Variant report

Variant	rs573530312
Chromosome Location	chr14:65345587-65345588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65333231..65337568-chr14:65342616..65346293,4	K562	blood:
2	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
3	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:
4	chr12:57482006..57484279-chr14:65344658..65346177,2	MCF-7	breast:
5	chr14:65313975..65316632-chr14:65343546..65346097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65344000-65345600	Enhancers	Fetal Heart	heart
2	chr14:65344200-65346000	Flanking Active TSS	K562	blood
3	chr14:65344400-65345600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
4	chr14:65344400-65345600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
5	chr14:65344800-65345600	Weak transcription	Psoas Muscle	Psoas
6	chr14:65345000-65347200	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
8	chr14:65345200-65345600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr14:65345200-65345600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr14:65345200-65345800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr14:65345200-65345800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:65345200-65346400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr14:65345400-65345600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr14:65345400-65345600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:65345400-65345600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:65345400-65345600	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr14:65345400-65345800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr14:65345400-65345800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr14:65345400-65345800	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr14:65345400-65345800	Flanking Active TSS	Right Ventricle	heart
23	chr14:65345400-65346000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr14:65345400-65347200	Active TSS	Left Ventricle	heart
25	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:65345400-65347800	Active TSS	Right Atrium	heart

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