Variant report

Variant	rs13340333
Chromosome Location	chr5:146809042-146809043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12655492	0.80[AMR][1000 genomes]
rs12657083	0.95[AMR][1000 genomes]
rs12657176	0.83[CHB][hapmap];0.95[AMR][1000 genomes]
rs12657809	0.81[CHB][hapmap]
rs17096661	0.92[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs17106716	0.81[CHB][hapmap]
rs17106723	0.93[CHB][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17106725	0.92[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs17106726	0.92[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs2163767	0.93[CHB][hapmap];0.94[ASN][1000 genomes]
rs2241696	0.94[ASN][1000 genomes]
rs55689104	0.85[AMR][1000 genomes]
rs58013114	0.94[ASN][1000 genomes]
rs58995894	0.90[AMR][1000 genomes]
rs59892472	0.85[AMR][1000 genomes]
rs60753325	0.84[ASN][1000 genomes]
rs73264219	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73264220	0.95[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	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:146797200-146810800	Weak transcription	Brain Anterior Caudate	brain
4	chr5:146797400-146810800	Weak transcription	Spleen	Spleen
5	chr5:146797800-146811200	Weak transcription	Left Ventricle	heart
6	chr5:146798000-146810800	Weak transcription	Fetal Heart	heart
7	chr5:146798200-146810600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:146798200-146811200	Weak transcription	Fetal Lung	lung
9	chr5:146798200-146815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:146798400-146811200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:146798800-146811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:146799000-146818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:146803200-146810200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:146803600-146811400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:146803800-146810400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:146804200-146810600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:146804400-146810800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:146804400-146815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:146804600-146810800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:146804800-146809400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:146804800-146809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:146805000-146810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:146805200-146810200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:146805800-146819200	Enhancers	Colon Smooth Muscle	Colon
26	chr5:146806000-146812400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:146806000-146814800	Enhancers	Fetal Brain Male	brain
28	chr5:146806800-146810800	Weak transcription	Fetal Intestine Large	intestine
29	chr5:146806800-146811400	Enhancers	Rectal Smooth Muscle	rectum
30	chr5:146807200-146809400	Enhancers	Right Atrium	heart
31	chr5:146807600-146811000	Weak transcription	Fetal Stomach	stomach
32	chr5:146807600-146812800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:146808000-146810800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:146808000-146811200	Weak transcription	Aorta	Aorta
35	chr5:146808000-146811200	Weak transcription	NH-A	brain
36	chr5:146808000-146816200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:146808200-146809200	Weak transcription	NHLF	lung
38	chr5:146808200-146810400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:146808200-146810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:146808200-146810800	Weak transcription	Ovary	ovary
41	chr5:146808200-146811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:146808200-146816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:146808200-146816600	Weak transcription	Osteobl	bone
44	chr5:146808200-146818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:146808400-146809400	Enhancers	Stomach Smooth Muscle	stomach
46	chr5:146808800-146809400	Genic enhancers	H1 Cell Line	embryonic stem cell
47	chr5:146808800-146809400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:146808800-146809600	Genic enhancers	Brain Germinal Matrix	brain
49	chr5:146808800-146809800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:146808800-146810800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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