Variant report

Variant	nsv818679
Chromosome Location	chr9:6763072-6788085
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:6766833..6770674-chr9:6780008..6783723,3	K562	blood:
2	chr9:6756506..6759336-chr9:6761694..6766158,6	MCF-7	breast:
3	chr9:6680103..6682666-chr9:6784102..6786978,2	K562	blood:
4	chr9:6757988..6759532-chr9:6768470..6771009,2	K562	blood:
5	chr9:6765179..6766927-chr9:6770237..6771845,2	K562	blood:
6	chr9:6757388..6759261-chr9:6764601..6766785,2	MCF-7	breast:
7	chr9:6766833..6770674-chr9:6780008..6783723,3	K562	blood:
8	chr9:6757021..6759532-chr9:6768470..6771017,3	K562	blood:
9	chr9:6765179..6766927-chr9:6770237..6771845,2	K562	blood:
10	chr9:6706468..6709007-chr9:6764056..6766511,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UHRF2-1	chr9:6785601-6785929	ENSG00000236563.1
2	lnc-UHRF2-1	chr9:6780333-6780490	ENSG00000236563.1

No data

Variant related genes	Relation type
ENSG00000107077	chromatin interactions

Extended variants
information (count: 1342 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12001316	chr9:6763072-6763073	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544230539	chr9:6763086-6763087	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543873538	chr9:6763093-6763094	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184265172	chr9:6763104-6763105	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140130399	chr9:6763120-6763121	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372381345	chr9:6763149-6763150	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13290778	chr9:6763162-6763163	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547570264	chr9:6763167-6763168	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559250567	chr9:6763173-6763174	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530474257	chr9:6763209-6763210	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190427411	chr9:6763247-6763248	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76688780	chr9:6763268-6763269	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142247837	chr9:6763277-6763278	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530509095	chr9:6763283-6763284	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370918403	chr9:6763293-6763294	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367625970	chr9:6763306-6763307	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528496245	chr9:6763316-6763317	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181238498	chr9:6763324-6763325	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144562579	chr9:6763331-6763332	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186335965	chr9:6763350-6763351	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145638093	chr9:6763354-6763355	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149126657	chr9:6763355-6763356	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538974664	chr9:6763409-6763410	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377210241	chr9:6763454-6763455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557226020	chr9:6763462-6763463	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200230705	chr9:6763463-6763464	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386732153	chr9:6763466-6763467	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148650645	chr9:6763467-6763468	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199692928	chr9:6763468-6763469	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563664052	chr9:6763469-6763470	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191191024	chr9:6763484-6763485	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542619166	chr9:6763499-6763500	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554618888	chr9:6763540-6763541	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552273782	chr9:6763555-6763556	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558004391	chr9:6763573-6763574	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573303838	chr9:6763592-6763593	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540358243	chr9:6763593-6763594	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559530464	chr9:6763594-6763595	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533160644	chr9:6763600-6763601	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117818331	chr9:6763601-6763602	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369711984	chr9:6763754-6763755	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563585307	chr9:6763768-6763769	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546557885	chr9:6763770-6763771	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564924260	chr9:6763787-6763788	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532696154	chr9:6763788-6763789	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143250580	chr9:6763800-6763801	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113907297	chr9:6763838-6763839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200271833	chr9:6763853-6763854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528223591	chr9:6763881-6763882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546356432	chr9:6763882-6763883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6759000-6763200	Weak transcription	Spleen	Spleen
2	chr9:6759200-6763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:6759200-6763800	Weak transcription	Lung	lung
4	chr9:6759400-6767400	Weak transcription	Gastric	stomach
5	chr9:6759600-6763200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:6759600-6763200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:6759600-6763200	Weak transcription	Thymus	Thymus
8	chr9:6759600-6764000	Weak transcription	Fetal Heart	heart
9	chr9:6759600-6764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:6759600-6764400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:6759600-6764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:6759600-6764600	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:6759600-6764800	Weak transcription	Small Intestine	intestine
14	chr9:6759600-6765800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:6759600-6766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr9:6759600-6769200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:6759600-6782200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:6759800-6764000	Weak transcription	A549	lung
19	chr9:6759800-6764400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:6759800-6766800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:6759800-6771800	Weak transcription	Ovary	ovary
22	chr9:6759800-6778800	Weak transcription	Psoas Muscle	Psoas
23	chr9:6759800-6780000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:6759800-6782800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr9:6760000-6763200	Weak transcription	Fetal Thymus	thymus
26	chr9:6760000-6774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:6760200-6763200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:6760200-6763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:6760200-6763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:6760200-6763800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:6760200-6764200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:6760200-6764400	Weak transcription	Brain Anterior Caudate	brain
33	chr9:6760200-6764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:6760200-6764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:6760400-6763200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:6760400-6763200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:6760400-6763200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:6760400-6763200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:6760400-6763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:6760400-6763200	Weak transcription	Fetal Intestine Small	intestine
41	chr9:6760400-6763200	Weak transcription	Dnd41	blood
42	chr9:6760400-6764000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:6760400-6764200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:6760400-6764400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:6760400-6764400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:6760400-6764400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr9:6760400-6764800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:6760400-6765000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr9:6760400-6765000	Weak transcription	Right Ventricle	heart
50	chr9:6761000-6763200	Weak transcription	Primary T cells from cord blood	blood

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