Variant report

Variant	esv2761491
Chromosome Location	chr9:9139951-9222892
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	chr9:9179702..9181500-chr9:9182795..9185230,2	K562	blood:
2	chr9:9179702..9181500-chr9:9182795..9185230,2	K562	blood:

Extended variants
information (count: 1404 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56322741	chr9:9142641-9142642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560565232	chr9:9142748-9142749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374094263	chr9:9142776-9142777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527521397	chr9:9142792-9142793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs957155	chr9:9142828-9142829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561374076	chr9:9142841-9142842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145039250	chr9:9142849-9142850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182894723	chr9:9142854-9142855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112077072	chr9:9142874-9142875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74618005	chr9:9142903-9142904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535063643	chr9:9142907-9142908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553501138	chr9:9142912-9142913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76326395	chr9:9142915-9142916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570012475	chr9:9142952-9142953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76297531	chr9:9151007-9151008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569191825	chr9:9151047-9151048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376351711	chr9:9151114-9151115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189579024	chr9:9151170-9151171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150104988	chr9:9151171-9151172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138471716	chr9:9151187-9151188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531063937	chr9:9151216-9151217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549118650	chr9:9151224-9151225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76072583	chr9:9151241-9151242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370156821	chr9:9151245-9151246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528599369	chr9:9151246-9151247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200847545	chr9:9151254-9151255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7861959	chr9:9151280-9151281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs62529506	chr9:9151355-9151356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs180766035	chr9:9151370-9151371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111846651	chr9:9151384-9151385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141483212	chr9:9151422-9151423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569174697	chr9:9151433-9151434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536503958	chr9:9151437-9151438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554281490	chr9:9151444-9151445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566444774	chr9:9151445-9151446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370610345	chr9:9151449-9151450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183824235	chr9:9151548-9151549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188488591	chr9:9151564-9151565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545201633	chr9:9151590-9151591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146181902	chr9:9151591-9151592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575865048	chr9:9151610-9151611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543277451	chr9:9151616-9151617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181336180	chr9:9151633-9151634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12003392	chr9:9151640-9151641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76683167	chr9:9151666-9151667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565373551	chr9:9151689-9151690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115632447	chr9:9151716-9151717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550803078	chr9:9151721-9151722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186511984	chr9:9151725-9151726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs137905582	chr9:9151732-9151733	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9142600-9143000	Enhancers	Fetal Brain Male	brain
2	chr9:9151000-9151400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:9151000-9151600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:9151200-9151800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:9151600-9152000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:9153800-9154200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:9154000-9154800	Enhancers	Dnd41	blood
8	chr9:9162000-9162600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:9168200-9168400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:9168600-9169600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:9169600-9171600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:9169800-9170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:9169800-9170400	Enhancers	Brain Hippocampus Middle	brain
14	chr9:9170200-9170400	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:9170200-9170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:9170200-9171200	Enhancers	Brain Germinal Matrix	brain
17	chr9:9170400-9170600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:9170400-9170600	Active TSS	Brain Hippocampus Middle	brain
19	chr9:9170400-9170600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:9170400-9170600	Enhancers	Brain Substantia Nigra	brain
21	chr9:9170400-9171000	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr9:9170400-9171200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:9170600-9170800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:9170600-9170800	Enhancers	Dnd41	blood
25	chr9:9170600-9171000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr9:9170600-9171000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr9:9170600-9171000	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr9:9170600-9171200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:9170800-9171000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:9170800-9171200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:9170800-9171200	Enhancers	Brain Angular Gyrus	brain
32	chr9:9170800-9171200	Active TSS	Brain Anterior Caudate	brain
33	chr9:9170800-9171200	Enhancers	Fetal Lung	lung
34	chr9:9170800-9171400	Flanking Active TSS	Dnd41	blood
35	chr9:9171000-9171200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:9171000-9171200	Active TSS	Brain Cingulate Gyrus	brain
37	chr9:9171000-9171200	Active TSS	Brain Hippocampus Middle	brain
38	chr9:9171000-9171200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr9:9171200-9171400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:9171200-9174600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:9171400-9172200	Enhancers	Dnd41	blood
42	chr9:9173000-9173600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr9:9177600-9179600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:9177800-9179000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:9179200-9179600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:9179400-9179600	Enhancers	Fetal Stomach	stomach
47	chr9:9179800-9183800	Weak transcription	Fetal Stomach	stomach
48	chr9:9181800-9182600	Enhancers	Fetal Lung	lung
49	chr9:9182600-9186000	Weak transcription	Fetal Lung	lung
50	chr9:9183800-9184400	Enhancers	Fetal Stomach	stomach

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