Variant report

Variant	nsv522121
Chromosome Location	chr9:8865925-8870553
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	chr9:8868603..8871582-chr9:8873717..8875264,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10977327	chr9:8865925-8865926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538561734	chr9:8865949-8865950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114378522	chr9:8865979-8865980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568547331	chr9:8866024-8866025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536337006	chr9:8866064-8866065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187415644	chr9:8866090-8866091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572898582	chr9:8866095-8866096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541228169	chr9:8866125-8866126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142593369	chr9:8866154-8866155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117771320	chr9:8866205-8866206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189318762	chr9:8866217-8866218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181637846	chr9:8866223-8866224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543837496	chr9:8866244-8866245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530966466	chr9:8866329-8866330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563815782	chr9:8866363-8866364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114655202	chr9:8866371-8866372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561177661	chr9:8866427-8866428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555799789	chr9:8866438-8866439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111365395	chr9:8866444-8866445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574144100	chr9:8866445-8866446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144023994	chr9:8866450-8866451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80040457	chr9:8866466-8866467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571137011	chr9:8866491-8866492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552013235	chr9:8866517-8866518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115420657	chr9:8866527-8866528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185973940	chr9:8866529-8866530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550503700	chr9:8866549-8866550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559654007	chr9:8866587-8866588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148284300	chr9:8866596-8866597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72704333	chr9:8866618-8866619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554560813	chr9:8866627-8866628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566413296	chr9:8866634-8866635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190348597	chr9:8866646-8866647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553579489	chr9:8866677-8866678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578232833	chr9:8866689-8866690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199726909	chr9:8866753-8866754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571834988	chr9:8866771-8866772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79474785	chr9:8866777-8866778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34988254	chr9:8866783-8866784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398087132	chr9:8866790-8866791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397702284	chr9:8866791-8866792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557730634	chr9:8866933-8866934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369485661	chr9:8866938-8866939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575896346	chr9:8866952-8866953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542614041	chr9:8866967-8866968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565569582	chr9:8866968-8866969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142260086	chr9:8867004-8867005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141347070	chr9:8867144-8867145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550119152	chr9:8867148-8867149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150785748	chr9:8867151-8867152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8858800-8871400	Enhancers	Fetal Heart	heart
2	chr9:8859400-8870800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:8859600-8866400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:8860200-8867400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:8860800-8867200	Weak transcription	Brain Germinal Matrix	brain
6	chr9:8861200-8867400	Weak transcription	Fetal Brain Female	brain
7	chr9:8863000-8868200	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:8863400-8868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:8863400-8872000	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:8864000-8866000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:8864600-8868800	Weak transcription	Small Intestine	intestine
12	chr9:8864600-8870800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:8864800-8867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:8864800-8867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:8864800-8867000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:8864800-8867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:8864800-8867200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:8864800-8868600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:8864800-8868600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:8864800-8869400	Weak transcription	Aorta	Aorta
21	chr9:8864800-8869400	Weak transcription	Fetal Intestine Small	intestine
22	chr9:8864800-8870800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:8864800-8870800	Enhancers	Brain Anterior Caudate	brain
24	chr9:8865000-8866400	Weak transcription	Brain Hippocampus Middle	brain
25	chr9:8865000-8866800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:8865000-8866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:8865000-8867000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:8865000-8867200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:8865000-8867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:8865000-8868800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:8865000-8868800	Weak transcription	NH-A	brain
32	chr9:8865600-8867400	Weak transcription	Brain Angular Gyrus	brain
33	chr9:8865800-8866200	Weak transcription	Brain Substantia Nigra	brain
34	chr9:8865800-8870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:8866000-8866400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:8866200-8870800	Enhancers	Brain Substantia Nigra	brain
37	chr9:8866400-8866600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:8866400-8867200	Enhancers	Brain Hippocampus Middle	brain
39	chr9:8866400-8867800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:8866600-8868400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:8866800-8867600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:8866800-8870200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:8867000-8867600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:8867000-8867600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:8867000-8867800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr9:8867000-8868600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:8867200-8867600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:8867200-8867600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr9:8867200-8867600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:8867200-8868000	Enhancers	Brain Germinal Matrix	brain

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