Variant report

Variant	rs57383892
Chromosome Location	chr13:30123481-30123482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30122738..30124853-chr13:30133655..30135999,2	MCF-7	breast:
2	chr13:30116350..30118708-chr13:30122829..30125095,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12428026	0.81[ASN][1000 genomes]
rs3783248	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs914362	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9550481	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9550482	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9551696	0.86[AMR][1000 genomes];0.85[ASN][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	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:30098800-30129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:30104800-30124600	Weak transcription	Right Ventricle	heart
8	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
9	chr13:30106600-30125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr13:30107200-30124200	Weak transcription	Placenta	Placenta
11	chr13:30107400-30129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:30110400-30124200	Weak transcription	HMEC	breast
13	chr13:30110400-30127200	Weak transcription	Brain Angular Gyrus	brain
14	chr13:30112800-30127200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:30112800-30129200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:30113200-30124600	Weak transcription	Brain Anterior Caudate	brain
17	chr13:30113200-30141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:30113600-30124200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:30113600-30129200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:30113800-30136200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:30114400-30126000	Weak transcription	Colon Smooth Muscle	Colon
22	chr13:30115200-30125600	Weak transcription	Left Ventricle	heart
23	chr13:30115600-30124600	Weak transcription	Aorta	Aorta
24	chr13:30115600-30125800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:30115800-30124800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:30117800-30124600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:30117800-30129000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:30118000-30124600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:30118200-30124200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:30119200-30128000	Strong transcription	HepG2	liver
31	chr13:30119400-30128600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:30119400-30128600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:30119400-30129200	Strong transcription	NHEK	skin
34	chr13:30119600-30128200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:30119600-30128600	Strong transcription	GM12878-XiMat	blood
36	chr13:30120000-30127000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr13:30120000-30128400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr13:30120800-30123600	Enhancers	Fetal Heart	heart
39	chr13:30121000-30123600	Enhancers	Pancreas	Pancrea
40	chr13:30121000-30127200	Weak transcription	Brain Substantia Nigra	brain
41	chr13:30121000-30128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:30121200-30123800	Enhancers	HUVEC	blood vessel
43	chr13:30121200-30128800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:30121200-30128800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr13:30121400-30130000	Weak transcription	Adipose Nuclei	Adipose
46	chr13:30121600-30124200	Weak transcription	Ovary	ovary
47	chr13:30121800-30124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr13:30121800-30125400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:30121800-30127800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr13:30121800-30128600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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