Variant report

Variant	rs2802241
Chromosome Location	chr13:30070968-30070969
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	chr13:30059938..30062417-chr13:30069208..30071863,2	MCF-7	breast:
2	chr13:30069723..30071518-chr13:30169502..30172461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction
ENSG00000179141	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs914360	0.82[AFR][1000 genomes]

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	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30065000-30077200	Weak transcription	Fetal Brain Female	brain
4	chr13:30066200-30071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:30068000-30071000	Weak transcription	Dnd41	blood
7	chr13:30068000-30071800	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:30068200-30072600	Weak transcription	Aorta	Aorta
9	chr13:30068400-30071800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr13:30068400-30072000	Enhancers	Primary B cells from cord blood	blood
11	chr13:30068600-30071000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:30068600-30071200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr13:30069400-30071400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr13:30069600-30072400	Enhancers	Fetal Heart	heart
15	chr13:30069800-30071000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr13:30069800-30071400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:30070000-30071400	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:30070200-30071000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:30070200-30071000	Enhancers	HMEC	breast
20	chr13:30070200-30071400	Enhancers	Duodenum Mucosa	Duodenum
21	chr13:30070200-30071400	Enhancers	Esophagus	oesophagus
22	chr13:30070200-30071400	Enhancers	Lung	lung
23	chr13:30070200-30071400	Enhancers	Right Atrium	heart
24	chr13:30070200-30071400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr13:30070200-30071600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:30070200-30071600	Enhancers	Right Ventricle	heart
27	chr13:30070200-30071600	Enhancers	Stomach Smooth Muscle	stomach
28	chr13:30070200-30071600	Enhancers	Spleen	Spleen
29	chr13:30070200-30071800	Enhancers	Brain Cingulate Gyrus	brain
30	chr13:30070200-30071800	Bivalent Enhancer	Placenta	Placenta
31	chr13:30070200-30072000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:30070200-30072000	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr13:30070200-30072200	Enhancers	Fetal Muscle Trunk	muscle
34	chr13:30070200-30072800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:30070200-30072800	Enhancers	Ovary	ovary
36	chr13:30070200-30072800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr13:30070200-30073200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:30070200-30075600	Enhancers	Fetal Stomach	stomach
39	chr13:30070400-30071000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:30070400-30071000	Enhancers	Colon Smooth Muscle	Colon
41	chr13:30070400-30071000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr13:30070400-30071200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:30070400-30071200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr13:30070400-30071200	Enhancers	Fetal Brain Male	brain
45	chr13:30070400-30071600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr13:30070400-30071800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr13:30070400-30071800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
48	chr13:30070400-30071800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr13:30070400-30071800	Enhancers	Fetal Lung	lung
50	chr13:30070400-30072000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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