Variant report

Variant	rs74050233
Chromosome Location	chr14:55306252-55306253
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55300705..55303430-chr14:55305101..55307686,2	K562	blood:
2	chr14:55304408..55306842-chr14:55369413..55371033,2	MCF-7	breast:
3	chr14:55305231..55308673-chr14:55367563..55370969,7	MCF-7	breast:
4	chr14:55303907..55306505-chr14:55308047..55309664,2	K562	blood:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55821645	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56313126	1.00[AMR][1000 genomes]
rs74050278	1.00[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	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55293800-55306400	Weak transcription	Aorta	Aorta
2	chr14:55299200-55308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55301000-55310000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:55301800-55306400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:55303200-55306600	Enhancers	Fetal Intestine Small	intestine
6	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:55304000-55306800	Enhancers	Fetal Intestine Large	intestine
8	chr14:55304200-55306400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:55304400-55307200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:55304600-55307000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:55304800-55306600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:55304800-55308000	Weak transcription	Lung	lung
13	chr14:55304800-55309200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:55305000-55306400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:55305000-55320400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:55305200-55307200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:55305200-55307600	Weak transcription	Primary B cells from cord blood	blood
18	chr14:55305200-55308000	Weak transcription	Esophagus	oesophagus
19	chr14:55305200-55308000	Weak transcription	Thymus	Thymus
20	chr14:55305200-55312200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:55305400-55307200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:55305400-55307600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:55305400-55314000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
26	chr14:55305600-55307200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:55305600-55307200	Weak transcription	GM12878-XiMat	blood
28	chr14:55305600-55313200	Strong transcription	Primary T cells from cord blood	blood
29	chr14:55305800-55306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:55305800-55306800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:55305800-55307000	Enhancers	Stomach Mucosa	stomach
32	chr14:55305800-55307400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:55305800-55308800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:55305800-55313000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:55305800-55313200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:55305800-55313600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr14:55305800-55321000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
39	chr14:55306000-55306800	Enhancers	Pancreas	Pancrea
40	chr14:55306000-55307400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr14:55306000-55308600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:55306000-55308600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:55306000-55309000	Weak transcription	Right Ventricle	heart
44	chr14:55306000-55314200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr14:55306200-55306600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr14:55306200-55306600	Enhancers	HepG2	liver
47	chr14:55306200-55309400	Enhancers	Liver	Liver
48	chr14:55306200-55320800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum

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