Variant report

Variant	rs58995894
Chromosome Location	chr5:146811029-146811030
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	chr5:146802902..146805345-chr5:146810324..146812732,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12655492	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12657083	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12657176	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1432853	0.80[AMR][1000 genomes]
rs17106716	0.84[AMR][1000 genomes]
rs17106723	0.94[AMR][1000 genomes]
rs3805543	0.80[AMR][1000 genomes]
rs3805545	0.80[AMR][1000 genomes]
rs55689104	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56095645	0.86[AFR][1000 genomes]
rs56171142	0.98[AFR][1000 genomes]
rs56269143	0.86[AFR][1000 genomes]
rs59892472	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60658825	0.93[AFR][1000 genomes]
rs73264219	0.90[AMR][1000 genomes]
rs73264220	0.86[AMR][1000 genomes]
rs73794722	0.98[AFR][1000 genomes]
rs73794723	0.98[AFR][1000 genomes]
rs73794731	0.93[AFR][1000 genomes]
rs73794733	0.93[AFR][1000 genomes]
rs73794735	0.93[AFR][1000 genomes]
rs73794737	0.93[AFR][1000 genomes]
rs73794738	0.93[AFR][1000 genomes]
rs73794739	0.93[AFR][1000 genomes]
rs73794744	0.86[AFR][1000 genomes]
rs73794759	0.86[AFR][1000 genomes]
rs73794760	0.86[AFR][1000 genomes]
rs73794761	0.86[AFR][1000 genomes]
rs73794762	0.86[AFR][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	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146797800-146811200	Weak transcription	Left Ventricle	heart
2	chr5:146798200-146811200	Weak transcription	Fetal Lung	lung
3	chr5:146798200-146815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:146798400-146811200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:146798800-146811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:146799000-146818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:146803600-146811400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:146804400-146815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:146805800-146819200	Enhancers	Colon Smooth Muscle	Colon
11	chr5:146806000-146812400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:146806000-146814800	Enhancers	Fetal Brain Male	brain
13	chr5:146806800-146811400	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:146807600-146812800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:146808000-146811200	Weak transcription	Aorta	Aorta
16	chr5:146808000-146811200	Weak transcription	NH-A	brain
17	chr5:146808000-146816200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:146808200-146811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:146808200-146816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:146808200-146816600	Weak transcription	Osteobl	bone
21	chr5:146808200-146818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:146809000-146811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:146809000-146811200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:146809000-146811200	Weak transcription	Lung	lung
25	chr5:146809000-146811200	Weak transcription	Psoas Muscle	Psoas
26	chr5:146809000-146811400	Weak transcription	Pancreas	Pancrea
27	chr5:146809000-146816600	Weak transcription	Esophagus	oesophagus
28	chr5:146809400-146811200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:146809400-146811400	Weak transcription	Right Atrium	heart
30	chr5:146809400-146819200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:146809800-146814000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:146810000-146823400	Weak transcription	Small Intestine	intestine
33	chr5:146810200-146811600	Enhancers	HSMMtube	muscle
34	chr5:146810200-146812000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:146810200-146812800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:146810400-146811200	Enhancers	Stomach Smooth Muscle	stomach
37	chr5:146810400-146812200	Enhancers	Fetal Muscle Leg	muscle
38	chr5:146810400-146812400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:146810400-146813200	Enhancers	Fetal Brain Female	brain
40	chr5:146810400-146815600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr5:146810600-146812200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:146810800-146811200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:146810800-146811600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:146810800-146811600	Enhancers	Brain Anterior Caudate	brain
45	chr5:146810800-146811800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:146810800-146811800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:146810800-146811800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:146810800-146811800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:146810800-146812000	Enhancers	Brain Substantia Nigra	brain
50	chr5:146810800-146812200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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