Variant report

Variant	esv3375439
Chromosome Location	chr13:49585551-49589749
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	chr13:49575322..49578422-chr13:49581779..49585645,3	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9316427	chr13:49585580-49585581	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531700313	chr13:49585621-49585622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549516087	chr13:49585626-49585627	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs34798116	chr13:49585649-49585650	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs193236061	chr13:49585659-49585660	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115769090	chr13:49585660-49585661	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185320145	chr13:49585668-49585669	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113041659	chr13:49585684-49585685	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565859737	chr13:49585688-49585689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535549707	chr13:49585722-49585723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555400087	chr13:49585813-49585814	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536220012	chr13:49585828-49585829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554614446	chr13:49585903-49585904	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576160719	chr13:49585951-49585952	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537140798	chr13:49585968-49585969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558724505	chr13:49585989-49585990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575351460	chr13:49586007-49586008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4942796	chr13:49586018-49586019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs545300779	chr13:49586024-49586025	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190216565	chr13:49586027-49586028	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576203190	chr13:49586061-49586062	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369342926	chr13:49586083-49586084	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192816124	chr13:49586158-49586159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75651726	chr13:49586269-49586270	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572663656	chr13:49586282-49586283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373986646	chr13:49586292-49586293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578212120	chr13:49586293-49586294	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376874443	chr13:49586312-49586313	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531637385	chr13:49586321-49586322	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543497520	chr13:49586331-49586332	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565267437	chr13:49586356-49586357	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372013070	chr13:49586395-49586396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111951320	chr13:49586416-49586417	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547290694	chr13:49586485-49586486	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564764919	chr13:49586496-49586497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540437155	chr13:49586619-49586620	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184218234	chr13:49586642-49586643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140709664	chr13:49586660-49586661	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548550896	chr13:49586670-49586671	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144620392	chr13:49586673-49586674	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114643299	chr13:49586678-49586679	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558598652	chr13:49586683-49586684	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570475581	chr13:49586685-49586686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138527370	chr13:49586739-49586740	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554079126	chr13:49586749-49586750	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9591231	chr13:49586766-49586767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542909106	chr13:49586781-49586782	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573749208	chr13:49586815-49586816	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554879069	chr13:49586833-49586834	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542756287	chr13:49586838-49586839	Weak transcription ZNF genes & repeats Strong 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
Breast cancer	21990379	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49553600-49596200	Weak transcription	Ovary	ovary
3	chr13:49557000-49626800	Weak transcription	Right Ventricle	heart
4	chr13:49560000-49587600	Weak transcription	Fetal Kidney	kidney
5	chr13:49560800-49587200	Weak transcription	Small Intestine	intestine
6	chr13:49568000-49598200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:49568800-49626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:49568800-49627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:49572000-49604800	Weak transcription	Aorta	Aorta
10	chr13:49573400-49634800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:49573600-49595600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:49574200-49585800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:49574800-49585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:49575000-49587200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:49576000-49587000	Weak transcription	Brain Germinal Matrix	brain
16	chr13:49576200-49595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:49577200-49586400	Weak transcription	Fetal Brain Female	brain
18	chr13:49578000-49586200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:49578600-49586000	Weak transcription	Osteobl	bone
20	chr13:49578600-49587000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:49578600-49587400	Weak transcription	Fetal Lung	lung
22	chr13:49578600-49596200	Weak transcription	A549	lung
23	chr13:49578800-49586400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:49578800-49587000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:49578800-49587200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:49578800-49587400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:49578800-49593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr13:49578800-49593600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:49578800-49597600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:49579000-49594400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:49579000-49596200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:49579600-49589200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:49579800-49587200	Weak transcription	Brain Anterior Caudate	brain
34	chr13:49579800-49587200	Weak transcription	Lung	lung
35	chr13:49579800-49594600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr13:49579800-49595600	Weak transcription	Fetal Muscle Leg	muscle
37	chr13:49580000-49587600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr13:49580000-49593600	Weak transcription	HepG2	liver
39	chr13:49580200-49586600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:49580200-49586800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr13:49580400-49587800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr13:49580600-49586200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:49580600-49597800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr13:49580800-49587800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:49581200-49595600	Weak transcription	NH-A	brain
46	chr13:49581400-49595600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:49581600-49587600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:49581800-49586200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr13:49581800-49587200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:49581800-49594400	Weak transcription	NHEK	skin

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