Variant report

Variant	esv3327569
Chromosome Location	chr13:48743550-48798094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:48759722..48761535-chr13:48765446..48768314,2	K562	blood:
2	chr13:48794842..48796984-chr13:49105821..49107922,2	MCF-7	breast:
3	chr13:48784546..48786736-chr13:48788727..48791333,2	K562	blood:
4	chr13:48784546..48786736-chr13:48788727..48791333,2	K562	blood:
5	chr13:48796669..48798523-chr13:48852161..48854469,2	K562	blood:
6	chr13:48759722..48761535-chr13:48765446..48768314,2	K562	blood:
7	chr13:48791747..48798562-chr13:48804762..48808839,8	MCF-7	breast:
8	chr13:48738757..48741557-chr13:48751933..48753971,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136161	chromatin interactions
ENSG00000136156	chromatin interactions

Extended variants
information (count: 1699 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1699 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567159364	chr13:48743558-48743559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141837091	chr13:48743639-48743640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56984522	chr13:48743712-48743713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397709232	chr13:48743724-48743725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549531837	chr13:48743763-48743764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80149741	chr13:48743765-48743766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201567788	chr13:48743774-48743775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567785969	chr13:48743778-48743779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58733622	chr13:48743807-48743808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74756442	chr13:48743865-48743866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571177129	chr13:48743871-48743872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9534974	chr13:48743872-48743873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs374900683	chr13:48743891-48743892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553394993	chr13:48743897-48743898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114917979	chr13:48743914-48743915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542542980	chr13:48743970-48743971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554713778	chr13:48743995-48743996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558471023	chr13:48744026-48744027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34876613	chr13:48744037-48744038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74563225	chr13:48744048-48744049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565643053	chr13:48744084-48744085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568678612	chr13:48744086-48744087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150641775	chr13:48744191-48744192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562834969	chr13:48744198-48744199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372770698	chr13:48744234-48744235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536119024	chr13:48744334-48744335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548102663	chr13:48744410-48744411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34055732	chr13:48744452-48744453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191856323	chr13:48744455-48744456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113168801	chr13:48744456-48744457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35056075	chr13:48744463-48744464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140055047	chr13:48744466-48744467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148777622	chr13:48744468-48744469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527960850	chr13:48744481-48744482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143812986	chr13:48744493-48744494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4942753	chr13:48744613-48744614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182847954	chr13:48744669-48744670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550400386	chr13:48744674-48744675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571002758	chr13:48744705-48744706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538383766	chr13:48744736-48744737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553331755	chr13:48744742-48744743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112834787	chr13:48744791-48744792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139672672	chr13:48744877-48744878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187871190	chr13:48744879-48744880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150070854	chr13:48744905-48744906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145402717	chr13:48744964-48744965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369422770	chr13:48744986-48744987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148836616	chr13:48745033-48745034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536219474	chr13:48745038-48745039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578127788	chr13:48745067-48745068	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Malignant fibrous histiocytomas	21085701	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
Ovarian cancer	22355333	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
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	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
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48735400-48743600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:48738200-48746200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr13:48740200-48746000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr13:48746000-48746600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:48746000-48746600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:48746200-48746800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr13:48746600-48747600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr13:48746600-48748200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr13:48746800-48748000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr13:48747000-48747600	Active TSS	Placenta	Placenta
11	chr13:48747000-48756000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr13:48747600-48748200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr13:48748000-48749800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:48748200-48748800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr13:48748200-48749600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr13:48748800-48749000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr13:48749000-48749200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr13:48749200-48749800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr13:48749400-48749800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:48749800-48755200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr13:48749800-48760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:48754000-48754400	Weak transcription	Fetal Kidney	kidney
23	chr13:48754400-48756000	Enhancers	Fetal Kidney	kidney
24	chr13:48755200-48755800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr13:48755200-48762800	Enhancers	Primary B cells from cord blood	blood
26	chr13:48755600-48755800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr13:48755600-48756200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:48755600-48756200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:48755600-48756200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:48755600-48756400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr13:48755600-48760000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr13:48755600-48760000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr13:48755600-48760200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:48755800-48756000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:48755800-48756200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:48755800-48756200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:48755800-48756200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:48755800-48756200	Enhancers	GM12878-XiMat	blood
39	chr13:48755800-48756200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr13:48755800-48756600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:48755800-48759600	Enhancers	Primary T cells from cord blood	blood
42	chr13:48755800-48760200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr13:48755800-48763000	Enhancers	Primary B cells from peripheral blood	blood
44	chr13:48756000-48756200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr13:48756000-48756200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr13:48756000-48756200	Enhancers	Fetal Thymus	thymus
47	chr13:48756000-48757400	Enhancers	Dnd41	blood
48	chr13:48756000-48757600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr13:48756000-48760000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr13:48756200-48756400	Enhancers	Monocytes-CD14+_RO01746	blood

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