Variant report

Variant	rs2128710
Chromosome Location	chr3:53335780-53335781
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11915147	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11919567	0.96[ASN][1000 genomes]
rs12487816	1.00[AMR][1000 genomes]
rs12488901	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12491594	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12492129	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12494167	0.81[AMR][1000 genomes]
rs12496449	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12496915	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12631120	0.81[AMR][1000 genomes]
rs1961499	0.81[AMR][1000 genomes]
rs73843118	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53309400-53351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:53312200-53337400	Weak transcription	Psoas Muscle	Psoas
3	chr3:53315200-53338400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr3:53316400-53337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:53316600-53338600	Strong transcription	Fetal Muscle Leg	muscle
6	chr3:53318000-53345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:53318000-53345800	Weak transcription	Stomach Mucosa	stomach
8	chr3:53321800-53337400	Weak transcription	Fetal Kidney	kidney
9	chr3:53321800-53347600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:53322400-53343600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:53322400-53344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:53322400-53353600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:53322600-53337400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:53323600-53339400	Strong transcription	Fetal Intestine Large	intestine
15	chr3:53324000-53340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:53326600-53336600	Weak transcription	Aorta	Aorta
17	chr3:53326600-53337200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:53326600-53337600	Weak transcription	Brain Angular Gyrus	brain
19	chr3:53326600-53342400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:53326800-53336200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:53326800-53337200	Weak transcription	Esophagus	oesophagus
23	chr3:53326800-53337400	Weak transcription	Colonic Mucosa	Colon
24	chr3:53326800-53337600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:53327000-53335800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:53327000-53337600	Weak transcription	Brain Anterior Caudate	brain
27	chr3:53327200-53358200	Weak transcription	K562	blood
28	chr3:53328000-53347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:53328400-53337000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:53328600-53337400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:53328800-53337200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:53329000-53337000	Weak transcription	Ovary	ovary
33	chr3:53329200-53336800	Weak transcription	Lung	lung
34	chr3:53329200-53337200	Weak transcription	Gastric	stomach
35	chr3:53329200-53337200	Weak transcription	Right Ventricle	heart
36	chr3:53329200-53337200	Weak transcription	Spleen	Spleen
37	chr3:53329200-53337400	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:53329200-53339200	Strong transcription	HUVEC	blood vessel
39	chr3:53330000-53343400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:53330200-53336600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:53330600-53340600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:53331400-53340200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:53331600-53339200	Strong transcription	Primary T cells from cord blood	blood
44	chr3:53331600-53349000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:53331800-53338200	Strong transcription	Fetal Lung	lung
46	chr3:53332000-53336200	Weak transcription	Brain Substantia Nigra	brain
47	chr3:53332000-53338200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr3:53332200-53337600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:53332600-53355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:53332800-53337400	Weak transcription	Fetal Brain Female	brain

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