Variant report

Variant	nsv1046227
Chromosome Location	chr13:69402973-69543492
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:11)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69514136..69516850-chr13:69517321..69519328,2	K562	blood:
2	chr13:69443623..69445703-chr13:69462131..69463652,2	K562	blood:
3	chr13:69438717..69440624-chr13:69443493..69445736,2	MCF-7	breast:
4	chr13:69438717..69440624-chr13:69443493..69445736,2	MCF-7	breast:
5	chr13:69514136..69516850-chr13:69517321..69519328,2	K562	blood:
6	chr13:68878193..68879007-chr13:69501325..69502164,3	MCF-7	breast:
7	chr13:69468479..69470579-chr13:69472768..69475321,2	MCF-7	breast:
8	chr13:69468479..69470579-chr13:69472768..69475321,2	MCF-7	breast:
9	chr13:69342465..69344656-chr13:69450218..69452422,2	K562	blood:
10	chr13:68308872..68310810-chr13:69501547..69503078,2	MCF-7	breast:
11	chr13:69443623..69445703-chr13:69462131..69463652,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL1-1	chr13:69459309-69459457	NONHSAT034238
2	lnc-KLHL1-1	chr13:69435419-69438548	XLOC_010651
3	lnc-KLHL1-1	chr13:69444195-69444346	NONHSAT034238
4	lnc-KLHL1-1	chr13:69444195-69444346	XLOC_010651
5	lnc-KLHL1-1	chr13:69459309-69459457	XLOC_010651
6	lnc-KLHL1-1	chr13:69435417-69438548	NONHSAT034238

No data

Extended variants
information (count: 2893 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2893 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192647166	chr13:69404200-69404201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544895967	chr13:69404208-69404209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7339058	chr13:69404219-69404220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184580418	chr13:69404248-69404249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140099730	chr13:69404338-69404339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187658785	chr13:69404354-69404355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143679258	chr13:69404357-69404358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374907071	chr13:69404408-69404409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369604337	chr13:69404440-69404441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569040760	chr13:69404472-69404473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115180698	chr13:69404491-69404492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4411392	chr13:69404498-69404499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573998764	chr13:69404536-69404537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536643929	chr13:69404541-69404542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370644845	chr13:69404551-69404552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573019723	chr13:69404556-69404557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545063115	chr13:69404574-69404575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55994724	chr13:69404576-69404577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112307219	chr13:69404655-69404656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544625138	chr13:69404656-69404657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561615222	chr13:69404685-69404686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530289367	chr13:69404692-69404693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551584431	chr13:69404714-69404715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559866870	chr13:69404715-69404716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554153907	chr13:69404726-69404727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75170844	chr13:69404755-69404756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192569516	chr13:69404818-69404819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569102745	chr13:69404842-69404843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184933856	chr13:69404844-69404845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7321098	chr13:69404880-69404881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150487285	chr13:69404886-69404887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111978105	chr13:69404921-69404922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568355641	chr13:69404930-69404931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533814776	chr13:69404943-69404944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145381549	chr13:69404970-69404971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73207873	chr13:69404996-69404997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538774713	chr13:69405013-69405014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558622462	chr13:69405025-69405026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575472448	chr13:69405036-69405037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544799141	chr13:69405051-69405052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561277808	chr13:69405062-69405063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575099585	chr13:69405071-69405072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149217523	chr13:69405093-69405094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571576637	chr13:69405108-69405109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560226125	chr13:69405114-69405115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532124723	chr13:69405135-69405136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143048400	chr13:69405213-69405214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111337369	chr13:69405236-69405237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377542977	chr13:69405295-69405296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531271120	chr13:69405378-69405379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69404200-69406000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:69419800-69420600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:69420200-69420600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr13:69420600-69448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:69421200-69421800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:69421400-69422000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr13:69424200-69424800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:69424200-69425200	Enhancers	NH-A	brain
9	chr13:69438000-69438200	ZNF genes & repeats	Pancreas	Pancrea
10	chr13:69439600-69440200	Active TSS	Fetal Brain Male	brain
11	chr13:69443000-69443200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:69443200-69443600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:69443600-69444400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:69448600-69448800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:69453000-69454800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:69458200-69458400	Enhancers	Fetal Brain Male	brain
17	chr13:69458200-69458600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:69458200-69458600	Enhancers	Fetal Brain Female	brain
19	chr13:69458600-69459600	Weak transcription	Fetal Brain Male	brain
20	chr13:69459200-69459600	Enhancers	Brain Hippocampus Middle	brain
21	chr13:69459400-69459600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:69459400-69459800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:69459600-69460000	Enhancers	Fetal Brain Male	brain
24	chr13:69459600-69460400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:69459600-69466800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:69462800-69463200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:69463200-69472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:69464000-69467400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:69465600-69465800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:69465800-69471400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:69466600-69467000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:69466600-69467400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr13:69466800-69467000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:69466800-69467600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:69467000-69467200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr13:69467000-69467600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:69467000-69467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:69467000-69471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:69467200-69471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:69467200-69471400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:69467400-69467800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:69467400-69471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr13:69467600-69468200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:69467600-69468600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:69467800-69468200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:69467800-69471600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:69468600-69469000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:69471200-69472200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr13:69471400-69472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:69471400-69472200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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