Variant report

Variant	nsv892037
Chromosome Location	chr9:1605735-1707518
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:1)
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	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
2	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
3	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
4	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
5	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
6	chr9:1100898..1101474-chr9:1619645..1620185,2	MCF-7	breast:
7	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
8	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-2	chr9:1633518-1633545	XLOC_007264

No data

Extended variants
information (count: 3524 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3524 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs702166	chr9:1605735-1605736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540688478	chr9:1605738-1605739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560668991	chr9:1605771-1605772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530208797	chr9:1605799-1605800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74629739	chr9:1605815-1605816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs702167	chr9:1605827-1605828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115069086	chr9:1605829-1605830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139366285	chr9:1605897-1605898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141630726	chr9:1605914-1605915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371368009	chr9:1605926-1605927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150501405	chr9:1605928-1605929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568604462	chr9:1605948-1605949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201055843	chr9:1605955-1605956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542545822	chr9:1605962-1605963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116209909	chr9:1605970-1605971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556129683	chr9:1605989-1605990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1830691	chr9:1606017-1606018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544933974	chr9:1606086-1606087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558442752	chr9:1606093-1606094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548095120	chr9:1606112-1606113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370644307	chr9:1606134-1606135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540651554	chr9:1606135-1606136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539067994	chr9:1606180-1606181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560632455	chr9:1606210-1606211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201436479	chr9:1606217-1606218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369620937	chr9:1606218-1606219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7029804	chr9:1606219-1606220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs702168	chr9:1606249-1606250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187568525	chr9:1606269-1606270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80130535	chr9:1606278-1606279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532123095	chr9:1606295-1606296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566403797	chr9:1606322-1606323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528479473	chr9:1606337-1606338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs702169	chr9:1606338-1606339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375912232	chr9:1606347-1606348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537101467	chr9:1606385-1606386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189040324	chr9:1606415-1606416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139521713	chr9:1606418-1606419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34643543	chr9:1606423-1606424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569717232	chr9:1606452-1606453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149688054	chr9:1606455-1606456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558406341	chr9:1606464-1606465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572041476	chr9:1606473-1606474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375555649	chr9:1606504-1606505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531166606	chr9:1606520-1606521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs702170	chr9:1606539-1606540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs180942375	chr9:1606545-1606546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574384975	chr9:1606593-1606594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186166534	chr9:1606615-1606616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1853421	chr9:1606647-1606648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1603000-1606400	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:1606400-1608000	Enhancers	Fetal Muscle Leg	muscle
3	chr9:1606600-1608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:1608000-1608400	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:1608400-1609200	Enhancers	Fetal Muscle Leg	muscle
6	chr9:1612400-1613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:1612600-1613600	Enhancers	NHEK	skin
8	chr9:1616400-1616600	Bivalent Enhancer	Left Ventricle	heart
9	chr9:1619800-1620000	Enhancers	Brain Substantia Nigra	brain
10	chr9:1619800-1620400	Enhancers	Brain Angular Gyrus	brain
11	chr9:1619800-1620600	Enhancers	Fetal Muscle Leg	muscle
12	chr9:1630000-1630200	Enhancers	Brain Substantia Nigra	brain
13	chr9:1631800-1659000	Weak transcription	Adipose Nuclei	Adipose
14	chr9:1638800-1639800	Enhancers	NHEK	skin
15	chr9:1639000-1639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:1647400-1648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:1647400-1648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:1647400-1648800	Enhancers	NHEK	skin
19	chr9:1647800-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:1648200-1648600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:1648200-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:1658000-1658200	Weak transcription	Pancreas	Pancrea
23	chr9:1658200-1658400	Enhancers	Pancreas	Pancrea
24	chr9:1658400-1659600	Weak transcription	Pancreas	Pancrea
25	chr9:1658800-1660200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:1659000-1659200	Enhancers	Adipose Nuclei	Adipose
27	chr9:1659000-1659600	Enhancers	Colon Smooth Muscle	Colon
28	chr9:1659400-1660000	Enhancers	Fetal Muscle Leg	muscle
29	chr9:1659600-1660000	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:1659600-1660400	Enhancers	Pancreas	Pancrea
31	chr9:1663800-1665800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:1665800-1666600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:1666600-1667200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:1667200-1668000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:1668000-1668200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:1668200-1674800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:1670400-1671800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:1671800-1673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:1673200-1673600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr9:1674800-1675800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:1675800-1679000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:1676000-1678200	Weak transcription	Adipose Nuclei	Adipose
43	chr9:1679000-1679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:1679000-1679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:1679800-1680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:1679800-1683800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:1680800-1681000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:1681800-1682400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr9:1682400-1683600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:1683600-1683800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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