Variant report

Variant	esv1849650
Chromosome Location	chr13:91511967-91550954
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:27)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91536777..91538491-chr13:91540801..91543310,2	K562	blood:
2	chr13:91512444..91516276-chr13:91517137..91519909,3	MCF-7	breast:
3	chr13:91531749..91534348-chr13:91535188..91537664,2	K562	blood:
4	chr13:91243496..91244031-chr13:91519248..91519751,2	MCF-7	breast:
5	chr13:91527569..91530005-chr13:91531749..91534567,2	K562	blood:
6	chr13:91520684..91521356-chr13:91620487..91621149,2	MCF-7	breast:
7	chr13:91512444..91516276-chr13:91517137..91519909,3	MCF-7	breast:
8	chr13:91536777..91538491-chr13:91540801..91543310,2	K562	blood:
9	chr13:91514664..91516726-chr13:91517055..91518670,2	K562	blood:
10	chr13:91519286..91519842-chr9:133933376..133933886,2	K562	blood:
11	chr13:91531749..91534348-chr13:91535188..91537664,2	K562	blood:
12	chr13:91524739..91526552-chr13:91528193..91530987,2	K562	blood:
13	chr13:91525314..91527907-chr13:92001971..92004831,2	K562	blood:
14	chr13:91527534..91530490-chr13:91638435..91640751,2	K562	blood:
15	chr13:91514664..91516726-chr13:91517055..91518670,2	K562	blood:
16	chr13:91404020..91406454-chr13:91520186..91522246,2	K562	blood:
17	chr13:91535763..91536557-chr13:91620508..91621127,3	MCF-7	breast:
18	chr13:91535395..91538269-chr13:91626547..91628248,2	K562	blood:
19	chr13:91524739..91527901-chr13:91528193..91530987,3	K562	blood:
20	chr13:91520865..91523016-chr13:91524396..91526519,2	K562	blood:
21	chr13:91491529..91492308-chr13:91519210..91520043,2	MCF-7	breast:
22	chr13:91526194..91530065-chr13:91999219..92001514,3	K562	blood:
23	chr13:91524739..91526552-chr13:91528193..91530987,2	K562	blood:
24	chr13:91520865..91523016-chr13:91524396..91526519,2	K562	blood:
25	chr13:91524739..91527901-chr13:91528193..91530987,3	K562	blood:
26	chr13:91527569..91530005-chr13:91531749..91534567,2	K562	blood:
27	chr13:91540464..91542436-chr13:92007500..92010085,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-8	chr13:91543208-91544695	XLOC_010689
2	lnc-DCT-8	chr13:91545641-91545794	XLOC_010689

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions
KALRN	miRNA target sites
KANK1	miRNA target sites

Extended variants
information (count: 1097 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1097 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9523146	chr13:91511967-91511968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542389972	chr13:91511988-91511989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554007170	chr13:91512009-91512010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572467420	chr13:91512013-91512014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370727331	chr13:91512021-91512022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372727243	chr13:91512023-91512024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559813356	chr13:91512040-91512041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528485127	chr13:91512061-91512062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531648191	chr13:91512072-91512073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16944850	chr13:91512080-91512081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370161226	chr13:91512087-91512088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561960259	chr13:91512126-91512127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374927719	chr13:91512161-91512162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571771473	chr13:91512256-91512257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186935119	chr13:91512297-91512298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111597341	chr13:91512303-91512304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565660273	chr13:91512323-91512324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532998346	chr13:91512394-91512395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11843712	chr13:91512420-91512421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190252068	chr13:91512427-91512428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536648271	chr13:91512476-91512477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77393756	chr13:91512487-91512488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79454007	chr13:91512513-91512514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535685321	chr13:91512598-91512599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146025274	chr13:91512602-91512603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572448715	chr13:91512637-91512638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546236248	chr13:91512668-91512669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550907910	chr13:91512670-91512671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11839533	chr13:91512682-91512683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377709532	chr13:91512688-91512689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543815565	chr13:91512702-91512703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182775274	chr13:91512736-91512737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529767658	chr13:91512765-91512766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371195951	chr13:91512870-91512871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187366401	chr13:91512910-91512911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534157138	chr13:91512928-91512929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140216288	chr13:91512938-91512939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112938028	chr13:91512939-91512940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72375430	chr13:91512940-91512941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61288697	chr13:91512942-91512943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559459044	chr13:91512944-91512945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532976826	chr13:91512960-91512961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9301697	chr13:91512965-91512966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192328248	chr13:91512978-91512979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80120029	chr13:91513012-91513013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548534002	chr13:91513040-91513041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139469330	chr13:91513059-91513060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568680411	chr13:91513150-91513151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34049632	chr13:91513152-91513153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536097180	chr13:91513207-91513208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91506200-91513400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:91509000-91513200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:91509000-91513200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:91510200-91513600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:91513200-91513800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:91513200-91513800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:91513400-91513800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:91513600-91514000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:91514000-91524600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:91517800-91518000	Enhancers	Fetal Kidney	kidney
11	chr13:91518000-91519800	Weak transcription	Fetal Kidney	kidney
12	chr13:91518200-91518800	Enhancers	HepG2	liver
13	chr13:91518400-91519600	Enhancers	Fetal Intestine Large	intestine
14	chr13:91518400-91520000	Enhancers	Stomach Mucosa	stomach
15	chr13:91518400-91520200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:91518400-91520200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr13:91518600-91520200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr13:91518800-91519000	Enhancers	Duodenum Mucosa	Duodenum
19	chr13:91518800-91519400	Flanking Active TSS	HepG2	liver
20	chr13:91518800-91519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:91518800-91519600	Enhancers	Fetal Intestine Small	intestine
22	chr13:91519000-91519600	Active TSS	Duodenum Mucosa	Duodenum
23	chr13:91519000-91520600	Enhancers	Fetal Lung	lung
24	chr13:91519200-91519600	Enhancers	Fetal Muscle Trunk	muscle
25	chr13:91519200-91520600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:91519400-91520200	Enhancers	HepG2	liver
27	chr13:91519600-91521200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:91519800-91520000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:91519800-91520200	Enhancers	NH-A	brain
30	chr13:91519800-91520400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:91519800-91520600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:91519800-91520600	Enhancers	A549	lung
33	chr13:91519800-91521000	Enhancers	Fetal Kidney	kidney
34	chr13:91520000-91520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr13:91520400-91520600	Enhancers	HSMMtube	muscle
36	chr13:91520600-91521800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:91521200-91522200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:91522000-91522200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:91524400-91525400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr13:91524600-91525000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr13:91524600-91525200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:91524600-91525400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:91524600-91525400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr13:91524600-91525400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr13:91524800-91525400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr13:91525200-91532400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:91542400-91542600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr13:91542400-91544000	Enhancers	Fetal Kidney	kidney
49	chr13:91542600-91543400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:91543400-91543800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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