Variant report

Variant	nsv1021049
Chromosome Location	chr9:7192313-7288729
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:16)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
2	chr13:72439560..72440061-chr9:7288393..7288893,2	NB4	blood:
3	chr9:7198706..7201324-chr9:7202364..7204125,2	K562	blood:
4	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:
5	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
6	chr9:7193931..7197834-chr9:7198175..7201948,5	K562	blood:
7	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:
8	chr9:7093984..7094670-chr9:7259334..7260480,4	MCF-7	breast:
9	chr9:7052694..7053246-chr9:7259513..7260136,3	MCF-7	breast:
10	chr9:7052501..7053186-chr9:7233839..7234508,2	MCF-7	breast:
11	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
12	chr9:7094001..7094660-chr9:7234238..7234769,2	MCF-7	breast:
13	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
14	chr1:64982456..64983122-chr9:7222631..7223173,2	MCF-7	breast:
15	chr9:7193931..7197834-chr9:7198175..7201948,5	K562	blood:
16	chr9:7198706..7201324-chr9:7202364..7204125,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-4	chr9:7209772-7210156	NONHSAT130172
2	lnc-KDM4C-4	chr9:7208935-7208961	NONHSAT130172
3	lnc-KDM4C-4	chr9:7208936-7208961	XLOC_007277
4	lnc-KDM4C-3	chr9:7202734-7202875	XLOC_007276
5	lnc-KDM4C-4	chr9:7209783-7209962	XLOC_007277

No data

Variant related genes	Relation type
LASS2	miRNA target sites

Extended variants
information (count: 3878 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:3878 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2820917	chr9:7192313-7192314	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113600751	chr9:7192333-7192334	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535508675	chr9:7192355-7192356	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562763254	chr9:7192361-7192362	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150845179	chr9:7192399-7192400	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111639394	chr9:7192456-7192457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139643012	chr9:7192486-7192487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144391192	chr9:7192537-7192538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527420071	chr9:7192553-7192554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555362358	chr9:7192562-7192563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552217262	chr9:7192564-7192565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180973808	chr9:7192578-7192579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531294733	chr9:7192599-7192600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185963198	chr9:7192622-7192623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570341210	chr9:7192649-7192650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568458825	chr9:7192735-7192736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62532946	chr9:7192756-7192757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2011128	chr9:7192758-7192759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113688920	chr9:7192795-7192796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112510690	chr9:7192814-7192815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565901165	chr9:7192852-7192853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376250170	chr9:7192853-7192854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533869185	chr9:7192854-7192855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558184250	chr9:7192866-7192867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112018711	chr9:7192867-7192868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141352321	chr9:7192883-7192884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537494480	chr9:7192884-7192885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2104683	chr9:7192907-7192908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10116063	chr9:7192917-7192918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542132149	chr9:7192960-7192961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560407146	chr9:7192973-7192974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373999667	chr9:7192991-7192992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148816977	chr9:7192995-7192996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11791819	chr9:7193014-7193015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564244806	chr9:7193068-7193069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7035093	chr9:7193074-7193075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189516302	chr9:7193104-7193105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111633886	chr9:7193115-7193116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576229062	chr9:7193119-7193120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374046279	chr9:7193124-7193125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529558717	chr9:7193130-7193131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78930495	chr9:7193146-7193147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181781658	chr9:7193152-7193153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535789199	chr9:7193198-7193199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113324565	chr9:7193229-7193230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112025381	chr9:7193266-7193267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77092930	chr9:7193269-7193270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376152041	chr9:7193326-7193327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537127499	chr9:7193352-7193353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201254722	chr9:7193396-7193397	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7171200-7193000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:7191200-7196600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:7191600-7192400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:7191600-7192600	Enhancers	Adipose Nuclei	Adipose
5	chr9:7191600-7192600	Enhancers	Stomach Smooth Muscle	stomach
6	chr9:7191800-7192400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr9:7191800-7192600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:7191800-7192600	Enhancers	Rectal Smooth Muscle	rectum
9	chr9:7191800-7194200	Enhancers	Fetal Muscle Leg	muscle
10	chr9:7192000-7192400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:7192000-7192600	Enhancers	Psoas Muscle	Psoas
12	chr9:7192600-7201400	Weak transcription	Psoas Muscle	Psoas
13	chr9:7193200-7194200	Enhancers	Fetal Muscle Trunk	muscle
14	chr9:7196600-7197400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:7196800-7197600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:7197400-7200800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:7200800-7201000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:7201000-7201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:7201400-7201600	Enhancers	Psoas Muscle	Psoas
20	chr9:7201600-7201800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:7204600-7204800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:7204800-7206000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:7204800-7208800	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:7205200-7205400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:7205200-7205400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:7205400-7206200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:7205600-7206400	Enhancers	Fetal Heart	heart
28	chr9:7205800-7206000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr9:7206000-7206400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:7206200-7210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:7206400-7206600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:7206400-7207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:7206400-7212200	Weak transcription	Fetal Heart	heart
34	chr9:7207000-7209200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:7207400-7207600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:7207600-7208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:7208400-7208800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:7208600-7208800	Enhancers	Brain Substantia Nigra	brain
39	chr9:7208800-7209000	Enhancers	Brain Anterior Caudate	brain
40	chr9:7208800-7209000	Enhancers	Brain Germinal Matrix	brain
41	chr9:7208800-7209000	Enhancers	Fetal Brain Male	brain
42	chr9:7208800-7209400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr9:7208800-7209600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr9:7208800-7209800	Active TSS	Brain Hippocampus Middle	brain
45	chr9:7208800-7209800	Active TSS	Brain Substantia Nigra	brain
46	chr9:7208800-7212000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:7208800-7212600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:7209000-7209400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:7209000-7209400	Bivalent/Poised TSS	Fetal Lung	lung
50	chr9:7209000-7209400	Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links