Variant report

Variant	nsv6682
Chromosome Location	chr9:117984059-118000427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:117978231..117979736-chr9:117982363..117984599,2	MCF-7	breast:
2	chr9:117988130..117988677-chr9:118286316..118287411,4	MCF-7	breast:
3	chr9:117988097..117989116-chr9:118286127..118287416,14	MCF-7	breast:
4	chr9:117987514..117989164-chr9:117990636..117992722,2	K562	blood:
5	chr9:117987514..117989164-chr9:117990636..117992722,2	K562	blood:

Extended variants
information (count: 578 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141960382	chr9:117984091-117984092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548729209	chr9:117984093-117984094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576489165	chr9:117984108-117984109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531796242	chr9:117984148-117984149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562569167	chr9:117984161-117984162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534215328	chr9:117984242-117984243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543502729	chr9:117984263-117984264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554144816	chr9:117984293-117984294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571129432	chr9:117984302-117984303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539782238	chr9:117984307-117984308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556332475	chr9:117984309-117984310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576256064	chr9:117984318-117984319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541506658	chr9:117984349-117984350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146314699	chr9:117984360-117984361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12005044	chr9:117984448-117984449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181308698	chr9:117984457-117984458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564184063	chr9:117984504-117984505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576666877	chr9:117984514-117984515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139191490	chr9:117984592-117984593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371688893	chr9:117984621-117984622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185505670	chr9:117984634-117984635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189768267	chr9:117984649-117984650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149543577	chr9:117984660-117984661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183526435	chr9:117984667-117984668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144007753	chr9:117984678-117984679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148667966	chr9:117984728-117984729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10513266	chr9:117984768-117984769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547781418	chr9:117984784-117984785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369846543	chr9:117984790-117984791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10817729	chr9:117984815-117984816	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75748824	chr9:117984852-117984853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569879287	chr9:117984880-117984881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62578005	chr9:117984897-117984898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554996394	chr9:117984905-117984906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566097546	chr9:117984996-117984997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377056279	chr9:117985065-117985066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77600104	chr9:117985185-117985186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557731656	chr9:117985203-117985204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147797980	chr9:117985222-117985223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139605673	chr9:117985267-117985268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145021386	chr9:117985342-117985343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150941140	chr9:117985346-117985347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201473155	chr9:117985440-117985441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370060073	chr9:117985441-117985442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386415991	chr9:117985446-117985447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56364985	chr9:117985450-117985451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78257793	chr9:117985451-117985452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186327850	chr9:117985524-117985525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562002095	chr9:117985530-117985531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200266302	chr9:117985553-117985554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117976600-117985400	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:117976600-117987400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:117979800-117984200	Weak transcription	Aorta	Aorta
4	chr9:117980400-117984600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:117980800-117988800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:117981400-117988600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:117982800-117985400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:117983200-117984200	Weak transcription	Fetal Brain Female	brain
9	chr9:117983200-117985000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:117983200-117987400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:117983400-117986400	Weak transcription	Brain Germinal Matrix	brain
12	chr9:117983800-117984800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:117984200-117984400	Enhancers	Fetal Brain Female	brain
14	chr9:117984200-117984800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:117984400-117984800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr9:117984600-117985200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:117984800-117985000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:117985000-117986400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:117985000-118000600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:117985400-117986400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:117985400-117987800	Enhancers	Brain Hippocampus Middle	brain
22	chr9:117985800-117986000	Enhancers	HSMMtube	muscle
23	chr9:117986200-117987600	Enhancers	Brain Anterior Caudate	brain
24	chr9:117986400-117986600	Enhancers	Brain Germinal Matrix	brain
25	chr9:117986400-117987800	Enhancers	Brain Substantia Nigra	brain
26	chr9:117986600-117987000	Weak transcription	Brain Germinal Matrix	brain
27	chr9:117987000-117987400	Enhancers	Brain Germinal Matrix	brain
28	chr9:117987200-117988400	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:117987400-117987800	Enhancers	Brain Angular Gyrus	brain
30	chr9:117987400-117988400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:117987400-117988400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr9:117987600-117988000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr9:117988000-117988200	Enhancers	Brain Anterior Caudate	brain
34	chr9:117988400-117992800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:117988800-117997600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:117991600-117992000	Enhancers	NHEK	skin
37	chr9:117992000-117992200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:117992000-117995200	Weak transcription	NHEK	skin
39	chr9:117992800-117994000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:117993200-117993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:117993200-117994000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:117993200-117994000	Enhancers	HSMMtube	muscle
43	chr9:117993200-117994200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:117993400-117993800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:117993600-117995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:117993800-117994000	Enhancers	Esophagus	oesophagus
47	chr9:117993800-117995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:117994000-117994600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:117994000-117995400	Weak transcription	Esophagus	oesophagus
50	chr9:117994000-117996200	Weak transcription	HSMMtube	muscle

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