Variant report

Variant	nsv892311
Chromosome Location	chr9:10226620-10265282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
2	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
3	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:

Extended variants
information (count: 1946 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1946 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1322136	chr9:10226620-10226621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62538655	chr9:10226650-10226651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188463268	chr9:10226684-10226685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529680949	chr9:10226691-10226692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546544869	chr9:10226693-10226694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114276328	chr9:10226705-10226706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192122482	chr9:10226731-10226732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558377917	chr9:10226736-10226737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568702679	chr9:10226812-10226813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184678805	chr9:10226828-10226829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537775825	chr9:10226833-10226834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189515373	chr9:10226854-10226855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554463967	chr9:10226868-10226869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549246141	chr9:10226896-10226897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568449326	chr9:10226900-10226901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533949470	chr9:10226920-10226921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554086381	chr9:10226926-10226927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534334229	chr9:10226927-10226928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17621358	chr9:10226959-10226960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62538656	chr9:10226983-10226984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73398358	chr9:10226989-10226990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191204743	chr9:10226996-10226997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372730322	chr9:10226997-10226998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73398359	chr9:10227056-10227057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs16925550	chr9:10227095-10227096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183751765	chr9:10227108-10227109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546282916	chr9:10227143-10227144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560091490	chr9:10227179-10227180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16925554	chr9:10227202-10227203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551841557	chr9:10227211-10227212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568583376	chr9:10227224-10227225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537664379	chr9:10227274-10227275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547940771	chr9:10227332-10227333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189236350	chr9:10227346-10227347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534087575	chr9:10227362-10227363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553917064	chr9:10227404-10227405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10809037	chr9:10227464-10227465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539965529	chr9:10227529-10227530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556718147	chr9:10227545-10227546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113267626	chr9:10227580-10227581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181177460	chr9:10227606-10227607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139036107	chr9:10227633-10227634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140726239	chr9:10227639-10227640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572697341	chr9:10227676-10227677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150448719	chr9:10227700-10227701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559927796	chr9:10227723-10227724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532154738	chr9:10227728-10227729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561985925	chr9:10227760-10227761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138274374	chr9:10227796-10227797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75062422	chr9:10227806-10227807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Glioblastoma multiforme	21080181	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
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
Intellectual disability	22102821	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
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	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
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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10225800-10232800	Weak transcription	Fetal Heart	heart
2	chr9:10227000-10227600	Enhancers	NHEK	skin
3	chr9:10227400-10228600	Enhancers	Stomach Mucosa	stomach
4	chr9:10230400-10230600	Enhancers	Stomach Mucosa	stomach
5	chr9:10231400-10234200	Enhancers	Fetal Brain Male	brain
6	chr9:10231800-10234000	Enhancers	Fetal Brain Female	brain
7	chr9:10232000-10233400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:10232000-10233400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:10232200-10233200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:10232200-10233200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr9:10232400-10233400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:10232400-10233600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:10232400-10233600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:10232400-10234000	Enhancers	Brain Germinal Matrix	brain
15	chr9:10232600-10233000	Enhancers	Brain Hippocampus Middle	brain
16	chr9:10232600-10233200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:10232600-10233200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:10232600-10233400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:10232600-10233400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:10232800-10233200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:10232800-10233200	Enhancers	Fetal Heart	heart
22	chr9:10232800-10233400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:10233000-10233400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr9:10233000-10233400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr9:10233200-10238000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:10233400-10239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:10234000-10235400	Weak transcription	Fetal Brain Female	brain
28	chr9:10234200-10235200	Weak transcription	Fetal Brain Male	brain
29	chr9:10235200-10236400	Enhancers	Fetal Brain Male	brain
30	chr9:10235400-10236600	Enhancers	Fetal Brain Female	brain
31	chr9:10237600-10237800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:10237800-10242400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:10238000-10238200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:10239400-10239800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:10240200-10240400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:10240200-10240600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:10242000-10242200	Enhancers	Fetal Heart	heart
38	chr9:10242200-10244200	Weak transcription	Fetal Heart	heart
39	chr9:10242400-10243400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:10244200-10245000	Enhancers	Fetal Heart	heart
41	chr9:10247400-10248000	Enhancers	Fetal Lung	lung
42	chr9:10248000-10250200	Weak transcription	Fetal Lung	lung
43	chr9:10250200-10250600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:10250200-10250600	Enhancers	Fetal Lung	lung
45	chr9:10250400-10250600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:10250400-10252000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:10250600-10251200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:10250600-10251600	Weak transcription	Fetal Lung	lung
49	chr9:10251200-10251800	Enhancers	Fetal Heart	heart
50	chr9:10251200-10252400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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