Variant report

Variant	nsv523940
Chromosome Location	chr9:94546564-94573753
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94546747..94548711-chr9:94551493..94554403,2	K562	blood:
2	chr9:94547554..94551405-chr9:94555591..94559410,4	K562	blood:
3	chr9:94541932..94544615-chr9:94547110..94550430,3	MCF-7	breast:
4	chr9:94530728..94533133-chr9:94548212..94550355,2	K562	blood:
5	chr9:94538454..94541185-chr9:94545334..94547122,2	K562	blood:
6	chr9:94560025..94562581-chr9:94709584..94711088,2	K562	blood:
7	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:
8	chr9:94549725..94552292-chr9:94608057..94610041,2	K562	blood:
9	chr9:94545257..94548150-chr9:94554695..94556652,2	K562	blood:
10	chr9:94546747..94548711-chr9:94551493..94554403,2	K562	blood:
11	chr9:94566439..94568761-chr9:94577681..94581250,3	MCF-7	breast:
12	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:
13	chr9:94543593..94546607-chr9:94711686..94713670,3	K562	blood:
14	chr9:94547554..94551405-chr9:94555591..94559410,4	K562	blood:
15	chr9:94569574..94571873-chr9:94577542..94579809,2	K562	blood:
16	chr9:94554175..94556375-chr9:94562019..94564292,2	MCF-7	breast:
17	chr9:94572281..94574995-chr9:94578094..94579689,2	MCF-7	breast:
18	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:
19	chr9:94561614..94563695-chr9:94575590..94578350,2	K562	blood:
20	chr9:94568416..94571660-chr9:94580532..94583534,3	K562	blood:
21	chr9:94545257..94548150-chr9:94554695..94556652,2	K562	blood:
22	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:
23	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:
24	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:
25	chr9:94554175..94556375-chr9:94562019..94564292,2	MCF-7	breast:
26	chr9:94570310..94572963-chr9:94575340..94577393,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169071	chromatin interactions

Extended variants
information (count: 1093 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1093 , 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	rs3935382	chr9:94546564-94546565	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs531518755	chr9:94546569-94546570	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549676189	chr9:94546581-94546582	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192478877	chr9:94546604-94546605	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373548164	chr9:94546619-94546620	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536512089	chr9:94546662-94546663	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368835394	chr9:94546663-94546664	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552081399	chr9:94546668-94546669	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547397276	chr9:94546689-94546690	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370590133	chr9:94546699-94546700	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565727393	chr9:94546713-94546714	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184032725	chr9:94546749-94546750	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10992103	chr9:94546794-94546795	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548639908	chr9:94546959-94546960	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570187494	chr9:94546972-94546973	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4595189	chr9:94546983-94546984	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4378021	chr9:94547058-94547059	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs78684094	chr9:94547073-94547074	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535329606	chr9:94547081-94547082	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187863912	chr9:94547105-94547106	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571987026	chr9:94547123-94547124	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542394612	chr9:94547168-94547169	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371996987	chr9:94547171-94547172	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561055961	chr9:94547196-94547197	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374153388	chr9:94547255-94547256	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368767873	chr9:94547258-94547259	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143800286	chr9:94547323-94547324	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543217798	chr9:94547331-94547332	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10992104	chr9:94547368-94547369	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs58825334	chr9:94547376-94547377	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570172906	chr9:94547378-94547379	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73651524	chr9:94547394-94547395	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4497030	chr9:94547455-94547456	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76380061	chr9:94547483-94547484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76654563	chr9:94547524-94547525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540074097	chr9:94547528-94547529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140767035	chr9:94547558-94547559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141494729	chr9:94547595-94547596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552848062	chr9:94547693-94547694	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78925779	chr9:94547711-94547712	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192026780	chr9:94547747-94547748	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78211124	chr9:94547769-94547770	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150560554	chr9:94547839-94547840	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375285094	chr9:94547872-94547873	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4601388	chr9:94547923-94547924	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs554222219	chr9:94547943-94547944	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574582135	chr9:94547983-94547984	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs139588594	chr9:94547985-94547986	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184210435	chr9:94547988-94547989	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558377665	chr9:94547991-94547992	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Mental retardation	21693067	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
Breast cancer	21364760	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94533400-94549600	Weak transcription	Colonic Mucosa	Colon
2	chr9:94534400-94546800	Weak transcription	Fetal Kidney	kidney
3	chr9:94538000-94548800	Weak transcription	Esophagus	oesophagus
4	chr9:94543200-94546600	Enhancers	Fetal Lung	lung
5	chr9:94543400-94549200	Enhancers	Colon Smooth Muscle	Colon
6	chr9:94543600-94551200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:94543800-94549000	Weak transcription	Fetal Heart	heart
8	chr9:94544600-94546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:94544600-94551000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:94545000-94547400	Genic enhancers	Fetal Stomach	stomach
11	chr9:94545400-94546800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr9:94545400-94547600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:94545400-94553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:94545400-94555800	Weak transcription	Ovary	ovary
15	chr9:94545600-94547600	Weak transcription	Fetal Intestine Small	intestine
16	chr9:94545600-94547800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:94546000-94546600	Enhancers	Brain Germinal Matrix	brain
18	chr9:94546000-94547200	Enhancers	Gastric	stomach
19	chr9:94546000-94547800	Enhancers	Rectal Smooth Muscle	rectum
20	chr9:94546000-94547800	Enhancers	K562	blood
21	chr9:94546000-94549800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:94546400-94546800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr9:94546400-94547800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr9:94546600-94547000	Weak transcription	Fetal Lung	lung
25	chr9:94546600-94547400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr9:94546800-94547000	Enhancers	Fetal Kidney	kidney
27	chr9:94546800-94549200	Enhancers	Stomach Smooth Muscle	stomach
28	chr9:94547000-94547600	Enhancers	Stomach Mucosa	stomach
29	chr9:94547000-94548200	Enhancers	Fetal Lung	lung
30	chr9:94547200-94547800	Weak transcription	Gastric	stomach
31	chr9:94547200-94547800	Enhancers	NHDF-Ad	bronchial
32	chr9:94547400-94548200	Enhancers	Fetal Stomach	stomach
33	chr9:94547600-94547800	Enhancers	Fetal Intestine Small	intestine
34	chr9:94547600-94548200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:94547800-94548000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:94547800-94548000	Enhancers	Gastric	stomach
37	chr9:94547800-94548400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:94547800-94548400	Flanking Active TSS	K562	blood
39	chr9:94547800-94549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:94547800-94552800	Weak transcription	NHDF-Ad	bronchial
41	chr9:94548000-94552400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:94548200-94549600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:94548200-94557800	Weak transcription	Fetal Lung	lung
44	chr9:94548400-94548800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:94548400-94548800	Enhancers	K562	blood
46	chr9:94548400-94549400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:94548400-94549400	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:94548800-94549000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:94548800-94549000	Enhancers	Esophagus	oesophagus
50	chr9:94548800-94549400	Flanking Active TSS	K562	blood

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