Variant report

Variant	rs74043016
Chromosome Location	chr13:30702174-30702175
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30687032..30689624-chr13:30701987..30704608,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57137792	0.90[AFR][1000 genomes]
rs57510502	1.00[AFR][1000 genomes]
rs59045952	0.90[AFR][1000 genomes]
rs74043015	1.00[AFR][1000 genomes]
rs74043018	1.00[AFR][1000 genomes]
rs74043024	0.90[AFR][1000 genomes]
rs74043026	0.90[AFR][1000 genomes]
rs74043027	0.90[AFR][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	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30694400-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30696400-30707000	Weak transcription	Thymus	Thymus
3	chr13:30696600-30702800	Weak transcription	Fetal Thymus	thymus
4	chr13:30697800-30702200	Enhancers	Colon Smooth Muscle	Colon
5	chr13:30697800-30702600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:30698200-30702400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:30700200-30707000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:30700200-30708000	Weak transcription	NH-A	brain
9	chr13:30700200-30717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:30700600-30702200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:30700800-30702400	Enhancers	Fetal Heart	heart
12	chr13:30700800-30702400	Enhancers	Stomach Mucosa	stomach
13	chr13:30700800-30706800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:30701000-30702200	Enhancers	Gastric	stomach
15	chr13:30701200-30702200	Enhancers	Left Ventricle	heart
16	chr13:30701200-30702800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr13:30701400-30707000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:30701400-30707000	Weak transcription	NHDF-Ad	bronchial
19	chr13:30701600-30703200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr13:30701600-30706400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:30701600-30706600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr13:30701600-30707000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:30701800-30706800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:30701800-30707000	Weak transcription	Osteobl	bone
25	chr13:30702000-30702400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr13:30702000-30703600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:30702000-30706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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