Variant report

Variant	rs57398983
Chromosome Location	chr3:133660282-133660283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11921523	1.00[AMR][1000 genomes]
rs55977862	1.00[EUR][1000 genomes]
rs56106050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56851733	1.00[EUR][1000 genomes]
rs73861266	1.00[EUR][1000 genomes]
rs73861267	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73861268	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73861270	1.00[EUR][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	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133647000-133661800	Weak transcription	Gastric	stomach
2	chr3:133647400-133661000	Weak transcription	Fetal Thymus	thymus
3	chr3:133647800-133661000	Weak transcription	Lung	lung
4	chr3:133650200-133662600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:133651800-133663400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:133654000-133662600	Weak transcription	Fetal Intestine Large	intestine
7	chr3:133654400-133661800	Weak transcription	Colonic Mucosa	Colon
8	chr3:133654400-133662200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:133654400-133662600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:133654400-133662600	Weak transcription	Small Intestine	intestine
11	chr3:133654600-133662600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:133654800-133661400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:133655000-133661400	Weak transcription	Stomach Mucosa	stomach
14	chr3:133655600-133662600	Weak transcription	Fetal Kidney	kidney
15	chr3:133656000-133661000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:133656200-133660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:133656800-133660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:133656800-133662600	Weak transcription	Brain Anterior Caudate	brain
19	chr3:133657000-133661000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:133657000-133661800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:133657000-133662200	Weak transcription	NHDF-Ad	bronchial
22	chr3:133657000-133662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:133657200-133661400	Weak transcription	Fetal Stomach	stomach
24	chr3:133657400-133661200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:133657400-133662600	Weak transcription	Left Ventricle	heart
26	chr3:133657400-133663000	Weak transcription	Aorta	Aorta
27	chr3:133658400-133661800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:133658600-133660400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:133658600-133662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:133659200-133665400	Enhancers	Fetal Muscle Leg	muscle
31	chr3:133659600-133661600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:133659800-133660800	Bivalent Enhancer	NH-A	brain
33	chr3:133659800-133661200	Weak transcription	Spleen	Spleen
34	chr3:133659800-133662600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:133659800-133662600	Enhancers	Hela-S3	cervix
36	chr3:133659800-133662800	Enhancers	HUVEC	blood vessel
37	chr3:133659800-133665400	Enhancers	Fetal Lung	lung
38	chr3:133659800-133665600	Enhancers	Primary hematopoietic stem cells	blood
39	chr3:133659800-133665600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:133660000-133660800	Enhancers	Liver	Liver
41	chr3:133660000-133663400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:133660200-133660400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:133660200-133660400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:133660200-133660400	Enhancers	Brain Hippocampus Middle	brain
45	chr3:133660200-133660600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:133660200-133660600	Enhancers	Right Atrium	heart
47	chr3:133660200-133660800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:133660200-133660800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:133660200-133660800	Enhancers	HSMM	muscle
50	chr3:133660200-133660800	Bivalent Enhancer	Osteobl	bone

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