Variant report

Variant	esv1843197
Chromosome Location	chr13:49529799-49536705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49518698..49520988-chr13:49531338..49533079,2	K562	blood:
2	chr13:49535111..49537978-chr13:49544443..49546396,2	K562	blood:
3	chr13:49535149..49536967-chr13:49548289..49550226,2	K562	blood:

Variant related genes	Relation type
ENSG00000102531	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7324415	chr13:49529799-49529800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143244687	chr13:49529816-49529817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12876671	chr13:49529839-49529840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78620703	chr13:49529960-49529961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139016293	chr13:49529969-49529970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545291353	chr13:49529972-49529973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28519644	chr13:49529997-49529998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28532318	chr13:49530004-49530005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9568138	chr13:49530018-49530019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527498937	chr13:49530103-49530104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542383731	chr13:49530104-49530105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147061335	chr13:49530180-49530181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35288199	chr13:49530189-49530190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138504201	chr13:49530190-49530191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181434582	chr13:49530237-49530238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549012495	chr13:49530312-49530313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184180124	chr13:49530381-49530382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188510985	chr13:49530392-49530393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180957314	chr13:49530451-49530452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571416089	chr13:49530465-49530466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185833269	chr13:49530514-49530515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555983659	chr13:49530532-49530533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568992970	chr13:49530656-49530657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567412245	chr13:49530731-49530732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538055207	chr13:49530760-49530761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537939408	chr13:49530827-49530828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556247127	chr13:49530870-49530871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544444129	chr13:49530901-49530902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530601919	chr13:49530941-49530942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34607485	chr13:49530950-49530951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34215553	chr13:49530960-49530961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544645632	chr13:49530967-49530968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34828504	chr13:49530969-49530970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550588936	chr13:49530975-49530976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572223816	chr13:49530978-49530979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7330857	chr13:49531002-49531003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs368820264	chr13:49531003-49531004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192413131	chr13:49531009-49531010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560546068	chr13:49531013-49531014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138298133	chr13:49531048-49531049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112875645	chr13:49531057-49531058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562798148	chr13:49531066-49531067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533376548	chr13:49531125-49531126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141949303	chr13:49531167-49531168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567190380	chr13:49531225-49531226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150660185	chr13:49531245-49531246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182031807	chr13:49531249-49531250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567863785	chr13:49531280-49531281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527719117	chr13:49531426-49531427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538401797	chr13:49531491-49531492	Weak transcription	n/a	n/a	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
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49527800-49530600	Enhancers	Fetal Intestine Large	intestine
2	chr13:49528200-49530600	Enhancers	Fetal Intestine Small	intestine
3	chr13:49528800-49529800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:49529000-49529800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:49529000-49530600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:49529400-49529800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:49529800-49532000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:49530600-49530800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr13:49531800-49532800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr13:49532000-49532800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:49532800-49535200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr13:49535200-49536200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr13:49535400-49536000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:49536400-49536800	Enhancers	K562	blood

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