Variant report

Variant	nsv614567
Chromosome Location	chr9:72089820-72118767
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
2	chr9:72089279..72091764-chr9:72373318..72374835,2	MCF-7	breast:
3	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
4	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
5	chr9:72086703..72089641-chr9:72090516..72093121,4	MCF-7	breast:
6	chr9:72089155..72091732-chr9:72106824..72109478,2	MCF-7	breast:
7	chr9:72088172..72090177-chr9:72119590..72122551,2	MCF-7	breast:
8	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
9	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
10	chr9:72089155..72091732-chr9:72106824..72109478,2	MCF-7	breast:
11	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
12	chr9:72113417..72115409-chr9:72425666..72428097,2	K562	blood:
13	chr9:72098831..72100503-chr9:72120147..72122522,2	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

Variant related genes	Relation type
ENSG00000229312	chromatin interactions

Extended variants
information (count: 1033 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1033 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2781540	chr9:72089820-72089821	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545292796	chr9:72089869-72089870	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554409624	chr9:72089966-72089967	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117651808	chr9:72090016-72090017	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542960866	chr9:72090136-72090137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532318417	chr9:72090271-72090272	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145251371	chr9:72090287-72090288	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375336040	chr9:72090288-72090289	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531774546	chr9:72090289-72090290	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs137857559	chr9:72090321-72090322	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188561018	chr9:72090373-72090374	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180709495	chr9:72090377-72090378	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532301594	chr9:72090405-72090406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs56982203	chr9:72090453-72090454	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs56800612	chr9:72090458-72090459	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186023675	chr9:72090476-72090477	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs2781541	chr9:72090480-72090481	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112811020	chr9:72090499-72090500	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs569293155	chr9:72090501-72090502	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536673328	chr9:72090612-72090613	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138636057	chr9:72090619-72090620	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570226869	chr9:72090621-72090622	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149305300	chr9:72090631-72090632	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192185093	chr9:72090636-72090637	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572640050	chr9:72090680-72090681	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534542576	chr9:72090681-72090682	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372593961	chr9:72090702-72090703	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573572409	chr9:72090760-72090761	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2781542	chr9:72090806-72090807	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542936794	chr9:72090826-72090827	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555330911	chr9:72090851-72090852	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528338148	chr9:72090868-72090869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182018444	chr9:72090903-72090904	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543855325	chr9:72090910-72090911	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565340585	chr9:72090927-72090928	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146989913	chr9:72090963-72090964	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138175870	chr9:72090979-72090980	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553516051	chr9:72090986-72090987	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143767519	chr9:72091013-72091014	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150818997	chr9:72091014-72091015	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532505436	chr9:72091018-72091019	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201849958	chr9:72091019-72091020	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138179284	chr9:72091034-72091035	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149565037	chr9:72091050-72091051	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199574638	chr9:72091054-72091055	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377069119	chr9:72091082-72091083	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201454890	chr9:72091089-72091090	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371081962	chr9:72091094-72091095	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374373668	chr9:72091097-72091098	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377659402	chr9:72091103-72091104	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72079000-72091600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:72081600-72090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:72082000-72091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:72082200-72090600	Weak transcription	Fetal Lung	lung
5	chr9:72082200-72091000	Weak transcription	Fetal Stomach	stomach
6	chr9:72082400-72090200	Weak transcription	Spleen	Spleen
7	chr9:72082400-72091200	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:72082800-72091000	Weak transcription	Esophagus	oesophagus
9	chr9:72082800-72091400	Weak transcription	Brain Germinal Matrix	brain
10	chr9:72083000-72091000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:72086000-72090000	Weak transcription	Gastric	stomach
12	chr9:72086400-72090800	Weak transcription	Brain Anterior Caudate	brain
13	chr9:72086600-72091400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:72086600-72091800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:72086800-72091400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:72087200-72090000	Weak transcription	HUVEC	blood vessel
17	chr9:72087400-72091000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:72087600-72090200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:72087600-72091400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:72087600-72091600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:72087600-72091600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:72087800-72090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:72087800-72091000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:72087800-72091600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:72087800-72101400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:72088000-72090200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:72088000-72096800	Weak transcription	Liver	Liver
28	chr9:72088200-72091000	Weak transcription	Fetal Brain Female	brain
29	chr9:72089000-72090000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr9:72089000-72092200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:72089200-72091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr9:72089200-72092000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr9:72089400-72090000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:72089400-72090200	Enhancers	Pancreas	Pancrea
35	chr9:72089400-72090400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:72089400-72091200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr9:72089400-72092000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:72089400-72092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr9:72089400-72092200	Enhancers	Fetal Thymus	thymus
40	chr9:72089600-72091000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr9:72089800-72090600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr9:72089800-72091000	Enhancers	Primary hematopoietic stem cells	blood
43	chr9:72089800-72091800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:72089800-72092000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr9:72089800-72092000	Enhancers	Stomach Mucosa	stomach
46	chr9:72090000-72090400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr9:72090000-72090600	Enhancers	Gastric	stomach
48	chr9:72090000-72091400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:72090000-72091800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr9:72090200-72090400	Enhancers	Spleen	Spleen

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