Variant report

Variant	nsv466183
Chromosome Location	chr9:11305052-11561438
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:62609117..62610638-chr9:11453391..11454911,2	K562	blood:
2	chr11:13082457..13083259-chr9:11319197..11319700,2	MCF-7	breast:
3	chr17:41381793..41383489-chr9:11453391..11454891,3	K562	blood:
4	chr9:10855837..10856356-chr9:11319207..11319905,2	MCF-7	breast:
5	chr9:10855589..10857004-chr9:11319142..11320476,6	MCF-7	breast:
6	chr9:10366359..10367238-chr9:11319480..11320059,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TYRP1-1	chr9:11313363-11313595	XLOC_007282
2	lnc-TYRP1-1	chr9:11325743-11325750	XLOC_007282

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 4653 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4653 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115952460	chr9:11312815-11312816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571716687	chr9:11312842-11312843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370418853	chr9:11312846-11312847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148176636	chr9:11312907-11312908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73397429	chr9:11312974-11312975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187549665	chr9:11313009-11313010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538248404	chr9:11313019-11313020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368337935	chr9:11313103-11313104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141086885	chr9:11313105-11313106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538730296	chr9:11313181-11313182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557946610	chr9:11313223-11313224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115433970	chr9:11313289-11313290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543602066	chr9:11313324-11313325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563616288	chr9:11313341-11313342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192968390	chr9:11313374-11313375	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs573942657	chr9:11313419-11313420	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs542649086	chr9:11313429-11313430	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs569731732	chr9:11313470-11313471	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs561743976	chr9:11313542-11313543	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371943680	chr9:11313580-11313581	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528209337	chr9:11313587-11313588	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs1577433	chr9:11313596-11313597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368848304	chr9:11313610-11313611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564973379	chr9:11313611-11313612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370906536	chr9:11313612-11313613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548410681	chr9:11313645-11313646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531057110	chr9:11313699-11313700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575155449	chr9:11313701-11313702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542553040	chr9:11313714-11313715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567625547	chr9:11313726-11313727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536498495	chr9:11313727-11313728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113951559	chr9:11313739-11313740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546610974	chr9:11313780-11313781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566494199	chr9:11313795-11313796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539005948	chr9:11313818-11313819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561133448	chr9:11313824-11313825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373197757	chr9:11313826-11313827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528309811	chr9:11313910-11313911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182954693	chr9:11313916-11313917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1577432	chr9:11313922-11313923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557146714	chr9:11313982-11313983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77298545	chr9:11314015-11314016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534188522	chr9:11314016-11314017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368861752	chr9:11314031-11314032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150257550	chr9:11314098-11314099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572779881	chr9:11314111-11314112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138887790	chr9:11314138-11314139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564869400	chr9:11314168-11314169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572112782	chr9:11314171-11314172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187540952	chr9:11314191-11314192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11312800-11313600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:11312800-11313600	Enhancers	Brain Hippocampus Middle	brain
3	chr9:11313000-11313400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:11313000-11313400	Enhancers	Brain Cingulate Gyrus	brain
5	chr9:11313000-11313600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:11313000-11313600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:11313000-11313800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:11313600-11314600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:11318000-11321800	Enhancers	Fetal Brain Male	brain
10	chr9:11318200-11319200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:11318200-11319800	Enhancers	Fetal Brain Female	brain
12	chr9:11318800-11320000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:11318800-11320200	Enhancers	Brain Germinal Matrix	brain
14	chr9:11319200-11320200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:11319600-11320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:11319600-11320400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:11319800-11320800	Weak transcription	Fetal Brain Female	brain
18	chr9:11320800-11321600	Enhancers	Fetal Brain Female	brain
19	chr9:11321800-11322600	Weak transcription	Fetal Brain Male	brain
20	chr9:11322600-11322800	Enhancers	Fetal Brain Male	brain
21	chr9:11326000-11326400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:11328400-11328600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:11330400-11330600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:11330600-11330800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:11335000-11335600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:11337800-11338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:11337800-11338600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr9:11337800-11338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:11338000-11339000	Enhancers	Primary hematopoietic stem cells	blood
30	chr9:11340400-11340800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:11347200-11349400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:11347400-11349400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:11347600-11349400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:11348200-11348800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr9:11348200-11349600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:11348400-11348800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:11348400-11349400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr9:11348600-11349200	Enhancers	Brain Germinal Matrix	brain
39	chr9:11348800-11349400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:11349000-11349400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:11349000-11349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:11349400-11352800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:11351600-11351800	Enhancers	Brain Germinal Matrix	brain
44	chr9:11351800-11353600	Weak transcription	Brain Germinal Matrix	brain
45	chr9:11352200-11352800	Enhancers	Fetal Heart	heart
46	chr9:11352600-11353000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:11352800-11353000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:11353000-11353400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:11353000-11355600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:11353400-11356600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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