Variant report

Variant	nsv471144
Chromosome Location	chr13:69230857-69261811
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69259897..69261382-chr13:69319281..69320393,15	MCF-7	breast:
2	chr13:69258923..69261156-chr13:69263100..69265480,2	K562	blood:
3	chr13:69255286..69258231-chr13:69263633..69265493,2	K562	blood:
4	chr13:69259986..69260836-chr13:69285583..69286413,2	MCF-7	breast:
5	chr13:69259973..69261382-chr13:69319364..69320393,8	MCF-7	breast:
6	chr13:69258057..69262640-chr13:69318281..69322115,7	MCF-7	breast:
7	chr13:69254844..69257160-chr13:69257337..69259897,2	K562	blood:
8	chr13:69259900..69260965-chr13:69319275..69320290,3	MCF-7	breast:
9	chr13:69232704..69235680-chr13:69237810..69239831,2	K562	blood:
10	chr13:69213639..69216422-chr13:69230531..69232946,2	K562	blood:
11	chr13:69261144..69263388-chr13:69284618..69286596,2	MCF-7	breast:
12	chr13:69232704..69235680-chr13:69237810..69239831,2	K562	blood:
13	chr13:69259880..69261273-chr13:69319408..69320273,7	MCF-7	breast:
14	chr13:69260112..69260846-chr13:69285482..69286306,2	MCF-7	breast:
15	chr13:69254844..69257160-chr13:69257337..69259897,2	K562	blood:
16	chr13:69260117..69261169-chr13:69319440..69320437,6	MCF-7	breast:

No data

Extended variants
information (count: 389 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189823202	chr13:69238826-69238827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374174631	chr13:69238835-69238836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs287352	chr13:69238845-69238846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552594083	chr13:69238890-69238891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372770301	chr13:69238913-69238914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538398926	chr13:69238921-69238922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185947	chr13:69238932-69238933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527300465	chr13:69238944-69238945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534926649	chr13:69247415-69247416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557733878	chr13:69247482-69247483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76910076	chr13:69247513-69247514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183202341	chr13:69247519-69247520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559411259	chr13:69247522-69247523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532941429	chr13:69247536-69247537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187370027	chr13:69247537-69247538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191818006	chr13:69247541-69247542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563436524	chr13:69247572-69247573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541920325	chr13:69247586-69247587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182553634	chr13:69247591-69247592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374740530	chr13:69247630-69247631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs287372	chr13:69247634-69247635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541728868	chr13:69247646-69247647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564650446	chr13:69247760-69247761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533659706	chr13:69247764-69247765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558228947	chr13:69250618-69250619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543854423	chr13:69250670-69250671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373541137	chr13:69250734-69250735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560756516	chr13:69250751-69250752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150092900	chr13:69250756-69250757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529804155	chr13:69250776-69250777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567929868	chr13:69250790-69250791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565574758	chr13:69250795-69250796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540177795	chr13:69250854-69250855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78757405	chr13:69250875-69250876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112889042	chr13:69250910-69250911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553143695	chr13:69250916-69250917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551306143	chr13:69250935-69250936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76354629	chr13:69250937-69250938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186159673	chr13:69251019-69251020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190529329	chr13:69251023-69251024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376681274	chr13:69251225-69251226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551793220	chr13:69251269-69251270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556552340	chr13:69251363-69251364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571665916	chr13:69251381-69251382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531031946	chr13:69251392-69251393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551056093	chr13:69251401-69251402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373358925	chr13:69251407-69251408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536829489	chr13:69251425-69251426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117743025	chr13:69251429-69251430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112432615	chr13:69251479-69251480	Enhancers	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69238800-69239000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:69247400-69247800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:69250600-69252000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:69250800-69251000	Enhancers	HSMM	muscle
5	chr13:69251000-69251400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:69251000-69252000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:69251200-69252200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:69252000-69253000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:69252000-69253000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:69252800-69253200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr13:69253000-69253200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:69253000-69253200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:69253000-69253400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:69253200-69256400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:69253200-69260200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:69258400-69260200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:69260200-69260600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:69260200-69260800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:69260200-69260800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:69260200-69264600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:69260400-69260800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr13:69260600-69261400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:69260600-69262800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:69260800-69262200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:69260800-69262200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:69260800-69262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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