Variant report

Variant	nsv1019436
Chromosome Location	chr9:11033008-11247205
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:33)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:11047509..11049109-chr9:11061184..11063575,2	MCF-7	breast:
2	chr9:11044597..11046205-chr9:11057945..11060223,2	MCF-7	breast:
3	chr9:11056337..11059587-chr9:11061284..11064646,4	K562	blood:
4	chr9:11047509..11049109-chr9:11061184..11063575,2	MCF-7	breast:
5	chr9:11063987..11066726-chr9:11070793..11073075,2	MCF-7	breast:
6	chr9:11059291..11061789-chr9:11063668..11065240,2	MCF-7	breast:
7	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
8	chr9:11039996..11042346-chr9:11065271..11066776,2	K562	blood:
9	chr16:12541131..12541857-chr9:11173536..11174397,2	MCF-7	breast:
10	chr9:11039996..11042346-chr9:11065271..11066776,2	K562	blood:
11	chr9:11056159..11057837-chr9:11062194..11064646,2	K562	blood:
12	chr9:11052013..11055648-chr9:11062078..11065783,4	K562	blood:
13	chr1:210502189..210502757-chr9:11220602..11221102,2	HCT-116	colon:
14	chr9:11047082..11049411-chr9:11061377..11064321,2	K562	blood:
15	chr9:11053156..11054741-chr9:11055812..11058059,2	K562	blood:
16	chr9:11049044..11051208-chr9:11053146..11055450,2	K562	blood:
17	chr9:11056337..11059587-chr9:11061284..11064646,4	K562	blood:
18	chr9:11052013..11055648-chr9:11062078..11065783,4	K562	blood:
19	chr9:11059291..11061789-chr9:11063668..11065240,2	MCF-7	breast:
20	chr9:11063987..11066726-chr9:11070793..11073075,2	MCF-7	breast:
21	chr9:11026162..11028762-chr9:11041183..11043715,2	K562	blood:
22	chr9:11064416..11066663-chr9:11091382..11093294,2	MCF-7	breast:
23	chr9:11056159..11057837-chr9:11062194..11064646,2	K562	blood:
24	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
25	chr9:11051115..11054715-chr9:11062496..11065504,4	K562	blood:
26	chr9:11049044..11051208-chr9:11053146..11055450,2	K562	blood:
27	chr9:11044597..11046205-chr9:11057945..11060223,2	MCF-7	breast:
28	chr9:11115862..11118704-chr9:11119627..11122004,2	MCF-7	breast:
29	chr9:11047082..11049411-chr9:11061377..11064321,2	K562	blood:
30	chr9:11064416..11066663-chr9:11091382..11093294,2	MCF-7	breast:
31	chr9:11051115..11054715-chr9:11062496..11065504,4	K562	blood:
32	chr9:11115862..11118704-chr9:11119627..11122004,2	MCF-7	breast:
33	chr9:11053156..11054741-chr9:11055812..11058059,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-2	chr9:11097567-11097597	XLOC_007644
2	lnc-PTPRD-3	chr9:11143876-11144029	XLOC_007645
3	lnc-PTPRD-3	chr9:11172260-11172372	XLOC_007645
4	lnc-PTPRD-3	chr9:11159533-11159565	XLOC_007645
5	lnc-PTPRD-2	chr9:11108072-11109984	XLOC_007644
6	lnc-PTPRD-3	chr9:11194276-11194381	XLOC_007645

No data

Variant related genes	Relation type
ENSG00000054392	chromatin interactions
CSNK1G2	miRNA target sites
CSRNP3	miRNA target sites

Extended variants
information (count: 4298 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:4298 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577057265	chr9:11033058-11033059	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368583373	chr9:11033064-11033065	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10116149	chr9:11033102-11033103	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534459872	chr9:11033103-11033104	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556169559	chr9:11033125-11033126	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs72708757	chr9:11033148-11033149	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541880950	chr9:11033165-11033166	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75993696	chr9:11033193-11033194	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2151663	chr9:11033228-11033229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541607257	chr9:11033229-11033230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112404531	chr9:11033253-11033254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144013112	chr9:11033262-11033263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550226939	chr9:11033270-11033271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563307325	chr9:11033277-11033278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533575689	chr9:11033281-11033282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115775805	chr9:11033291-11033292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73402925	chr9:11033296-11033297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139980957	chr9:11033314-11033315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528619506	chr9:11033364-11033365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74557172	chr9:11033404-11033405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370013082	chr9:11033407-11033408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570576979	chr9:11033413-11033414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78200633	chr9:11033449-11033450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556481625	chr9:11033530-11033531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569994849	chr9:11033539-11033540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7032881	chr9:11033545-11033546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115859745	chr9:11033592-11033593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367576938	chr9:11033606-11033607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544400550	chr9:11033613-11033614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544314906	chr9:11033627-11033628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558300713	chr9:11033660-11033661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77930064	chr9:11033665-11033666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559938435	chr9:11033704-11033705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7032802	chr9:11033715-11033716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143455768	chr9:11033748-11033749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7032820	chr9:11033749-11033750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs200633291	chr9:11033756-11033757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13299494	chr9:11033757-11033758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199606255	chr9:11033758-11033759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191657089	chr9:11033800-11033801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200327527	chr9:11033809-11033810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560432422	chr9:11033812-11033813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574467205	chr9:11033820-11033821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577111244	chr9:11033863-11033864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528538868	chr9:11033886-11033887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10125396	chr9:11033931-11033932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571748282	chr9:11033939-11033940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184427318	chr9:11033945-11033946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550047207	chr9:11033968-11033969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79995744	chr9:11033988-11033989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
Bipolar disorder	19114987	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Melanoma	20688739	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11032400-11033400	Enhancers	Fetal Heart	heart
2	chr9:11032600-11033400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:11032800-11033200	Active TSS	Fetal Lung	lung
4	chr9:11032800-11033400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:11033000-11033200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:11033000-11033400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:11033000-11033400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:11033200-11038000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:11033400-11033600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:11033400-11037400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:11033400-11037400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:11033400-11037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr9:11033600-11033800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:11033600-11037600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:11035600-11037600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:11037400-11039600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:11037400-11040000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:11037600-11039800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:11037600-11040000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:11037600-11040200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:11037800-11038400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr9:11037800-11039400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:11038000-11039200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:11038400-11038800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:11038400-11039400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:11039200-11040400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:11039600-11040000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr9:11040000-11045000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:11040200-11045400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:11041600-11061800	Weak transcription	Hela-S3	cervix
31	chr9:11044800-11063200	Weak transcription	K562	blood
32	chr9:11045000-11045800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:11045200-11045800	Enhancers	Fetal Brain Male	brain
34	chr9:11045400-11046000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:11045800-11051200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:11046000-11051400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:11047400-11047600	Enhancers	Fetal Brain Male	brain
38	chr9:11051200-11052400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:11051200-11052400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:11051400-11051600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:11051400-11052200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:11051400-11052200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr9:11051400-11052200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr9:11051400-11052400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:11051600-11051800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr9:11051800-11052000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:11051800-11052400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:11052000-11052200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr9:11052200-11052400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:11052200-11063200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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