Variant report

Variant	rs2332427
Chromosome Location	chr14:71003435-71003436
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr14:71003336-71003632	K562	blood:	n/a	n/a

Variant related genes	Relation type
ADAM20	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2233133	1.00[AMR][1000 genomes]
rs2233134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36045882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55945353	1.00[EUR][1000 genomes]
rs57439677	1.00[EUR][1000 genomes]
rs57974328	1.00[AMR][1000 genomes]
rs60541388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61734856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148976	1.00[EUR][1000 genomes]
rs73290343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73291971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73291974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73291978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8006905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8008053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010985	1.00[AMR][1000 genomes]
rs8011142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8011336	1.00[AMR][1000 genomes]
rs8012392	1.00[AMR][1000 genomes]
rs8014629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv565042	chr14:70951234-71011734	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1050615	chr14:70954149-71013235	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv2763072	chr14:70954149-71013247	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70982000-71003600	Weak transcription	HSMM	muscle
2	chr14:70985800-71003800	Weak transcription	HSMMtube	muscle
3	chr14:70987800-71005800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:70988000-71028200	Weak transcription	Esophagus	oesophagus
5	chr14:70988000-71029800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:70988400-71003800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:70988800-71028800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:70990400-71029600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:70991200-71006400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:70991400-71003800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:70991400-71028200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:70991600-71003800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70991600-71003800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:70991600-71003800	Weak transcription	Aorta	Aorta
15	chr14:70991600-71003800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:70991600-71003800	Weak transcription	Ovary	ovary
17	chr14:70991600-71003800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:70991600-71003800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:70991600-71003800	Weak transcription	Spleen	Spleen
20	chr14:70991600-71004000	Weak transcription	Right Ventricle	heart
21	chr14:70991600-71004000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:70991600-71004200	Weak transcription	Pancreas	Pancrea
23	chr14:70991600-71014600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:70991600-71022400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:70991600-71028200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:70991600-71028800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:70991800-71003800	Weak transcription	Left Ventricle	heart
28	chr14:70991800-71011800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:70992200-71022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:70999800-71003800	Weak transcription	Adipose Nuclei	Adipose
31	chr14:70999800-71022400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:70999800-71024600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:70999800-71029200	Weak transcription	Brain Anterior Caudate	brain
34	chr14:70999800-71030200	Weak transcription	Brain Angular Gyrus	brain
35	chr14:71000000-71028800	Weak transcription	Primary T cells from cord blood	blood
36	chr14:71000400-71003600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:71000400-71003800	Weak transcription	Liver	Liver
38	chr14:71002000-71003800	Weak transcription	Lung	lung
39	chr14:71003000-71003800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:71003200-71005000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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