Variant report

Variant	nsv1030904
Chromosome Location	chr9:8108480-8163549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:8106136..8108592-chr9:8119218..8121466,2	K562	blood:
2	chr9:8106136..8108592-chr9:8119218..8121466,2	K562	blood:
3	chr13:56158216..56158765-chr9:8154008..8154641,2	MCF-7	breast:

Extended variants
information (count: 1064 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1064 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147695722	chr9:8109252-8109253	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs577123544	chr9:8109281-8109282	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs140964268	chr9:8109298-8109299	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs561003772	chr9:8109304-8109305	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs529908627	chr9:8109361-8109362	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs544450566	chr9:8109374-8109375	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs150257247	chr9:8109426-8109427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74391635	chr9:8109445-8109446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549351884	chr9:8109505-8109506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561136894	chr9:8109511-8109512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532184049	chr9:8109524-8109525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191656537	chr9:8109536-8109537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78815519	chr9:8109543-8109544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538832192	chr9:8109588-8109589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550791836	chr9:8109589-8109590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568931659	chr9:8109591-8109592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73406328	chr9:8109626-8109627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116434355	chr9:8109664-8109665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138886977	chr9:8109690-8109691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566690823	chr9:8109692-8109693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12346254	chr9:8109693-8109694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs558873464	chr9:8109707-8109708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577236664	chr9:8109710-8109711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369425807	chr9:8109727-8109728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113761788	chr9:8109732-8109733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562583977	chr9:8109734-8109735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374174511	chr9:8109791-8109792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542761021	chr9:8109792-8109793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116295082	chr9:8109812-8109813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552193504	chr9:8109856-8109857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149439390	chr9:8109857-8109858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184380336	chr9:8109878-8109879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60829157	chr9:8109891-8109892	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78616582	chr9:8109895-8109896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569353978	chr9:8109949-8109950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370104434	chr9:8109983-8109984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189258827	chr9:8110003-8110004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193146044	chr9:8110023-8110024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115259810	chr9:8110025-8110026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533744656	chr9:8110040-8110041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185634873	chr9:8110049-8110050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570748978	chr9:8110052-8110053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145874527	chr9:8110071-8110072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556280057	chr9:8110100-8110101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574570123	chr9:8110103-8110104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543077268	chr9:8110111-8110112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554751091	chr9:8110119-8110120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377072641	chr9:8110129-8110130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571577918	chr9:8110174-8110175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573029764	chr9:8110178-8110179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8109200-8109400	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr9:8109200-8109600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:8109600-8109800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:8109600-8109800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:8109800-8110200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:8109800-8111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:8110200-8111000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:8110800-8111000	Bivalent/Poised TSS	Stomach Mucosa	stomach
9	chr9:8110800-8111200	Enhancers	Brain Hippocampus Middle	brain
10	chr9:8110800-8111200	Enhancers	Brain Substantia Nigra	brain
11	chr9:8111000-8111200	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr9:8111000-8112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:8111200-8112200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:8111200-8112200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:8111400-8112400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:8111400-8113200	Enhancers	Stomach Mucosa	stomach
17	chr9:8111600-8112200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:8111800-8112400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:8111800-8112600	Enhancers	Fetal Heart	heart
20	chr9:8113800-8114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:8114800-8115200	Enhancers	Dnd41	blood
22	chr9:8118200-8119000	Enhancers	Ovary	ovary
23	chr9:8118400-8118800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr9:8127800-8129000	Enhancers	Dnd41	blood
25	chr9:8130200-8130600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:8130400-8131000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr9:8133000-8133400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:8133000-8133800	Enhancers	Brain Germinal Matrix	brain
29	chr9:8133000-8134200	Enhancers	Brain Cingulate Gyrus	brain
30	chr9:8133000-8134800	Enhancers	Brain Substantia Nigra	brain
31	chr9:8133000-8135000	Enhancers	Brain Hippocampus Middle	brain
32	chr9:8133000-8135000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:8133200-8133400	Enhancers	Brain Angular Gyrus	brain
34	chr9:8133200-8133600	Enhancers	Ovary	ovary
35	chr9:8133400-8134200	Weak transcription	Brain Angular Gyrus	brain
36	chr9:8133600-8134800	Weak transcription	Ovary	ovary
37	chr9:8134200-8134600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:8134200-8135000	Enhancers	Brain Angular Gyrus	brain
39	chr9:8134400-8140600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:8134600-8135000	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:8134800-8135000	Enhancers	Ovary	ovary
42	chr9:8134800-8135200	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr9:8136000-8136800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr9:8136400-8137000	Enhancers	Colonic Mucosa	Colon
45	chr9:8138600-8141600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:8138600-8141600	Enhancers	Fetal Heart	heart
47	chr9:8138600-8141800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:8138800-8139600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr9:8138800-8139800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:8138800-8141400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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