Variant report

Variant	nsv892194
Chromosome Location	chr9:7241270-7351360
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:7)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
2	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
3	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
4	chr9:7052694..7053246-chr9:7259513..7260136,3	MCF-7	breast:
5	chr9:7093984..7094670-chr9:7259334..7260480,4	MCF-7	breast:
6	chr13:72439560..72440061-chr9:7288393..7288893,2	NB4	blood:
7	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-6	chr9:7327926-7328132	XLOC_007278
2	lnc-KDM4C-6	chr9:7343265-7343465	XLOC_007278
3	lnc-KDM4C-6	chr9:7304600-7304683	XLOC_007278
4	lnc-C9orf123-9	chr9:7335933-7336064	l_3732_chr9:7334596-7336064_thyroid
5	lnc-C9orf123-9	chr9:7335540-7335590	l_3732_chr9:7334596-7336064_thyroid
6	lnc-C9orf123-9	chr9:7334597-7335051	l_3732_chr9:7334596-7336064_thyroid
7	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640
8	lnc-C9orf123-5	chr9:7344597-7345051	XLOC_007640

No data

Extended variants
information (count: 4770 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:4770 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16925635	chr9:7241270-7241271	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559571224	chr9:7241320-7241321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs182118375	chr9:7241337-7241338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376845809	chr9:7241363-7241364	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187832488	chr9:7241373-7241374	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540257188	chr9:7241385-7241386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117294222	chr9:7241390-7241391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551495690	chr9:7241412-7241413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569550421	chr9:7241488-7241489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372829046	chr9:7241504-7241505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560158862	chr9:7241512-7241513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113090369	chr9:7241563-7241564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59419779	chr9:7241572-7241573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148985985	chr9:7241600-7241601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190748913	chr9:7241601-7241602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142904163	chr9:7241624-7241625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146637967	chr9:7241629-7241630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577815696	chr9:7241637-7241638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538752139	chr9:7241688-7241689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546457122	chr9:7241700-7241701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182910929	chr9:7241705-7241706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575566032	chr9:7241737-7241738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542981243	chr9:7241738-7241739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201973501	chr9:7241745-7241746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188571717	chr9:7241750-7241751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531939902	chr9:7241775-7241776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141376084	chr9:7241817-7241818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541322423	chr9:7241832-7241833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201789407	chr9:7241838-7241839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527745080	chr9:7241869-7241870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533110429	chr9:7241884-7241885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193106710	chr9:7241900-7241901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117730383	chr9:7241932-7241933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145158751	chr9:7241941-7241942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530501918	chr9:7241975-7241976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184922088	chr9:7241986-7241987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567144671	chr9:7242004-7242005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528809223	chr9:7242019-7242020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546843630	chr9:7242023-7242024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571516343	chr9:7242051-7242052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538816010	chr9:7242059-7242060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111938144	chr9:7242068-7242069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140073832	chr9:7242084-7242085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370204407	chr9:7242186-7242187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150330147	chr9:7242194-7242195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554988757	chr9:7242195-7242196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570490431	chr9:7242311-7242312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139068644	chr9:7242318-7242319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541334312	chr9:7242328-7242329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149512771	chr9:7242350-7242351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7239000-7241400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr9:7239400-7241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:7239400-7242200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:7240800-7241400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr9:7240800-7241400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr9:7240800-7241400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:7240800-7241400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr9:7241000-7241800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:7241200-7241400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:7241200-7242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:7241200-7242000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:7241400-7241600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:7241400-7241600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr9:7241400-7241600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:7241400-7245400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:7241800-7242000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:7242200-7245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr9:7243400-7246000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:7243400-7246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:7243600-7243800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr9:7243800-7244200	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:7244200-7245600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:7245400-7245600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:7245600-7245800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:7245600-7246400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:7245600-7247200	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:7245800-7246200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:7245800-7246600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr9:7246000-7246600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:7246200-7246600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:7246400-7246600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:7246600-7246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:7246800-7247800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:7247000-7247400	Enhancers	NHDF-Ad	bronchial
35	chr9:7253200-7266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:7255600-7258400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:7258400-7258800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:7258400-7259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:7258600-7259600	Enhancers	Fetal Heart	heart
40	chr9:7258800-7260600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:7259000-7259400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:7259400-7261200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:7259600-7259800	Enhancers	Right Atrium	heart
44	chr9:7259600-7260000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:7260600-7261000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:7264400-7265200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:7264800-7265800	Enhancers	Fetal Brain Male	brain
48	chr9:7264800-7268600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr9:7265000-7265200	Enhancers	Fetal Kidney	kidney
50	chr9:7265000-7267800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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