Variant report

Variant	rs549444640
Chromosome Location	chr13:52480959-52480960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52473231..52476356-chr13:52478629..52481911,3	K562	blood:
2	chr13:52480324..52481830-chr13:52493649..52496094,2	MCF-7	breast:
3	chr13:52473231..52476080-chr13:52478629..52481911,3	K562	blood:
4	chr13:52479917..52482346-chr13:52733266..52734768,2	MCF-7	breast:
5	chr13:52474695..52476604-chr13:52478889..52481158,2	MCF-7	breast:
6	chr13:52478878..52481837-chr13:52486558..52489316,5	MCF-7	breast:
7	chr13:52421639..52423143-chr13:52479178..52481096,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136098	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv976115	chr13:52480923-52484571	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52464600-52494400	Weak transcription	Aorta	Aorta
2	chr13:52470800-52481000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:52475600-52493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:52476200-52493800	Weak transcription	K562	blood
5	chr13:52476400-52496600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:52477000-52481800	Strong transcription	Fetal Intestine Small	intestine
7	chr13:52477600-52481800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:52479000-52481000	Weak transcription	Gastric	stomach
9	chr13:52479000-52481400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:52479400-52481600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:52479400-52491000	Weak transcription	Fetal Intestine Large	intestine
12	chr13:52479800-52481400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:52479800-52481400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:52480000-52481400	Enhancers	Brain Substantia Nigra	brain
15	chr13:52480000-52481800	Enhancers	Fetal Heart	heart
16	chr13:52480000-52486200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:52480200-52481200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr13:52480200-52481400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:52480200-52482000	Enhancers	Liver	Liver
20	chr13:52480200-52482000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:52480200-52497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:52480400-52481200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr13:52480400-52481200	Enhancers	Brain Anterior Caudate	brain
24	chr13:52480400-52481400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:52480400-52481600	Enhancers	Fetal Lung	lung
26	chr13:52480400-52481600	Enhancers	Pancreas	Pancrea
27	chr13:52480600-52481000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:52480600-52481200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:52480800-52481200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:52480800-52481200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:52480800-52481200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:52480800-52481200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr13:52480800-52481200	Enhancers	Esophagus	oesophagus
34	chr13:52480800-52481200	Enhancers	Stomach Smooth Muscle	stomach
35	chr13:52480800-52481400	Enhancers	Right Ventricle	heart
36	chr13:52480800-52481800	Enhancers	Left Ventricle	heart
37	chr13:52480800-52481800	Enhancers	Ovary	ovary
38	chr13:52480800-52481800	Enhancers	Spleen	Spleen
39	chr13:52480800-52481800	Enhancers	HepG2	liver

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