Variant report

Variant	esv3426189
Chromosome Location	chr13:30970061-30970424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30963591..30965165-chr13:30969250..30971365,2	MCF-7	breast:
2	chr13:30969352..30972567-chr13:31037950..31040897,3	MCF-7	breast:
3	chr13:30968472..30970868-chr13:30994775..30998357,4	MCF-7	breast:
4	chr13:30970361..30972231-chr13:30975578..30977977,2	MCF-7	breast:
5	chr13:30968769..30970411-chr13:31191447..31193805,2	MCF-7	breast:
6	chr1:35330757..35333004-chr13:30969945..30972502,2	MCF-7	breast:
7	chr13:30968958..30971854-chr13:30981722..30984094,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132952	chromatin interactions
ENSG00000189403	chromatin interactions
ENSG00000225039	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573684305	chr13:30970073-30970074	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs200859580	chr13:30970086-30970087	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs143735574	chr13:30970126-30970127	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs572323080	chr13:30970139-30970140	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs575925629	chr13:30970146-30970147	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542990619	chr13:30970147-30970148	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112515539	chr13:30970178-30970179	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs190346103	chr13:30970192-30970193	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201990865	chr13:30970194-30970195	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs28702441	chr13:30970195-30970196	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs9551908	chr13:30970232-30970233	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs9551909	chr13:30970247-30970248	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs201751519	chr13:30970248-30970249	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs9551910	chr13:30970249-30970250	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs183263950	chr13:30970300-30970301	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs188970505	chr13:30970301-30970302	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs112270667	chr13:30970303-30970304	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs74046008	chr13:30970401-30970402	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192264367	chr13:30970413-30970414	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30968400-30970200	Active TSS	Right Atrium	heart
2	chr13:30968400-30970200	Flanking Active TSS	Dnd41	blood
3	chr13:30968600-30970200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr13:30968600-30970200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:30968600-30970200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr13:30968600-30970200	Active TSS	Stomach Smooth Muscle	stomach
7	chr13:30968600-30970200	Flanking Active TSS	GM12878-XiMat	blood
8	chr13:30968600-30970400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:30968600-30970400	Active TSS	Osteobl	bone
10	chr13:30968600-30970800	Active TSS	Duodenum Mucosa	Duodenum
11	chr13:30968800-30970200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:30968800-30970200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:30968800-30970200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:30968800-30970200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr13:30968800-30970200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:30968800-30970200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr13:30968800-30970200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:30968800-30970200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:30968800-30970200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:30968800-30970200	Active TSS	Aorta	Aorta
21	chr13:30968800-30970200	Active TSS	Brain Angular Gyrus	brain
22	chr13:30968800-30970200	Active TSS	Brain Cingulate Gyrus	brain
23	chr13:30968800-30970200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr13:30968800-30970200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:30968800-30970200	Active TSS	Brain Substantia Nigra	brain
26	chr13:30968800-30970200	Active TSS	Colonic Mucosa	Colon
27	chr13:30968800-30970200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr13:30968800-30970200	Active TSS	Fetal Intestine Large	intestine
29	chr13:30968800-30970200	Active TSS	Fetal Kidney	kidney
30	chr13:30968800-30970200	Active TSS	Fetal Lung	lung
31	chr13:30968800-30970200	Active TSS	Fetal Stomach	stomach
32	chr13:30968800-30970200	Active TSS	Psoas Muscle	Psoas
33	chr13:30968800-30970200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr13:30968800-30970200	Active TSS	NH-A	brain
35	chr13:30968800-30970200	Active TSS	NHDF-Ad	bronchial
36	chr13:30968800-30970200	Active TSS	NHLF	lung
37	chr13:30968800-30970400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:30968800-30970400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:30968800-30970600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:30968800-30970600	Active TSS	A549	lung
41	chr13:30968800-30970800	Active TSS	Brain Anterior Caudate	brain
42	chr13:30968800-30970800	Active TSS	Brain Hippocampus Middle	brain
43	chr13:30969000-30970200	Active TSS	Adipose Nuclei	Adipose
44	chr13:30969000-30970400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr13:30969000-30970400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:30969000-30970400	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr13:30969000-30970400	Flanking Active TSS	HUVEC	blood vessel
48	chr13:30969000-30970800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr13:30969200-30970200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr13:30969200-30970200	Flanking Active TSS	Primary T cells from cord blood	blood

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