Variant report

Variant	rs12323905
Chromosome Location	chr14:55335468-55335469
allele	C/T
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]
rs10133650	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136545	0.82[ASN][1000 genomes]
rs11158026	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2183081	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2183082	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2183084	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28417208	0.82[ASN][1000 genomes]
rs3783640	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4462519	0.82[AFR][1000 genomes]
rs7155501	0.82[ASN][1000 genomes]
rs8018355	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9989242	0.83[AMR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:55306400-55336800	Weak transcription	Dnd41	blood
5	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
7	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
9	chr14:55321000-55337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:55321200-55337000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:55324800-55337000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:55325000-55337200	Weak transcription	Adipose Nuclei	Adipose
13	chr14:55326200-55336400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:55326600-55336600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:55327000-55336000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:55327000-55336400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:55327000-55338200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:55327200-55336600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:55327200-55336600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:55329400-55337000	Weak transcription	Fetal Intestine Small	intestine
21	chr14:55329400-55347800	Weak transcription	Primary B cells from cord blood	blood
22	chr14:55329600-55337200	Weak transcription	Stomach Mucosa	stomach
23	chr14:55330800-55337200	Weak transcription	Aorta	Aorta
24	chr14:55330800-55347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:55331400-55336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:55331400-55336600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:55331400-55337000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:55331600-55336200	Weak transcription	Hela-S3	cervix
29	chr14:55331600-55336400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:55331600-55337200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:55331800-55344800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:55331800-55347600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:55332800-55338000	Weak transcription	Small Intestine	intestine
34	chr14:55333200-55343800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:55333400-55336600	Weak transcription	Liver	Liver
36	chr14:55333600-55336400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:55333600-55336400	Weak transcription	HepG2	liver
38	chr14:55333600-55336600	Weak transcription	K562	blood
39	chr14:55333600-55337000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:55333600-55337000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:55333600-55337000	Weak transcription	Lung	lung
42	chr14:55333800-55337000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:55333800-55337000	Weak transcription	NHLF	lung
44	chr14:55334000-55336600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:55334000-55337000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:55334000-55337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:55334000-55337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:55334000-55346200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:55334200-55337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:55334200-55337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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