Variant report

Variant	rs4480646
Chromosome Location	chr13:30478505-30478506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30421587..30425867-chr13:30475246..30480026,6	MCF-7	breast:
2	chr13:30422727..30425929-chr13:30478315..30480794,4	MCF-7	breast:
3	chr13:30475291..30479868-chr13:30496674..30499474,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	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	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	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30475400-30480600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30475600-30478600	Enhancers	HSMMtube	muscle
3	chr13:30475800-30478600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr13:30476600-30478600	Enhancers	Fetal Muscle Leg	muscle
5	chr13:30476600-30479800	Weak transcription	Fetal Intestine Small	intestine
6	chr13:30476800-30479600	Weak transcription	Fetal Intestine Large	intestine
7	chr13:30476800-30481600	Weak transcription	GM12878-XiMat	blood
8	chr13:30476800-30482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:30476800-30484000	Weak transcription	Esophagus	oesophagus
10	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
11	chr13:30477000-30478600	Enhancers	Fetal Lung	lung
12	chr13:30477000-30478600	Enhancers	Hela-S3	cervix
13	chr13:30477000-30479600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr13:30477000-30479600	Weak transcription	Osteobl	bone
15	chr13:30477000-30479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:30477000-30479800	Weak transcription	Ovary	ovary
17	chr13:30477000-30479800	Weak transcription	HMEC	breast
18	chr13:30477000-30481000	Weak transcription	Stomach Mucosa	stomach
19	chr13:30477000-30482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:30477000-30482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:30477000-30484800	Weak transcription	A549	lung
22	chr13:30477000-30492400	Weak transcription	Pancreas	Pancrea
23	chr13:30477200-30478600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr13:30477200-30478600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr13:30477200-30479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:30477200-30479800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:30477200-30479800	Weak transcription	NHEK	skin
28	chr13:30477200-30481000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:30477200-30481800	Weak transcription	Fetal Stomach	stomach
30	chr13:30477200-30482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:30477200-30482400	Weak transcription	NHLF	lung
32	chr13:30477200-30484200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:30477400-30479600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:30477400-30479800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:30477400-30479800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:30477400-30483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:30477400-30486000	Weak transcription	Adipose Nuclei	Adipose
38	chr13:30477600-30479600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr13:30477600-30479800	Weak transcription	Placenta	Placenta
40	chr13:30477600-30482200	Weak transcription	HSMM	muscle
41	chr13:30477600-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:30477600-30484000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:30477600-30484200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:30477800-30478600	Enhancers	Fetal Brain Male	brain
45	chr13:30478000-30478600	Enhancers	Fetal Muscle Trunk	muscle
46	chr13:30478000-30479000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr13:30478000-30479800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr13:30478000-30481400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr13:30478200-30478600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:30478400-30478600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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