Variant report

Variant	nsv968562
Chromosome Location	chr9:2772588-2780812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2776529..2778337-chr9:2809907..2812711,2	K562	blood:
2	chr9:2767181..2768946-chr9:2770729..2772819,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFX3-3	chr9:2779834-2780490	NONHSAT130010

Extended variants
information (count: 421 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192625372	chr9:2772627-2772628	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185013451	chr9:2772675-2772676	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78918831	chr9:2772721-2772722	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556509575	chr9:2772745-2772746	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201315145	chr9:2772748-2772749	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576886258	chr9:2772761-2772762	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545537167	chr9:2772770-2772771	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs189635226	chr9:2772800-2772801	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528319630	chr9:2772810-2772811	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561622634	chr9:2772813-2772814	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542033981	chr9:2772816-2772817	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181696228	chr9:2772825-2772826	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551759818	chr9:2772830-2772831	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575413995	chr9:2772874-2772875	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201640913	chr9:2772878-2772879	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550222392	chr9:2772884-2772885	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569916915	chr9:2772935-2772936	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79107569	chr9:2772939-2772940	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186101640	chr9:2772971-2772972	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189306571	chr9:2773014-2773015	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182051865	chr9:2773022-2773023	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149251555	chr9:2773095-2773096	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185303051	chr9:2773096-2773097	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191140771	chr9:2773099-2773100	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556923884	chr9:2773110-2773111	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144822309	chr9:2773121-2773122	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374901540	chr9:2773173-2773174	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539412202	chr9:2773186-2773187	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552831260	chr9:2773195-2773196	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572962127	chr9:2773203-2773204	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148588814	chr9:2773240-2773241	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561839295	chr9:2773251-2773252	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541595993	chr9:2773273-2773274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73390743	chr9:2773289-2773290	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544479116	chr9:2773301-2773302	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563705909	chr9:2773347-2773348	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181228338	chr9:2773369-2773370	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369237119	chr9:2773373-2773374	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552534650	chr9:2773397-2773398	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115126407	chr9:2773433-2773434	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528536617	chr9:2773440-2773441	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186370666	chr9:2773464-2773465	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548388748	chr9:2773487-2773488	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533637926	chr9:2773503-2773504	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373240984	chr9:2773509-2773510	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537350078	chr9:2773512-2773513	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551034973	chr9:2773517-2773518	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571112198	chr9:2773520-2773521	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539094172	chr9:2773527-2773528	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141919201	chr9:2773530-2773531	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
2	chr9:2737200-2777000	Weak transcription	Esophagus	oesophagus
3	chr9:2746400-2772800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:2746800-2773200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:2752200-2777000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:2759400-2773000	Weak transcription	Fetal Brain Male	brain
7	chr9:2759600-2776800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:2760200-2777000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:2760600-2773000	Weak transcription	Psoas Muscle	Psoas
10	chr9:2763000-2772800	Weak transcription	Fetal Kidney	kidney
11	chr9:2764200-2775400	Weak transcription	Thymus	Thymus
12	chr9:2764800-2774200	Weak transcription	Brain Substantia Nigra	brain
13	chr9:2765800-2772800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:2765800-2791200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:2766000-2773000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr9:2766000-2774600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:2766000-2775800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:2766000-2777000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:2766000-2777000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:2766200-2772800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:2766800-2773200	Weak transcription	Brain Angular Gyrus	brain
22	chr9:2767800-2773000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:2767800-2773200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:2767800-2775600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:2768000-2772800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:2768000-2779200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:2768200-2782600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:2768400-2773200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr9:2768400-2773600	Strong transcription	Primary T cells from cord blood	blood
30	chr9:2768400-2774400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:2768400-2783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:2768600-2772800	Strong transcription	HSMM	muscle
33	chr9:2768600-2773200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr9:2768600-2773800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr9:2768800-2772800	Weak transcription	Pancreas	Pancrea
36	chr9:2768800-2777600	Weak transcription	Spleen	Spleen
37	chr9:2769000-2773000	Strong transcription	A549	lung
38	chr9:2769000-2773600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr9:2769800-2772800	Weak transcription	NHLF	lung
40	chr9:2769800-2775800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:2769800-2777600	Weak transcription	Small Intestine	intestine
42	chr9:2770000-2772800	Weak transcription	Left Ventricle	heart
43	chr9:2770000-2773000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:2770000-2773000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr9:2770000-2777600	Weak transcription	Right Ventricle	heart
46	chr9:2770200-2772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:2770200-2772800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:2770200-2772800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
49	chr9:2770200-2772800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:2770200-2772800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links