Variant report

Variant	nsv1018079
Chromosome Location	chr9:2248103-2271488
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	chr9:2255030..2255773-chr9:2600478..2601011,2	MCF-7	breast:
2	chr9:2257367..2260216-chr9:2810940..2813820,2	MCF-7	breast:
3	chr9:2243537..2246838-chr9:2247520..2250621,4	MCF-7	breast:
4	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
5	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
6	chr9:2242145..2244162-chr9:2246197..2248614,2	MCF-7	breast:
7	chr9:2244966..2246945-chr9:2263682..2266605,2	MCF-7	breast:
8	chr9:2256748..2259220-chr9:2292192..2293911,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-5	chr9:2264485-2264628	NONHSAT129991

No data

Extended variants
information (count: 1350 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1350 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1324205	chr9:2248103-2248104	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191083421	chr9:2248130-2248131	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562958813	chr9:2248171-2248172	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs137888953	chr9:2248198-2248199	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533760920	chr9:2248206-2248207	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114854536	chr9:2248258-2248259	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551721553	chr9:2248260-2248261	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570777783	chr9:2248261-2248262	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183397133	chr9:2248283-2248284	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149461974	chr9:2248296-2248297	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566721921	chr9:2248313-2248314	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147318464	chr9:2248332-2248333	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188333768	chr9:2248347-2248348	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568887743	chr9:2248353-2248354	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537465370	chr9:2248371-2248372	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553991353	chr9:2248398-2248399	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557768251	chr9:2248437-2248438	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577195896	chr9:2248455-2248456	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534266746	chr9:2248498-2248499	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577446059	chr9:2248532-2248533	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115413931	chr9:2248594-2248595	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543158551	chr9:2248610-2248611	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139354726	chr9:2248628-2248629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562029054	chr9:2248637-2248638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576446028	chr9:2248645-2248646	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs193202908	chr9:2248686-2248687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs546319270	chr9:2248721-2248722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143170065	chr9:2248722-2248723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs183224812	chr9:2248798-2248799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs527686437	chr9:2248799-2248800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546958320	chr9:2248807-2248808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs73380717	chr9:2248829-2248830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148572585	chr9:2248831-2248832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371095641	chr9:2248865-2248866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114542265	chr9:2248876-2248877	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187941172	chr9:2248880-2248881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191302387	chr9:2248891-2248892	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs551057679	chr9:2248901-2248902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576370621	chr9:2248902-2248903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570949619	chr9:2248914-2248915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs115139315	chr9:2248916-2248917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs542475960	chr9:2248924-2248925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554045203	chr9:2248939-2248940	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573965178	chr9:2248943-2248944	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536458691	chr9:2248950-2248951	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7040506	chr9:2248955-2248956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183875045	chr9:2248964-2248965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545532483	chr9:2248982-2248983	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs547789355	chr9:2249028-2249029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565371388	chr9:2249034-2249035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
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
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2243400-2253600	Weak transcription	Ovary	ovary
2	chr9:2246200-2251000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr9:2246800-2248600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:2247400-2249000	Enhancers	Stomach Mucosa	stomach
5	chr9:2247800-2248600	Enhancers	A549	lung
6	chr9:2248000-2248600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:2248200-2248800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:2248600-2249000	Flanking Active TSS	A549	lung
9	chr9:2248600-2249800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:2248600-2263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:2248800-2257000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:2249000-2249200	Enhancers	A549	lung
13	chr9:2249000-2250000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:2249000-2253800	Weak transcription	Stomach Mucosa	stomach
15	chr9:2249200-2251800	Weak transcription	A549	lung
16	chr9:2250400-2253600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:2251800-2252200	Enhancers	A549	lung
18	chr9:2252200-2260400	Weak transcription	A549	lung
19	chr9:2252800-2254400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr9:2253000-2253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:2253000-2253200	Enhancers	Fetal Kidney	kidney
22	chr9:2253200-2254200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:2253600-2253800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:2253600-2254000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:2253600-2254600	Enhancers	Ovary	ovary
26	chr9:2253600-2255400	Enhancers	Fetal Muscle Leg	muscle
27	chr9:2253600-2255800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:2253800-2254200	Enhancers	Stomach Mucosa	stomach
29	chr9:2254000-2254200	Enhancers	Fetal Heart	heart
30	chr9:2254000-2254200	Enhancers	Fetal Kidney	kidney
31	chr9:2254000-2255000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:2254000-2255600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:2254200-2254400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:2254200-2254600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:2254200-2254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr9:2254200-2255200	Weak transcription	Fetal Heart	heart
37	chr9:2254400-2255200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:2254400-2255800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr9:2254600-2255400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:2254600-2257400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:2254600-2262800	Weak transcription	Ovary	ovary
42	chr9:2254800-2255200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:2254800-2255400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr9:2255000-2255600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:2255200-2255400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:2255200-2255400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr9:2255200-2255600	Enhancers	Fetal Heart	heart
48	chr9:2255400-2255600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr9:2255400-2260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:2255400-2262800	Weak transcription	Fetal Muscle Leg	muscle

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