56037201	1.00[AMR][1000 genomes]
rs56197126	1.00[AMR][1000 genomes]
rs56778039	1.00[AMR][1000 genomes]
rs58939953	1.00[AMR][1000 genomes]
rs60643131	1.00[AMR][1000 genomes]
rs61196671	1.00[AMR][1000 genomes]
rs73953967	1.00[AMR][1000 genomes]
rs73953971	1.00[AMR][1000 genomes]
rs73953977	1.00[AMR][1000 genomes]
rs73953979	1.00[AMR][1000 genomes]
rs73956229	1.00[AMR][1000 genomes]
rs73956236	1.00[AMR][1000 genomes]
rs73956266	1.00[AMR][1000 genomes]
rs73956285	1.00[AMR][1000 genomes]
rs73956288	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43755600-43795600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:43756800-43796000	Weak transcription	Esophagus	oesophagus
3	chr18:43761200-43796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:43763000-43795800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:43763400-43799200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:43763600-43796000	Weak transcription	Fetal Lung	lung
7	chr18:43764600-43795800	Weak transcription	Lung	lung
8	chr18:43769200-43802800	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:43770800-43796000	Weak transcription	Brain Substantia Nigra	brain
10	chr18:43771800-43795800	Weak transcription	Brain Anterior Caudate	brain
11	chr18:43772000-43795800	Weak transcription	Adipose Nuclei	Adipose
12	chr18:43772000-43795800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr18:43772200-43796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:43772800-43795800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:43774400-43795800	Weak transcription	Fetal Stomach	stomach
16	chr18:43776400-43802000	Weak transcription	Brain Germinal Matrix	brain
17	chr18:43776800-43795800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:43777000-43812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:43777200-43791600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:43777200-43795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:43777800-43795800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:43777800-43805000	Weak transcription	Fetal Intestine Small	intestine
23	chr18:43778200-43789200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr18:43778600-43788400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:43780000-43791400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:43780000-43791400	Weak transcription	Osteobl	bone
27	chr18:43780000-43793200	Weak transcription	Liver	Liver
28	chr18:43780000-43795800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr18:43780200-43793200	Weak transcription	Fetal Heart	heart
30	chr18:43780400-43791400	Weak transcription	K562	blood
31	chr18:43780600-43786200	Weak transcription	Right Atrium	heart
32	chr18:43780600-43790600	Weak transcription	Left Ventricle	heart
33	chr18:43780800-43790600	Weak transcription	Psoas Muscle	Psoas
34	chr18:43781200-43785600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:43781200-43791400	Weak transcription	Hela-S3	cervix
36	chr18:43781400-43795200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr18:43782000-43789400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr18:43783000-43785400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr18:43783000-43785400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:43783000-43788200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr18:43783000-43789000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr18:43783000-43790600	Weak transcription	Right Ventricle	heart
43	chr18:43783200-43785400	Enhancers	Primary T cells from cord blood	blood
44	chr18:43783200-43786000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:43783200-43787000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:43783400-43793200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:43783600-43786200	Enhancers	Primary B cells from peripheral blood	blood
48	chr18:43783600-43796000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr18:43783800-43785400	Weak transcription	Spleen	Spleen
50	chr18:43783800-43785600	Flanking Active TSS	Dnd41	blood

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