Variant report

Variant	esv3510552
Chromosome Location	chr13:50194960-50197650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr13:50196711-50196990	K562	blood:	n/a	n/a
2	FOXA2	chr13:50197611-50197773	HepG2	liver:	n/a	n/a
3	GATA1	chr13:50196714-50197025	PBDE	blood:	n/a	n/a
4	MYC	chr13:50196901-50196912	K562	blood:	n/a	n/a
5	RCOR1	chr13:50196768-50196939	K562	blood:	n/a	n/a
6	RCOR1	chr13:50196734-50196984	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50191955..50193680-chr13:50196033..50197758,2	MCF-7	breast:

Variant related genes	Relation type
ARL11	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201804800	chr13:50194981-50194982	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs56051442	chr13:50194986-50194987	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs199624209	chr13:50194987-50194988	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148504818	chr13:50194988-50194989	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11617521	chr13:50194991-50194992	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548937804	chr13:50194996-50194997	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs67282093	chr13:50194998-50194999	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182797410	chr13:50195012-50195013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188519983	chr13:50195017-50195018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191669482	chr13:50195032-50195033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183899311	chr13:50195037-50195038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199680782	chr13:50195050-50195051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141943015	chr13:50195053-50195054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151057199	chr13:50195055-50195056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369460310	chr13:50195057-50195058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4942855	chr13:50195096-50195097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs567212829	chr13:50195109-50195110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554100781	chr13:50195111-50195112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530653084	chr13:50195126-50195127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545547109	chr13:50195169-50195170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564184998	chr13:50195170-50195171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9526581	chr13:50195211-50195212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs547575674	chr13:50195272-50195273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61959876	chr13:50195324-50195325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61959877	chr13:50195330-50195331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61959878	chr13:50195335-50195336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61959879	chr13:50195339-50195340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9316468	chr13:50195344-50195345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs61959880	chr13:50195346-50195347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375162140	chr13:50195361-50195362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9316469	chr13:50195401-50195402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs548582619	chr13:50195433-50195434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112172363	chr13:50195442-50195443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374349106	chr13:50195472-50195473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191550802	chr13:50195621-50195622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5803474	chr13:50195672-50195673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398022725	chr13:50195685-50195686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79861895	chr13:50195704-50195705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570922094	chr13:50195730-50195731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147170383	chr13:50195768-50195769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533066679	chr13:50195820-50195821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553165255	chr13:50195850-50195851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2407795	chr13:50195882-50195883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115217406	chr13:50195914-50195915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145483044	chr13:50195925-50195926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575166742	chr13:50195929-50195930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566793969	chr13:50195946-50195947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564064991	chr13:50195960-50195961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528134726	chr13:50196001-50196002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184872102	chr13:50196019-50196020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50190600-50195800	Weak transcription	Ovary	ovary
2	chr13:50191200-50199400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:50192400-50196600	Weak transcription	Fetal Lung	lung
4	chr13:50192800-50196600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:50193600-50195000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:50194400-50195000	Active TSS	HepG2	liver
7	chr13:50194600-50202000	Weak transcription	Esophagus	oesophagus
8	chr13:50194800-50195000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:50194800-50195000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:50194800-50195800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:50194800-50195800	Weak transcription	Fetal Heart	heart
12	chr13:50194800-50195800	Weak transcription	Left Ventricle	heart
13	chr13:50194800-50195800	Weak transcription	Right Ventricle	heart
14	chr13:50194800-50196000	Weak transcription	Right Atrium	heart
15	chr13:50194800-50196600	Weak transcription	Adipose Nuclei	Adipose
16	chr13:50194800-50196600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr13:50194800-50198800	Weak transcription	Lung	lung
18	chr13:50194800-50198800	Weak transcription	Spleen	Spleen
19	chr13:50194800-50199200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:50194800-50199200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:50194800-50199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:50194800-50199600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:50194800-50199600	Weak transcription	Gastric	stomach
24	chr13:50194800-50199600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr13:50194800-50200000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr13:50194800-50201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr13:50194800-50202000	Weak transcription	Primary B cells from cord blood	blood
28	chr13:50194800-50202000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr13:50194800-50202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:50194800-50202000	Weak transcription	Fetal Thymus	thymus
31	chr13:50194800-50202000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:50194800-50202200	Weak transcription	Colonic Mucosa	Colon
33	chr13:50194800-50202200	Weak transcription	K562	blood
34	chr13:50195000-50195800	Weak transcription	HepG2	liver
35	chr13:50195000-50196600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:50195800-50196000	Enhancers	Right Ventricle	heart
37	chr13:50195800-50196200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr13:50195800-50196800	Enhancers	Left Ventricle	heart
39	chr13:50195800-50197000	Enhancers	Ovary	ovary
40	chr13:50195800-50199200	Enhancers	HepG2	liver
41	chr13:50195800-50200400	Enhancers	Fetal Heart	heart
42	chr13:50196000-50196400	Weak transcription	Right Ventricle	heart
43	chr13:50196000-50196800	Enhancers	Right Atrium	heart
44	chr13:50196200-50198600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr13:50196400-50196600	Enhancers	Right Ventricle	heart
46	chr13:50196600-50197000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:50196600-50197000	Enhancers	Adipose Nuclei	Adipose
48	chr13:50196600-50197000	Enhancers	Fetal Lung	lung
49	chr13:50196600-50197000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr13:50196600-50198200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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