Variant report

Variant	nsv562207
Chromosome Location	chr13:70197635-70288258
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	chr13:70271603..70273702-chr13:70276559..70278431,2	K562	blood:
2	chr13:70207003..70207565-chr6:110796356..110796874,2	MCF-7	breast:
3	chr13:70249631..70251882-chr13:70253333..70255746,2	K562	blood:
4	chr11:65198093..65198776-chr13:70273636..70274136,2	Hela-S3	cervix:
5	chr13:70249631..70251882-chr13:70253333..70255746,2	K562	blood:
6	chr13:70271603..70273702-chr13:70276559..70278431,2	K562	blood:
7	chr13:70192216..70195164-chr13:70199916..70202276,2	MCF-7	breast:
8	chr13:70281102..70281979-chr16:2731851..2732580,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167977	chromatin interactions

Extended variants
information (count: 1000 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1000 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9572205	chr13:70197635-70197636	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546261848	chr13:70197666-70197667	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562749985	chr13:70197678-70197679	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531685225	chr13:70197685-70197686	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548624654	chr13:70197714-70197715	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562390974	chr13:70197724-70197725	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527908742	chr13:70197743-70197744	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547580009	chr13:70197756-70197757	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117045271	chr13:70197795-70197796	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567000270	chr13:70197806-70197807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539154386	chr13:70197851-70197852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140926360	chr13:70197859-70197860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569568855	chr13:70197876-70197877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535393339	chr13:70197887-70197888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543240932	chr13:70197904-70197905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572352475	chr13:70197911-70197912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539290574	chr13:70197930-70197931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145068170	chr13:70197936-70197937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs138864125	chr13:70197937-70197938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs207474003	chr13:70198029-70198030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577872199	chr13:70198035-70198036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546325152	chr13:70198140-70198141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573416701	chr13:70198151-70198152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182900153	chr13:70198159-70198160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565326717	chr13:70198161-70198162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142185435	chr13:70198195-70198196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576374979	chr13:70198204-70198205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs542184716	chr13:70198260-70198261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562292419	chr13:70198283-70198284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568328271	chr13:70198286-70198287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs59949861	chr13:70198448-70198449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs527968659	chr13:70198469-70198470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs9572207	chr13:70198491-70198492	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs59120173	chr13:70198570-70198571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577712437	chr13:70198650-70198651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544755434	chr13:70198655-70198656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565104800	chr13:70198667-70198668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187557077	chr13:70198669-70198670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533320747	chr13:70198677-70198678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549623024	chr13:70198690-70198691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569714495	chr13:70198692-70198693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532484036	chr13:70198693-70198694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9564581	chr13:70198791-70198792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548961375	chr13:70198798-70198799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112554771	chr13:70200600-70200601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79629543	chr13:70200601-70200602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559519748	chr13:70200603-70200604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71116932	chr13:70200621-70200622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572964330	chr13:70200624-70200625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372449455	chr13:70200628-70200629	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70197000-70197800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:70197400-70198600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr13:70197600-70198000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr13:70197600-70198400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:70198600-70198800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:70200600-70200800	Enhancers	Pancreas	Pancrea
7	chr13:70217600-70219200	Enhancers	GM12878-XiMat	blood
8	chr13:70217800-70218800	Enhancers	Liver	Liver
9	chr13:70218800-70219400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:70228000-70228400	Active TSS	Liver	Liver
11	chr13:70228400-70228600	Enhancers	Liver	Liver
12	chr13:70250400-70251000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:70255800-70258800	Active TSS	K562	blood
14	chr13:70257800-70259600	Enhancers	Fetal Intestine Large	intestine
15	chr13:70257800-70259600	Enhancers	Fetal Intestine Small	intestine
16	chr13:70258000-70258400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr13:70258000-70258800	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:70258000-70259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:70258000-70259600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:70258200-70258600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:70258200-70258800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:70258200-70259400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:70258200-70259800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:70258600-70259000	Active TSS	GM12878-XiMat	blood
25	chr13:70258600-70259800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:70258600-70260000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:70258800-70263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:70259400-70259800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:70259400-70259800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr13:70259400-70265000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:70259600-70260800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:70259800-70262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:70259800-70264600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr13:70259800-70264800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:70260000-70264600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:70260800-70261400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:70261400-70261800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:70261800-70262600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:70262200-70262800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:70263800-70264000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:70264600-70265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:70264600-70265400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr13:70264800-70265600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:70265000-70265400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:70265000-70265400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr13:70276400-70294200	Weak transcription	Hela-S3	cervix
47	chr13:70277800-70279200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr13:70278600-70278800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr13:70280400-70280600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr13:70280600-70281600	Enhancers	Pancreatic Islets	Pancreatic Islet

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