Variant report

Variant	esv3482947
Chromosome Location	chr9:2286271-2288068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-6	chr9:2287708-2288332	NONHSAT129989

Extended variants
information (count: 104 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555290917	chr9:2286298-2286299	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575151338	chr9:2286300-2286301	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146756286	chr9:2286301-2286302	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564096112	chr9:2286320-2286321	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373798735	chr9:2286327-2286328	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188803160	chr9:2286367-2286368	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539985860	chr9:2286399-2286400	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553224093	chr9:2286457-2286458	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74706969	chr9:2286458-2286459	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528943247	chr9:2286472-2286473	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193087250	chr9:2286474-2286475	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555660119	chr9:2286475-2286476	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563183388	chr9:2286490-2286491	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1324197	chr9:2286504-2286505	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73382732	chr9:2286520-2286521	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571777054	chr9:2286541-2286542	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373975563	chr9:2286542-2286543	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185884012	chr9:2286633-2286634	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547529120	chr9:2286636-2286637	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149934637	chr9:2286651-2286652	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145019420	chr9:2286662-2286663	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368502039	chr9:2286673-2286674	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76036300	chr9:2286686-2286687	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576025935	chr9:2286704-2286705	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188997645	chr9:2286725-2286726	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570275498	chr9:2286757-2286758	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545120847	chr9:2286785-2286786	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558014481	chr9:2286814-2286815	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577800893	chr9:2286838-2286839	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540418473	chr9:2286839-2286840	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553905811	chr9:2286841-2286842	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191477454	chr9:2286861-2286862	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116546273	chr9:2286891-2286892	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542661434	chr9:2286906-2286907	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184043808	chr9:2286928-2286929	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531315521	chr9:2286930-2286931	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545412420	chr9:2286931-2286932	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75547036	chr9:2286945-2286946	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188582496	chr9:2286967-2286968	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149058882	chr9:2286979-2286980	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567433276	chr9:2286991-2286992	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112913516	chr9:2287034-2287035	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530104540	chr9:2287042-2287043	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549837734	chr9:2287072-2287073	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181380200	chr9:2287085-2287086	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16938252	chr9:2287088-2287089	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557813587	chr9:2287109-2287110	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117637121	chr9:2287138-2287139	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62530627	chr9:2287152-2287153	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544883210	chr9:2287153-2287154	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2263400-2290400	Weak transcription	Right Atrium	heart
2	chr9:2277000-2288000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:2277400-2286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:2281000-2291200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:2282200-2287000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:2282600-2291800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:2283000-2286600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:2283400-2286400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:2283800-2286800	Weak transcription	Pancreas	Pancrea
10	chr9:2284400-2286600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:2285000-2286800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:2285000-2286800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:2285000-2287000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:2285000-2292000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:2285200-2286600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr9:2285400-2286800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:2285600-2287000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:2285600-2287200	Weak transcription	Fetal Kidney	kidney
19	chr9:2285800-2286600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:2286000-2295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:2286200-2286600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:2286200-2287000	Enhancers	Esophagus	oesophagus
23	chr9:2286200-2288000	Enhancers	HepG2	liver
24	chr9:2286400-2286800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:2286400-2287000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:2286400-2287200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:2286600-2287000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:2286600-2287400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:2286600-2287800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:2286600-2288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:2286800-2287400	Enhancers	Pancreas	Pancrea
32	chr9:2286800-2287600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr9:2286800-2292000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:2286800-2293600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:2287000-2287800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:2287000-2288400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:2287000-2290200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr9:2287000-2291400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr9:2287000-2293600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:2287200-2287400	Enhancers	Fetal Kidney	kidney
41	chr9:2287200-2287800	Enhancers	Liver	Liver
42	chr9:2287200-2287800	Enhancers	Fetal Intestine Large	intestine
43	chr9:2287200-2294000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:2287400-2287800	Weak transcription	Pancreas	Pancrea
45	chr9:2287400-2288000	Weak transcription	Fetal Kidney	kidney
46	chr9:2287400-2291600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:2287600-2289400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:2287800-2288000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:2287800-2288000	Enhancers	Pancreas	Pancrea
50	chr9:2287800-2288200	Enhancers	Fetal Muscle Leg	muscle

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