Variant report

Variant	nsv892067
Chromosome Location	chr9:2416895-2515607
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:17)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
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	chr9:2472769..2475226-chr9:2476541..2478535,2	MCF-7	breast:
6	chr9:2469587..2470552-chr9:2495208..2496164,11	MCF-7	breast:
7	chr9:2469803..2470606-chr9:2495203..2496152,5	MCF-7	breast:
8	chr9:2496935..2498735-chr9:2499361..2500948,2	MCF-7	breast:
9	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
10	chr9:2486399..2488878-chr9:2490772..2493168,2	MCF-7	breast:
11	chr9:2486399..2488878-chr9:2490772..2493168,2	MCF-7	breast:
12	chr9:2472769..2475226-chr9:2476541..2478535,2	MCF-7	breast:
13	chr9:2469587..2470552-chr9:2495208..2496164,11	MCF-7	breast:
14	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
15	chr9:2469664..2470582-chr9:2495207..2496164,12	MCF-7	breast:
16	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
17	chr9:2469321..2470077-chr9:2662127..2662743,2	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2423837-2423844	NONHSAT129995
2	lnc-KIAA0020-1	chr9:2486316-2486612	l_3727_chr9:2411588-2611526_ovary
3	lnc-KIAA0020-1	chr9:2494061-2494105	ENSG00000236404
4	lnc-KIAA0020-1	chr9:2493075-2493180	ENSG00000236404.4
5	lnc-KIAA0020-1	chr9:2486116-2486306	l_3727_chr9:2411588-2611526_ovary
6	lnc-KIAA0020-1	chr9:2423860-2427978	NONHSAT129995
7	lnc-KIAA0020-1	chr9:2425397-2425540	ENSG00000236404.4
8	lnc-KIAA0020-1	chr9:2506411-2506540	ENSG00000236404
9	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404
10	lnc-KIAA0020-1	chr9:2506419-2506540	ENSG00000236404.4
11	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404.4
12	lnc-KIAA0020-1	chr9:2503280-2503403	ENSG00000236404
13	lnc-KIAA0020-1	chr9:2493073-2493180	ENSG00000236404
14	lnc-KIAA0020-1	chr9:2425393-2425545	ENSG00000236404
15	lnc-KIAA0020-1	chr9:2484180-2484336	l_3727_chr9:2411588-2611526_ovary
16	lnc-KIAA0020-1	chr9:2515538-2515717	l_3727_chr9:2411588-2611526_ovary
17	lnc-KIAA0020-1	chr9:2494180-2494302	ENSG00000236404.4
18	lnc-VLDLR-2	chr9:2429811-2429986	XLOC_007266
19	lnc-KIAA0020-1	chr9:2511903-2512046	l_3727_chr9:2411588-2611526_ovary
20	lnc-KIAA0020-1	chr9:2493270-2493403	l_3727_chr9:2411588-2611526_ovary
21	lnc-KIAA0020-1	chr9:2483075-2483418	l_3727_chr9:2411588-2611526_ovary
22	lnc-KIAA0020-1	chr9:2506359-2506540	ENSG00000236404
23	lnc-KIAA0020-1	chr9:2496359-2496540	l_3727_chr9:2411588-2611526_ovary
24	lnc-KIAA0020-1	chr9:2513053-2513157	l_3727_chr9:2411588-2611526_ovary

No data

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

Extended variants
information (count: 4979 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:4979 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2150831	chr9:2416895-2416896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74367339	chr9:2416911-2416912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149379270	chr9:2416915-2416916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79074223	chr9:2416931-2416932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530632660	chr9:2416940-2416941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550363287	chr9:2416943-2416944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551711980	chr9:2416952-2416953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570442054	chr9:2416954-2416955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532736964	chr9:2416970-2416971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546925277	chr9:2416972-2416973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184520603	chr9:2417030-2417031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12349250	chr9:2417033-2417034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189393925	chr9:2417080-2417081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148093267	chr9:2417121-2417122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141316481	chr9:2417138-2417139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557945474	chr9:2417142-2417143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116796792	chr9:2417179-2417180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540614827	chr9:2417186-2417187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369169126	chr9:2417190-2417191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146269068	chr9:2417192-2417193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542095491	chr9:2417197-2417198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532901932	chr9:2417206-2417207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561929252	chr9:2417254-2417255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16923666	chr9:2417307-2417308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544316066	chr9:2417337-2417338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75585674	chr9:2417345-2417346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138152124	chr9:2417398-2417399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181601356	chr9:2417417-2417418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75563935	chr9:2417445-2417446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529554934	chr9:2417467-2417468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140177144	chr9:2417480-2417481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77353334	chr9:2417499-2417500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10081766	chr9:2417514-2417515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538034553	chr9:2417519-2417520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185143251	chr9:2417556-2417557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189195418	chr9:2417565-2417566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139634980	chr9:2417600-2417601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181842711	chr9:2417614-2417615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10081723	chr9:2417698-2417699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186338325	chr9:2417700-2417701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191089978	chr9:2417705-2417706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10081725	chr9:2417707-2417708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10081767	chr9:2417726-2417727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142560841	chr9:2417748-2417749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544069208	chr9:2417790-2417791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11787580	chr9:2417808-2417809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577322213	chr9:2417809-2417810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10081768	chr9:2417843-2417844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559735478	chr9:2417849-2417850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528833759	chr9:2417869-2417870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2407800-2418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:2412000-2418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:2412200-2418800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:2412400-2417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:2412600-2420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:2412800-2418200	Weak transcription	Brain Substantia Nigra	brain
7	chr9:2412800-2418400	Weak transcription	Adipose Nuclei	Adipose
8	chr9:2412800-2418400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:2413000-2418200	Weak transcription	Brain Anterior Caudate	brain
10	chr9:2413000-2418200	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:2413000-2418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:2413000-2418400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:2413000-2418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:2413000-2418600	Weak transcription	Brain Angular Gyrus	brain
15	chr9:2413000-2420400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:2413200-2418400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:2413400-2418200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:2413400-2418400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:2413400-2418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:2413600-2417600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:2413800-2418000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:2413800-2418200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:2414000-2418400	Weak transcription	Fetal Stomach	stomach
24	chr9:2414400-2418800	Weak transcription	Fetal Lung	lung
25	chr9:2414600-2418800	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:2414800-2417600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:2414800-2417800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:2414800-2418600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:2415000-2417800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:2415000-2418200	Weak transcription	NH-A	brain
31	chr9:2415200-2426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:2415600-2418600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:2416000-2424400	Weak transcription	Pancreas	Pancrea
34	chr9:2416600-2423600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:2416800-2421200	Enhancers	Ovary	ovary
36	chr9:2417400-2429600	Weak transcription	Aorta	Aorta
37	chr9:2417600-2417800	Enhancers	Left Ventricle	heart
38	chr9:2417600-2419400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:2417600-2420000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:2417600-2420800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:2417800-2418400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:2417800-2418800	Weak transcription	Left Ventricle	heart
43	chr9:2417800-2419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:2417800-2419400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:2417800-2421200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:2418000-2418600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:2418000-2420400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr9:2418200-2418600	Enhancers	Brain Hippocampus Middle	brain
49	chr9:2418200-2419000	Enhancers	Brain Germinal Matrix	brain
50	chr9:2418200-2419000	Enhancers	Brain Inferior Temporal Lobe	brain

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