Variant report

Variant	rs73460549
Chromosome Location	chr13:30740348-30740349
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	chr13:30738759..30741658-chr13:30748183..30751175,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs55805305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73458419	1.00[AMR][1000 genomes]
rs74043036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv561393	chr13:30726893-30748122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30733000-30740600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30733400-30743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:30734000-30744600	Weak transcription	Primary T cells from cord blood	blood
4	chr13:30734600-30745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:30737200-30740600	Enhancers	Adipose Nuclei	Adipose
6	chr13:30738600-30747400	Weak transcription	Spleen	Spleen
7	chr13:30738800-30741000	Weak transcription	Fetal Thymus	thymus
8	chr13:30739000-30741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:30739200-30740400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:30739200-30740400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:30739400-30740400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:30739600-30740400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:30739600-30740400	Enhancers	Fetal Brain Male	brain
14	chr13:30739600-30740600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:30739800-30740400	Active TSS	Brain Angular Gyrus	brain
16	chr13:30739800-30740400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr13:30739800-30740400	Bivalent/Poised TSS	Osteobl	bone
18	chr13:30739800-30740600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:30739800-30740600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr13:30740000-30740400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:30740000-30740400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr13:30740000-30740400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:30740000-30740400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr13:30740000-30740400	Enhancers	Brain Germinal Matrix	brain
25	chr13:30740000-30740400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:30740000-30740400	Enhancers	Fetal Brain Female	brain
27	chr13:30740000-30740400	Bivalent/Poised TSS	NHDF-Ad	bronchial
28	chr13:30740000-30740600	Active TSS	Brain Anterior Caudate	brain
29	chr13:30740000-30741600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:30740200-30740400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:30740200-30740400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:30740200-30740400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:30740200-30740400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
34	chr13:30740200-30740400	Enhancers	Brain Substantia Nigra	brain
35	chr13:30740200-30740600	Active TSS	Duodenum Mucosa	Duodenum
36	chr13:30740200-30740800	Enhancers	Fetal Muscle Leg	muscle

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