Variant report

Variant	esv3397886
Chromosome Location	chr13:50166651-50168899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50158665..50162522-chr13:50168019..50171007,4	MCF-7	breast:
2	chr13:50158880..50161532-chr13:50167908..50169542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136144	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11618136	chr13:50166690-50166691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10870840	chr13:50166701-50166702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11618148	chr13:50166715-50166716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10870841	chr13:50166748-50166749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11510231	chr13:50166778-50166779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372633287	chr13:50166791-50166792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370826407	chr13:50166846-50166847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375131242	chr13:50166890-50166891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368785948	chr13:50166902-50166903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372157116	chr13:50166934-50166935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374804660	chr13:50167006-50167007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367744825	chr13:50167158-50167159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558979171	chr13:50167177-50167178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371669350	chr13:50167379-50167380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568661161	chr13:50167411-50167412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576513472	chr13:50167503-50167504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542100076	chr13:50167548-50167549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544118404	chr13:50167658-50167659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565406446	chr13:50167675-50167676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532778808	chr13:50167692-50167693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375300472	chr13:50167721-50167722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567719590	chr13:50167752-50167753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377202326	chr13:50167753-50167754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532824655	chr13:50167756-50167757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369428696	chr13:50167773-50167774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541053039	chr13:50167796-50167797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559318228	chr13:50167797-50167798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191410831	chr13:50167798-50167799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146180464	chr13:50167835-50167836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567292774	chr13:50167847-50167848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373285142	chr13:50167851-50167852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563498541	chr13:50167918-50167919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7330830	chr13:50167929-50167930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
34	rs552458848	chr13:50167950-50167951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570684832	chr13:50167959-50167960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7329454	chr13:50167960-50167961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs546662461	chr13:50167961-50167962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568022255	chr13:50167971-50167972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550686674	chr13:50168010-50168011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570478437	chr13:50168025-50168026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374527308	chr13:50168163-50168164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3851161	chr13:50168168-50168169	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs557065157	chr13:50168186-50168187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576593470	chr13:50168223-50168224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs3890387	chr13:50168231-50168232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559084087	chr13:50168247-50168248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187507884	chr13:50168283-50168284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570664035	chr13:50168315-50168316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112022032	chr13:50168368-50168369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200071435	chr13:50168369-50168370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50160600-50169200	Weak transcription	Esophagus	oesophagus
2	chr13:50166000-50168400	Weak transcription	HepG2	liver
3	chr13:50168400-50169200	Enhancers	HepG2	liver
4	chr13:50168800-50169000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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