Variant report

Variant	nsv614950
Chromosome Location	chr9:101345778-101362833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101357066..101358707-chr9:101361271..101363344,2	MCF-7	breast:
2	chr9:101348020..101348980-chr9:101537926..101538570,2	MCF-7	breast:
3	chr9:101348915..101351128-chr9:101353321..101355170,2	K562	blood:
4	chr9:101345246..101347632-chr9:101356201..101357934,2	K562	blood:
5	chr9:101348954..101351869-chr9:101360452..101363029,2	MCF-7	breast:
6	chr9:101357716..101359633-chr9:101366066..101368066,2	MCF-7	breast:
7	chr9:101340573..101343071-chr9:101347948..101351619,3	MCF-7	breast:
8	chr9:101357111..101359289-chr9:101361878..101364554,2	K562	blood:
9	chr9:101348915..101351128-chr9:101353321..101355170,2	K562	blood:
10	chr9:101334595..101337716-chr9:101344699..101348746,4	MCF-7	breast:
11	chr9:101357019..101358611-chr9:101362189..101364554,2	K562	blood:
12	chr9:101345246..101347632-chr9:101356201..101357934,2	K562	blood:
13	chr9:101348954..101351869-chr9:101360452..101363029,2	MCF-7	breast:
14	chr9:101357019..101358611-chr9:101362189..101364554,2	K562	blood:
15	chr9:101339857..101342446-chr9:101344383..101346265,2	K562	blood:
16	chr9:101337939..101341594-chr9:101346528..101349148,3	K562	blood:
17	chr9:101326856..101330632-chr9:101345515..101347959,3	MCF-7	breast:
18	chr9:101357066..101358707-chr9:101361271..101363344,2	MCF-7	breast:
19	chr9:101336462..101338082-chr9:101358424..101360399,2	K562	blood:
20	chr9:101357111..101359289-chr9:101361878..101364554,2	K562	blood:

No data

Extended variants
information (count: 665 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2778908	chr9:101345778-101345779	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182219714	chr9:101345789-101345790	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578065420	chr9:101345800-101345801	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553214104	chr9:101345825-101345826	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540324690	chr9:101345859-101345860	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560314179	chr9:101345878-101345879	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145592592	chr9:101345903-101345904	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369366955	chr9:101346007-101346008	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148460954	chr9:101346018-101346019	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77412307	chr9:101346107-101346108	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532011826	chr9:101346128-101346129	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375998826	chr9:101346153-101346154	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1167763	chr9:101346168-101346169	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564101408	chr9:101346267-101346268	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185241905	chr9:101346301-101346302	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546672655	chr9:101346316-101346317	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75383984	chr9:101346324-101346325	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35228818	chr9:101346354-101346355	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535616829	chr9:101346396-101346397	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549176772	chr9:101346415-101346416	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369380074	chr9:101346433-101346434	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75442259	chr9:101346440-101346441	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113382877	chr9:101346459-101346460	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7870213	chr9:101346466-101346467	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560115746	chr9:101346488-101346489	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577920001	chr9:101346532-101346533	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10123407	chr9:101346548-101346549	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190000444	chr9:101346553-101346554	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182666432	chr9:101346584-101346585	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542843798	chr9:101346622-101346623	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2779528	chr9:101346661-101346662	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7872671	chr9:101346691-101346692	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564127344	chr9:101346713-101346714	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185516557	chr9:101346728-101346729	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1186021	chr9:101346757-101346758	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201805637	chr9:101346776-101346777	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532916230	chr9:101346886-101346887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200111086	chr9:101347057-101347058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142635147	chr9:101347072-101347073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528980914	chr9:101347089-101347090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549238095	chr9:101347092-101347093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554336953	chr9:101347093-101347094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569027781	chr9:101347130-101347131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531507593	chr9:101347145-101347146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191220333	chr9:101347146-101347147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533282728	chr9:101347188-101347189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540386603	chr9:101347202-101347203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73494498	chr9:101347208-101347209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12337255	chr9:101347219-101347220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs544493780	chr9:101347254-101347255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101332800-101355600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:101345600-101346600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:101345600-101346800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:101345600-101347400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:101345800-101346800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:101345800-101347000	Enhancers	GM12878-XiMat	blood
7	chr9:101346000-101347200	Enhancers	HUVEC	blood vessel
8	chr9:101346200-101346800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:101346200-101347400	Enhancers	Fetal Brain Male	brain
10	chr9:101346200-101347400	Enhancers	K562	blood
11	chr9:101346400-101347200	Enhancers	Fetal Brain Female	brain
12	chr9:101347200-101358800	Weak transcription	Fetal Brain Female	brain
13	chr9:101347400-101351200	Weak transcription	Fetal Brain Male	brain
14	chr9:101351200-101351600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:101351200-101353400	Enhancers	Fetal Brain Male	brain
16	chr9:101351600-101355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:101351600-101365800	Weak transcription	Right Atrium	heart
18	chr9:101352000-101353000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:101352400-101352800	Enhancers	Brain Germinal Matrix	brain
20	chr9:101353000-101355600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:101353400-101356600	Weak transcription	Fetal Brain Male	brain
22	chr9:101353600-101353800	Enhancers	Lung	lung
23	chr9:101354800-101355600	Enhancers	Brain Angular Gyrus	brain
24	chr9:101355400-101356200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:101355600-101356000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:101355600-101356200	Weak transcription	Brain Angular Gyrus	brain
27	chr9:101355600-101356600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:101355800-101356000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:101356000-101356400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:101356000-101357200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:101356200-101356400	Enhancers	Brain Angular Gyrus	brain
32	chr9:101356400-101357600	Enhancers	Duodenum Mucosa	Duodenum
33	chr9:101356400-101358000	Enhancers	Fetal Intestine Small	intestine
34	chr9:101356400-101362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:101356400-101363000	Weak transcription	Brain Angular Gyrus	brain
36	chr9:101356600-101358000	Enhancers	Fetal Intestine Large	intestine
37	chr9:101356600-101359000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr9:101356600-101360000	Enhancers	Fetal Brain Male	brain
39	chr9:101357200-101357800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:101357400-101357600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:101357800-101358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:101357800-101359000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:101358000-101360000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:101358200-101359200	Enhancers	Pancreas	Pancrea
45	chr9:101358800-101359800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:101358800-101360000	Enhancers	Fetal Brain Female	brain
47	chr9:101359000-101359400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:101359000-101359400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:101359000-101359400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:101359000-101360000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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