Variant report

Variant	rs543952753
Chromosome Location	chr13:30761516-30761517
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	chr13:30760581..30762539-chr13:30772437..30773991,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3386665	chr13:30760452-30764350	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30747600-30766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:30754000-30798800	Weak transcription	Brain Anterior Caudate	brain
3	chr13:30755200-30766600	Weak transcription	Fetal Kidney	kidney
4	chr13:30756600-30764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:30757600-30774200	Weak transcription	Left Ventricle	heart
6	chr13:30759800-30761800	Enhancers	Fetal Thymus	thymus
7	chr13:30760000-30761800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:30760000-30761800	Enhancers	Fetal Brain Female	brain
9	chr13:30760400-30761800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:30760400-30762000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr13:30760600-30761600	Enhancers	Primary T cells from cord blood	blood
12	chr13:30760600-30761600	Enhancers	Fetal Brain Male	brain
13	chr13:30760600-30762200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:30760800-30761600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:30760800-30761800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:30760800-30781800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:30761000-30761800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:30761200-30761600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr13:30761200-30761800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:30761200-30765200	Weak transcription	Fetal Intestine Small	intestine
21	chr13:30761200-30769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:30761400-30761800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:30761400-30769400	Weak transcription	Thymus	Thymus

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