Variant report

Variant	rs143389579
Chromosome Location	chr13:30646616-30646617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30597069..30597952-chr13:30646033..30646893,3	MCF-7	breast:
2	chr13:30597069..30598073-chr13:30646033..30647325,6	MCF-7	breast:
3	chr13:30594943..30595656-chr13:30646084..30646955,2	MCF-7	breast:
4	chr13:30644483..30648351-chr13:30648983..30651482,3	MCF-7	breast:
5	chr13:30597255..30598072-chr13:30646380..30647355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266505	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	esv3367308	chr13:30645352-30648550	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 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	chr13:30643200-30647200	Enhancers	Pancreas	Pancrea
2	chr13:30643200-30648800	Enhancers	Stomach Mucosa	stomach
3	chr13:30643800-30651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:30645400-30647400	Enhancers	Placenta	Placenta
5	chr13:30645600-30647200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:30645600-30647200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:30645600-30647400	Enhancers	Fetal Intestine Large	intestine
8	chr13:30645600-30647600	Enhancers	Fetal Intestine Small	intestine
9	chr13:30646000-30647400	Enhancers	Duodenum Mucosa	Duodenum
10	chr13:30646200-30646800	Enhancers	Brain Cingulate Gyrus	brain
11	chr13:30646200-30646800	Enhancers	Esophagus	oesophagus
12	chr13:30646200-30646800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr13:30646200-30647000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:30646200-30647000	Enhancers	Brain Hippocampus Middle	brain
15	chr13:30646200-30647000	Enhancers	Brain Substantia Nigra	brain
16	chr13:30646200-30647200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:30646200-30647200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:30646200-30647600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr13:30646400-30646800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:30646400-30646800	Enhancers	Brain Anterior Caudate	brain
21	chr13:30646400-30646800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr13:30646400-30647000	Enhancers	Fetal Lung	lung
23	chr13:30646400-30647000	Enhancers	NHEK	skin
24	chr13:30646600-30646800	Enhancers	Hela-S3	cervix
25	chr13:30646600-30647000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:30646600-30647400	Enhancers	Rectal Mucosa Donor 31	rectum

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