Variant report

Variant	nsv57685
Chromosome Location	chr13:30169644-30169648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30169255..30170193-chr3:73159968..73160573,2	Hela-S3	cervix:
2	chr13:30168902..30170623-chr13:47369921..47372567,2	MCF-7	breast:
3	chr13:30093611..30096522-chr13:30167989..30170777,2	MCF-7	breast:
4	chr13:30069723..30071518-chr13:30169502..30172461,2	MCF-7	breast:
5	chr13:30169260..30170181-chr14:23398301..23399025,2	HCT-116	colon:
6	chr13:30168293..30169921-chr13:31039031..31041940,2	K562	blood:

Variant related genes	Relation type
ENSG00000223247	chromatin interactions
ENSG00000139684	chromatin interactions
ENSG00000257285	chromatin interactions
ENSG00000189403	chromatin interactions
ENSG00000100462	chromatin interactions
ENSG00000139514	chromatin interactions
ENSG00000132938	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 83 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140060217	chr13:30169644-30169645	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30167400-30170400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr13:30167400-30170400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:30167600-30170200	Active TSS	GM12878-XiMat	blood
4	chr13:30167600-30170400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:30167600-30170400	Active TSS	A549	lung
6	chr13:30167600-30170400	Active TSS	Hela-S3	cervix
7	chr13:30167600-30170600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:30167800-30170400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr13:30167800-30170600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:30168000-30170000	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr13:30168000-30170000	Active TSS	HMEC	breast
12	chr13:30168000-30170200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:30168000-30170400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr13:30168000-30170400	Active TSS	K562	blood
15	chr13:30168200-30170000	Active TSS	Stomach Smooth Muscle	stomach
16	chr13:30168200-30170200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:30168200-30170200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr13:30168200-30170400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr13:30168200-30170400	Active TSS	Right Ventricle	heart
20	chr13:30168200-30170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:30168200-30170600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr13:30168200-30170600	Active TSS	Fetal Brain Female	brain
23	chr13:30168400-30170000	Active TSS	Fetal Muscle Trunk	muscle
24	chr13:30168400-30170000	Active TSS	HSMM	muscle
25	chr13:30168400-30170200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr13:30168400-30170200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:30168400-30170200	Active TSS	Brain Angular Gyrus	brain
28	chr13:30168400-30170200	Active TSS	Brain Cingulate Gyrus	brain
29	chr13:30168400-30170200	Active TSS	Fetal Kidney	kidney
30	chr13:30168400-30170200	Active TSS	Fetal Stomach	stomach
31	chr13:30168400-30170200	Active TSS	Gastric	stomach
32	chr13:30168400-30170200	Active TSS	Left Ventricle	heart
33	chr13:30168400-30170400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr13:30168400-30170400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:30168400-30170400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr13:30168400-30170400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:30168400-30170400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:30168400-30170400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:30168400-30170400	Active TSS	Aorta	Aorta
40	chr13:30168400-30170400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr13:30168400-30170400	Active TSS	Esophagus	oesophagus
42	chr13:30168400-30170400	Active TSS	Fetal Intestine Large	intestine
43	chr13:30168400-30170400	Active TSS	Pancreas	Pancrea
44	chr13:30168400-30170400	Active TSS	NHLF	lung
45	chr13:30168400-30170600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:30168400-30170600	Active TSS	Brain Anterior Caudate	brain
47	chr13:30168400-30170800	Active TSS	Colonic Mucosa	Colon
48	chr13:30168600-30170000	Active TSS	Small Intestine	intestine
49	chr13:30168600-30170200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:30168600-30170200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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