Variant report

Variant	nsv515150
Chromosome Location	chr9:72098572-72120420
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
2	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
3	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
4	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
5	chr9:72088172..72090177-chr9:72119590..72122551,2	MCF-7	breast:
6	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
7	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
8	chr9:72089155..72091732-chr9:72106824..72109478,2	MCF-7	breast:
9	chr9:72113417..72115409-chr9:72425666..72428097,2	K562	blood:
10	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
11	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM189A2-1	chr9:72109203-72109429	ENSG00000229312.1
2	lnc-FAM189A2-1	chr9:72109203-72109429	ENSG00000229312.2

No data

Extended variants
information (count: 835 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1331973	chr9:72098585-72098586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181490864	chr9:72098652-72098653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138068908	chr9:72098654-72098655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369596508	chr9:72098675-72098676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1331974	chr9:72098760-72098761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375457293	chr9:72098801-72098802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35516290	chr9:72098804-72098805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573067839	chr9:72098867-72098868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531564519	chr9:72098869-72098870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143136805	chr9:72098903-72098904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538153060	chr9:72098932-72098933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542181224	chr9:72098944-72098945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571460551	chr9:72098948-72098949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186175856	chr9:72098982-72098983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147475231	chr9:72099015-72099016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565711633	chr9:72099036-72099037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535924743	chr9:72099048-72099049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554269969	chr9:72099114-72099115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573865220	chr9:72099167-72099168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377581868	chr9:72099217-72099218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544415117	chr9:72099224-72099225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556778832	chr9:72099225-72099226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578191215	chr9:72099312-72099313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116615293	chr9:72099322-72099323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544632687	chr9:72099364-72099365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560278711	chr9:72099367-72099368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527721648	chr9:72099383-72099384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543122889	chr9:72099401-72099402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561389377	chr9:72099505-72099506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190748121	chr9:72099513-72099514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550004008	chr9:72099545-72099546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182919724	chr9:72099593-72099594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186728989	chr9:72099595-72099596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139951601	chr9:72099611-72099612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1331975	chr9:72099624-72099625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547702569	chr9:72099644-72099645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565515595	chr9:72099669-72099670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554022482	chr9:72099682-72099683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141500881	chr9:72099706-72099707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554206629	chr9:72099799-72099800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569424265	chr9:72099889-72099890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35896934	chr9:72099900-72099901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144227476	chr9:72099932-72099933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148799332	chr9:72100007-72100008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7021184	chr9:72100051-72100052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573943195	chr9:72100052-72100053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190770201	chr9:72100064-72100065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545362775	chr9:72100069-72100070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554478669	chr9:72100107-72100108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572444157	chr9:72100109-72100110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72087800-72101400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:72092000-72098600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:72092200-72101600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:72098600-72099000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:72098600-72099600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr9:72099000-72101400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:72099200-72099600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:72099200-72103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr9:72099600-72101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:72100000-72100200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr9:72100000-72100800	Enhancers	HepG2	liver
12	chr9:72100000-72101600	Enhancers	Stomach Mucosa	stomach
13	chr9:72100200-72100400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:72100200-72101400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:72100400-72101200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:72101200-72101600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:72101200-72101600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:72101400-72101600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:72101400-72101600	Enhancers	HepG2	liver
20	chr9:72101400-72101800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:72101400-72101800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:72101400-72101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:72101400-72101800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:72101400-72101800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:72101400-72101800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:72101400-72102400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr9:72101400-72102600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:72101400-72102600	Enhancers	Brain Hippocampus Middle	brain
29	chr9:72101600-72101800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:72101600-72101800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:72101600-72102400	Enhancers	Brain Substantia Nigra	brain
32	chr9:72101800-72108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:72101800-72110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:72102400-72111600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:72103400-72103800	Enhancers	Liver	Liver
36	chr9:72107600-72107800	Enhancers	Fetal Brain Female	brain
37	chr9:72107600-72107800	Enhancers	Pancreas	Pancrea
38	chr9:72107800-72111000	Weak transcription	Fetal Brain Female	brain
39	chr9:72107800-72130000	Weak transcription	Pancreas	Pancrea
40	chr9:72108400-72108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:72108600-72109600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:72109200-72109400	Enhancers	Brain Germinal Matrix	brain
43	chr9:72109400-72109600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:72109400-72110000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:72109400-72110200	Weak transcription	Brain Germinal Matrix	brain
46	chr9:72109600-72110400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:72109800-72110000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:72109800-72110000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:72109800-72110200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr9:72109800-72110600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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