Variant report

Variant	rs9814016
Chromosome Location	chr3:52598981-52598982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13325325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17052143	1.00[EUR][1000 genomes]
rs28413740	1.00[EUR][1000 genomes]
rs28434358	1.00[EUR][1000 genomes]
rs28636773	1.00[EUR][1000 genomes]
rs34540591	1.00[EUR][1000 genomes]
rs35394357	1.00[EUR][1000 genomes]
rs9813653	1.00[EUR][1000 genomes]
rs9814833	1.00[EUR][1000 genomes]
rs9815559	1.00[EUR][1000 genomes]
rs9824342	1.00[EUR][1000 genomes]
rs9828432	1.00[EUR][1000 genomes]
rs9834363	1.00[EUR][1000 genomes]
rs9834919	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9836894	1.00[EUR][1000 genomes]
rs9842960	1.00[EUR][1000 genomes]
rs9843055	1.00[EUR][1000 genomes]
rs9844178	1.00[EUR][1000 genomes]
rs9845752	1.00[EUR][1000 genomes]
rs9857947	1.00[EUR][1000 genomes]
rs9864989	1.00[EUR][1000 genomes]
rs9868332	1.00[EUR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv822092	chr3:52598226-52601851	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 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	chr3:52572400-52633000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:52574400-52623800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:52574800-52605000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:52576800-52625600	Strong transcription	Fetal Thymus	thymus
5	chr3:52577000-52599000	Strong transcription	Fetal Muscle Leg	muscle
6	chr3:52577200-52599000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:52577600-52605200	Strong transcription	Dnd41	blood
8	chr3:52578200-52625600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:52578400-52600600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:52578800-52599600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr3:52578800-52601400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr3:52579000-52599200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:52581000-52601000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:52583200-52600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:52583200-52600800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr3:52584600-52599000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr3:52585800-52627400	Weak transcription	Fetal Heart	heart
18	chr3:52587000-52602400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:52587600-52599200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:52589400-52599000	Strong transcription	Liver	Liver
22	chr3:52589600-52611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:52591200-52599000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:52591200-52601400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:52591400-52599200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:52591400-52599200	Strong transcription	Fetal Intestine Large	intestine
28	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:52592400-52599000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:52592400-52601600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:52592600-52607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:52592600-52610400	Weak transcription	A549	lung
33	chr3:52594400-52607800	Weak transcription	Aorta	Aorta
34	chr3:52594400-52614800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:52595200-52599600	Strong transcription	Fetal Intestine Small	intestine
36	chr3:52595200-52631000	Weak transcription	Stomach Mucosa	stomach
37	chr3:52595400-52599600	Strong transcription	Fetal Stomach	stomach
38	chr3:52595800-52599000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:52595800-52607800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:52596000-52599400	Weak transcription	Hela-S3	cervix
41	chr3:52596000-52600000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:52596000-52600800	Strong transcription	Osteobl	bone
43	chr3:52596000-52607600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:52596000-52608200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:52596000-52608200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:52596000-52608200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:52596000-52611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:52596000-52612400	Weak transcription	Gastric	stomach
49	chr3:52596000-52622800	Weak transcription	K562	blood
50	chr3:52596000-52624200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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