Variant report

Variant	rs74075921
Chromosome Location	chr13:48908350-48908351
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48904305..48906234-chr13:48906368..48908562,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4151491	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151509	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7330085	0.90[AFR][1000 genomes]
rs74075923	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1049681	chr13:48898136-48908675	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1039312	chr13:48898950-48925357	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1038705	chr13:48899219-48922327	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
2	chr13:48880600-48924600	Weak transcription	Psoas Muscle	Psoas
3	chr13:48892600-48927800	Weak transcription	HUVEC	blood vessel
4	chr13:48894400-48913800	Weak transcription	HSMM	muscle
5	chr13:48894600-48919200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:48894800-48913200	Weak transcription	Lung	lung
7	chr13:48895200-48916800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:48895200-48923600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:48895200-48924600	Weak transcription	HSMMtube	muscle
10	chr13:48895400-48912800	Weak transcription	Fetal Thymus	thymus
11	chr13:48895400-48924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:48895600-48913400	Weak transcription	Ovary	ovary
13	chr13:48895800-48919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:48895800-48920400	Weak transcription	Right Ventricle	heart
15	chr13:48895800-48926600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:48896000-48913000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr13:48896000-48913000	Weak transcription	Left Ventricle	heart
18	chr13:48896000-48913000	Weak transcription	Thymus	Thymus
19	chr13:48896000-48919800	Weak transcription	Primary T cells from cord blood	blood
20	chr13:48896600-48913000	Weak transcription	Fetal Lung	lung
21	chr13:48897000-48917000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr13:48897400-48909800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:48900200-48913000	Weak transcription	Fetal Intestine Large	intestine
24	chr13:48902600-48912600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:48902600-48913000	Weak transcription	Esophagus	oesophagus
26	chr13:48903000-48912600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:48903400-48924400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:48904000-48912800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:48906600-48908800	Strong transcription	Dnd41	blood
30	chr13:48906600-48912400	Weak transcription	Primary B cells from cord blood	blood
31	chr13:48906800-48909000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:48907200-48908800	Enhancers	HMEC	breast
33	chr13:48907600-48908400	Enhancers	NHEK	skin
34	chr13:48907600-48908800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:48907600-48909000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:48907600-48909200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:48907800-48908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:48907800-48908800	Enhancers	NHDF-Ad	bronchial
39	chr13:48907800-48909000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:48907800-48909200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:48907800-48909200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:48908000-48908600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:48908000-48908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:48908000-48909000	Enhancers	Osteobl	bone
45	chr13:48908200-48908400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:48908200-48908400	Enhancers	Liver	Liver
47	chr13:48908200-48908400	Enhancers	Small Intestine	intestine
48	chr13:48908200-48908600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:48908200-48908600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr13:48908200-48908600	Enhancers	GM12878-XiMat	blood

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