Variant report

Variant	nsv613136
Chromosome Location	chr9:2495675-2515607
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:5)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2496935..2498735-chr9:2499361..2500948,2	MCF-7	breast:
2	chr9:2496935..2498735-chr9:2499361..2500948,2	MCF-7	breast:
3	chr9:2469803..2470606-chr9:2495203..2496152,5	MCF-7	breast:
4	chr9:2469664..2470582-chr9:2495207..2496164,12	MCF-7	breast:
5	chr9:2469587..2470552-chr9:2495208..2496164,11	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2506359-2506540	ENSG00000236404
2	lnc-KIAA0020-1	chr9:2511903-2512046	l_3727_chr9:2411588-2611526_ovary
3	lnc-KIAA0020-1	chr9:2496359-2496540	l_3727_chr9:2411588-2611526_ovary
4	lnc-KIAA0020-1	chr9:2503280-2503403	ENSG00000236404
5	lnc-KIAA0020-1	chr9:2515538-2515717	l_3727_chr9:2411588-2611526_ovary
6	lnc-KIAA0020-1	chr9:2506411-2506540	ENSG00000236404
7	lnc-KIAA0020-1	chr9:2506419-2506540	ENSG00000236404.4
8	lnc-KIAA0020-1	chr9:2513053-2513157	l_3727_chr9:2411588-2611526_ovary

No data

Variant related genes	Relation type
SP3	miRNA target sites
FBXW7	miRNA target sites

Extended variants
information (count: 989 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4559295	chr9:2495675-2495676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117219373	chr9:2495679-2495680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551742981	chr9:2495692-2495693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs875587	chr9:2495694-2495695	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs148261684	chr9:2495728-2495729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553413061	chr9:2495738-2495739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375520388	chr9:2495770-2495771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369625939	chr9:2495785-2495786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73376842	chr9:2495827-2495828	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1009137	chr9:2495838-2495839	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554141882	chr9:2495840-2495841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555684568	chr9:2495863-2495864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1571812	chr9:2495870-2495871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557834986	chr9:2495913-2495914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368959483	chr9:2495914-2495915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1002396	chr9:2495917-2495918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539863481	chr9:2495926-2495927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545586409	chr9:2495987-2495988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1571813	chr9:2496009-2496010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573660705	chr9:2496010-2496011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576238353	chr9:2496060-2496061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562665176	chr9:2496061-2496062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370625544	chr9:2496071-2496072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531581024	chr9:2496086-2496087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551677204	chr9:2496098-2496099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565209841	chr9:2496119-2496120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533321631	chr9:2496123-2496124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546699723	chr9:2496148-2496149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566910425	chr9:2496168-2496169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535585341	chr9:2496171-2496172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191820119	chr9:2496193-2496194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569088029	chr9:2496277-2496278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75557562	chr9:2496283-2496284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557995244	chr9:2496293-2496294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78917066	chr9:2496294-2496295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561489295	chr9:2496306-2496307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373249997	chr9:2496307-2496308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4740682	chr9:2496315-2496316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541079773	chr9:2496331-2496332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4740683	chr9:2496352-2496353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs872256	chr9:2496480-2496481	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141373551	chr9:2496487-2496488	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs376684380	chr9:2496490-2496491	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs145593432	chr9:2496502-2496503	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs138010163	chr9:2496511-2496512	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs200324938	chr9:2496521-2496522	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs549613056	chr9:2496562-2496563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527594095	chr9:2496565-2496566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs872257	chr9:2496567-2496568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142605520	chr9:2496636-2496637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2487400-2533400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:2493000-2496000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:2493000-2496400	Enhancers	Fetal Heart	heart
4	chr9:2493000-2496800	Enhancers	Fetal Lung	lung
5	chr9:2493000-2496800	Enhancers	Stomach Smooth Muscle	stomach
6	chr9:2493000-2498000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:2493200-2497200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr9:2493400-2529000	Weak transcription	Pancreas	Pancrea
9	chr9:2493800-2497400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:2494000-2495800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:2494000-2495800	Weak transcription	Psoas Muscle	Psoas
12	chr9:2494400-2495800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:2494400-2496000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr9:2494800-2496000	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:2494800-2496000	Weak transcription	Fetal Stomach	stomach
16	chr9:2494800-2514000	Weak transcription	Ovary	ovary
17	chr9:2495000-2496200	Enhancers	Right Ventricle	heart
18	chr9:2495200-2520200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:2495600-2495800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:2495600-2496200	Enhancers	Lung	lung
21	chr9:2495600-2496400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:2495600-2496400	Enhancers	Left Ventricle	heart
23	chr9:2495600-2496400	Enhancers	Right Atrium	heart
24	chr9:2495600-2496400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:2495600-2497800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:2495800-2496400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:2495800-2496400	Enhancers	Fetal Muscle Trunk	muscle
28	chr9:2495800-2496400	Enhancers	Psoas Muscle	Psoas
29	chr9:2495800-2502600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:2496000-2496400	Enhancers	Fetal Muscle Leg	muscle
31	chr9:2496000-2496800	Enhancers	Fetal Stomach	stomach
32	chr9:2496000-2505400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:2496200-2498000	Weak transcription	Right Ventricle	heart
34	chr9:2496400-2496800	Weak transcription	Fetal Heart	heart
35	chr9:2496400-2497200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:2496400-2497800	Weak transcription	Left Ventricle	heart
37	chr9:2496400-2498800	Weak transcription	Psoas Muscle	Psoas
38	chr9:2496400-2503800	Weak transcription	Right Atrium	heart
39	chr9:2496800-2497600	Enhancers	Fetal Heart	heart
40	chr9:2496800-2500600	Weak transcription	Fetal Lung	lung
41	chr9:2496800-2500600	Weak transcription	Fetal Stomach	stomach
42	chr9:2497200-2498200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:2497400-2497800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:2497600-2500800	Weak transcription	Fetal Heart	heart
45	chr9:2497800-2498200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:2497800-2498200	Enhancers	Left Ventricle	heart
47	chr9:2498000-2498200	Enhancers	Right Ventricle	heart
48	chr9:2498200-2502000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:2498200-2506400	Weak transcription	Left Ventricle	heart
50	chr9:2498800-2499000	Enhancers	Psoas Muscle	Psoas

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