Variant report

Variant	nsv466068
Chromosome Location	chr9:1836746-1945517
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:13)
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	chr9:1871691..1874129-chr9:1875284..1877172,2	K562	blood:
2	chr22:39715375..39715923-chr9:1928519..1929019,2	HCT-116	colon:
3	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
4	chr9:1878195..1880083-chr9:1882039..1884162,2	MCF-7	breast:
5	chr9:1709062..1709904-chr9:1836847..1837727,2	MCF-7	breast:
6	chr9:1871691..1874129-chr9:1875284..1877172,2	K562	blood:
7	chr9:1928679..1931491-chr9:2015139..2017174,2	K562	blood:
8	chr9:1878195..1880083-chr9:1882039..1884162,2	MCF-7	breast:
9	chr9:1709091..1710013-chr9:1869550..1870469,3	MCF-7	breast:
10	chr9:1941734..1942417-chr9:2087486..2088282,2	MCF-7	breast:
11	chr9:1709079..1709791-chr9:1869643..1870482,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-1	chr9:1928392-1928689	NONHSAT129979
2	lnc-KIAA0020-9	chr9:1924954-1925274	NONHSAT129978
3	lnc-SMARCA2-2	chr9:1929409-1929562	XLOC_007264
4	lnc-SMARCA2-1	chr9:1925411-1927453	NONHSAT129979
5	lnc-KIAA0020-9	chr9:1929260-1929331	NONHSAT129978
6	lnc-KIAA0020-9	chr9:1930113-1930463	NONHSAT129978
7	lnc-KIAA0020-9	chr9:1925288-1927453	NONHSAT129978
8	lnc-SMARCA2-1	chr9:1929260-1929331	NONHSAT129979
9	lnc-KIAA0020-9	chr9:1918638-1918715	NONHSAT129978
10	lnc-SMARCA2-1	chr9:1930115-1930258	NONHSAT129979
11	lnc-KIAA0020-9	chr9:1917165-1917394	NONHSAT129978
12	lnc-KIAA0020-9	chr9:1917493-1917749	NONHSAT129978
13	lnc-KIAA0020-9	chr9:1930484-1930573	NONHSAT129978

No data

Variant related genes	Relation type
ENSG00000080503	chromatin interactions
ENSG00000100316	chromatin interactions

Extended variants
information (count: 4271 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:4271 , 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	rs12350409	chr9:1837004-1837005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11789914	chr9:1837005-1837006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12337743	chr9:1837057-1837058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184862921	chr9:1837068-1837069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75525649	chr9:1837075-1837076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566024239	chr9:1837102-1837103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12340979	chr9:1837106-1837107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547607200	chr9:1837109-1837110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567430702	chr9:1837123-1837124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536568087	chr9:1837156-1837157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372870207	chr9:1837161-1837162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569663726	chr9:1837167-1837168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189538215	chr9:1837211-1837212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149414176	chr9:1837222-1837223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572042683	chr9:1837281-1837282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77491904	chr9:1837366-1837367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62534167	chr9:1837466-1837467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554752060	chr9:1837473-1837474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574658112	chr9:1837498-1837499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138412902	chr9:1837499-1837500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563806095	chr9:1837545-1837546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532571653	chr9:1837575-1837576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545866173	chr9:1837601-1837602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559842215	chr9:1837630-1837631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528596984	chr9:1837638-1837639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548670766	chr9:1837648-1837649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567494399	chr9:1837687-1837688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529894426	chr9:1837689-1837690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376702684	chr9:1837696-1837697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17654966	chr9:1837769-1837770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549501743	chr9:1837808-1837809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143802205	chr9:1837836-1837837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531702972	chr9:1837845-1837846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117144840	chr9:1837852-1837853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565630131	chr9:1837866-1837867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528932497	chr9:1837870-1837871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554216529	chr9:1837892-1837893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367595969	chr9:1837901-1837902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180671188	chr9:1837903-1837904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544425906	chr9:1837905-1837906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537230437	chr9:1837911-1837912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557674593	chr9:1837913-1837914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184374279	chr9:1837915-1837916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147248488	chr9:1837945-1837946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559505322	chr9:1837951-1837952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573248995	chr9:1837953-1837954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542372693	chr9:1837960-1837961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562150532	chr9:1837996-1837997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548657937	chr9:1838007-1838008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529956621	chr9:1838039-1838040	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1837000-1837800	Enhancers	Gastric	stomach
2	chr9:1837800-1838200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:1839400-1840000	Enhancers	Fetal Brain Female	brain
4	chr9:1839400-1841600	Enhancers	Fetal Brain Male	brain
5	chr9:1839400-1860400	Weak transcription	Adipose Nuclei	Adipose
6	chr9:1839600-1840600	Enhancers	Brain Germinal Matrix	brain
7	chr9:1841600-1845600	Weak transcription	Fetal Brain Male	brain
8	chr9:1844000-1858200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:1845600-1846000	Enhancers	Fetal Brain Male	brain
10	chr9:1845800-1846600	Enhancers	Fetal Brain Female	brain
11	chr9:1846000-1855800	Weak transcription	Fetal Brain Male	brain
12	chr9:1848400-1848600	Enhancers	Fetal Lung	lung
13	chr9:1848600-1849400	Weak transcription	Fetal Lung	lung
14	chr9:1849400-1850200	Enhancers	Fetal Lung	lung
15	chr9:1850000-1850400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:1850200-1851400	Weak transcription	Fetal Lung	lung
17	chr9:1851400-1851600	Enhancers	Fetal Lung	lung
18	chr9:1855800-1856200	Enhancers	Fetal Brain Male	brain
19	chr9:1856200-1857200	Weak transcription	Fetal Brain Male	brain
20	chr9:1857200-1857400	Enhancers	Fetal Brain Male	brain
21	chr9:1857400-1858000	Weak transcription	Fetal Brain Male	brain
22	chr9:1857600-1858000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:1858000-1858200	Enhancers	Fetal Brain Male	brain
24	chr9:1858000-1858400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:1860200-1862000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:1860600-1861800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr9:1861000-1862200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:1861200-1861600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr9:1869600-1870000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr9:1869800-1870000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:1869800-1870000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:1869800-1870000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:1869800-1870400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:1869800-1870400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:1869800-1872000	Enhancers	GM12878-XiMat	blood
36	chr9:1870000-1871800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:1870000-1872200	Enhancers	Brain Germinal Matrix	brain
38	chr9:1870400-1871600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:1870400-1871800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:1870400-1872000	Enhancers	Fetal Brain Male	brain
41	chr9:1870800-1871400	Enhancers	Psoas Muscle	Psoas
42	chr9:1870800-1871600	Enhancers	Fetal Brain Female	brain
43	chr9:1871000-1872200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr9:1871000-1872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:1871200-1871400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:1871200-1872200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr9:1871200-1872400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:1871400-1872000	Enhancers	Fetal Muscle Leg	muscle
49	chr9:1871400-1872600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:1871400-1872800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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