Variant report

Variant	rs553040976
Chromosome Location	chr13:30450191-30450192
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	chr13:30447631..30451155-chr13:30452905..30455154,3	K562	blood:
2	chr13:30436149..30438044-chr13:30448324..30450735,2	MCF-7	breast:

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv275533	chr13:30449638-30452454	Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30447600-30451600	Weak transcription	Stomach Mucosa	stomach
2	chr13:30449000-30450200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:30449000-30450200	Enhancers	Brain Cingulate Gyrus	brain
4	chr13:30449000-30450200	Enhancers	Brain Hippocampus Middle	brain
5	chr13:30449000-30450400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:30449000-30450400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:30449000-30450600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:30449200-30450200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:30449200-30450600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:30449200-30450600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:30449200-30451000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:30449400-30450200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:30449400-30450200	Enhancers	HMEC	breast
14	chr13:30449400-30450400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:30449400-30450600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30449600-30450200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:30449600-30450200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:30449600-30450200	Enhancers	Brain Substantia Nigra	brain
19	chr13:30449600-30450200	Enhancers	NHEK	skin
20	chr13:30449600-30452600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:30449600-30458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:30449800-30451600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:30449800-30451800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:30449800-30451800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:30449800-30451800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:30450000-30450200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr13:30450000-30450200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:30450000-30457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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