Variant report

Variant	nsv524069
Chromosome Location	chr9:6837912-6880263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6845574..6847293-chr9:6858590..6860659,2	K562	blood:
2	chr9:6876130..6878078-chr9:6891371..6893102,2	K562	blood:
3	chr9:6842488..6845236-chr9:6852172..6854079,2	MCF-7	breast:
4	chr9:6845574..6847293-chr9:6858590..6860659,2	K562	blood:
5	chr9:6842488..6845236-chr9:6852172..6854079,2	MCF-7	breast:
6	chr9:6831771..6833427-chr9:6836426..6839172,2	K562	blood:

Extended variants
information (count: 2385 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2385 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6477115	chr9:6837912-6837913	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544287364	chr9:6837971-6837972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527365561	chr9:6838103-6838104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561300574	chr9:6838136-6838137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10815470	chr9:6838181-6838182	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138781564	chr9:6838182-6838183	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537860053	chr9:6838186-6838187	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10739111	chr9:6838191-6838192	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568734872	chr9:6838217-6838218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142815182	chr9:6838226-6838227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374357280	chr9:6838269-6838270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182117632	chr9:6838296-6838297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373076245	chr9:6838309-6838310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546288722	chr9:6838310-6838311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144580912	chr9:6838329-6838330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148490331	chr9:6838338-6838339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12553351	chr9:6838348-6838349	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551599418	chr9:6838362-6838363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111311921	chr9:6838388-6838389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561987396	chr9:6838395-6838396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529923819	chr9:6838421-6838422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541751107	chr9:6838425-6838426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145752674	chr9:6838451-6838452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4345620	chr9:6838464-6838465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186827095	chr9:6838490-6838491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527498838	chr9:6838527-6838528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551817239	chr9:6838540-6838541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10733530	chr9:6838545-6838546	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531354910	chr9:6838570-6838571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190864408	chr9:6838577-6838578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142260332	chr9:6838579-6838580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150836819	chr9:6838599-6838600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534891905	chr9:6838644-6838645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548129148	chr9:6838655-6838656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139609136	chr9:6838688-6838689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540046889	chr9:6838703-6838704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199558511	chr9:6838717-6838718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113149865	chr9:6838719-6838720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183902160	chr9:6838720-6838721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144249900	chr9:6838726-6838727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537188694	chr9:6838745-6838746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200739481	chr9:6838749-6838750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535825266	chr9:6838759-6838760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553288872	chr9:6838760-6838761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115764068	chr9:6838809-6838810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188794209	chr9:6838811-6838812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146577975	chr9:6838826-6838827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72701434	chr9:6838832-6838833	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141332401	chr9:6838875-6838876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149834263	chr9:6838896-6838897	Weak transcription Strong transcription Enhancers	n/a	n/a	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
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6795000-6863800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr9:6795400-6849600	Weak transcription	HMEC	breast
3	chr9:6814600-6845400	Weak transcription	Fetal Brain Male	brain
4	chr9:6815400-6852000	Weak transcription	NHDF-Ad	bronchial
5	chr9:6816000-6856000	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:6818800-6856000	Weak transcription	Psoas Muscle	Psoas
7	chr9:6819800-6853400	Weak transcription	Small Intestine	intestine
8	chr9:6820400-6845200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:6824200-6849200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr9:6824200-6849600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:6824200-6860000	Weak transcription	Hela-S3	cervix
12	chr9:6824400-6892000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:6825400-6849800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:6826400-6841600	Weak transcription	NH-A	brain
15	chr9:6827800-6842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:6828000-6838200	Weak transcription	Fetal Lung	lung
17	chr9:6828000-6846000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:6829400-6838200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr9:6831800-6849200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:6832000-6847400	Weak transcription	HSMMtube	muscle
21	chr9:6832000-6852800	Weak transcription	K562	blood
22	chr9:6833800-6841400	Weak transcription	Osteobl	bone
23	chr9:6834000-6838000	Weak transcription	Fetal Heart	heart
24	chr9:6834000-6854800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:6835200-6845600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:6835200-6851200	Weak transcription	Placenta	Placenta
27	chr9:6835200-6851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:6835200-6851800	Weak transcription	NHLF	lung
29	chr9:6835200-6854600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:6835200-6863800	Weak transcription	Brain Anterior Caudate	brain
31	chr9:6835400-6838200	Weak transcription	Brain Angular Gyrus	brain
32	chr9:6835400-6838200	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:6835400-6838400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:6835400-6841600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:6835400-6841800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr9:6835400-6842000	Weak transcription	A549	lung
37	chr9:6835400-6842800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:6835400-6845000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:6835400-6845800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr9:6835400-6849400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr9:6835400-6849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:6835400-6849600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:6835400-6851600	Weak transcription	Fetal Brain Female	brain
44	chr9:6835400-6852200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr9:6835400-6855000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:6835400-6856400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:6835400-6863400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:6835400-6863400	Weak transcription	Ovary	ovary
49	chr9:6835400-6869200	Weak transcription	Right Ventricle	heart
50	chr9:6835400-6893200	Weak transcription	Colonic Mucosa	Colon

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