Variant report

Variant	nsv982647
Chromosome Location	chr9:94456202-94474602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:
2	chr8:144976748..144977249-chr9:94459138..94459897,2	MCF-7	breast:
3	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:

Extended variants
information (count: 710 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529980300	chr9:94456207-94456208	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548326700	chr9:94456244-94456245	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112744533	chr9:94456314-94456315	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373084905	chr9:94456371-94456372	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570055654	chr9:94456382-94456383	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531072954	chr9:94456388-94456389	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs923772	chr9:94456490-94456491	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs41308938	chr9:94456503-94456504	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534878956	chr9:94456533-94456534	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373760714	chr9:94456550-94456551	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572452222	chr9:94456582-94456583	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566576081	chr9:94456613-94456614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535171367	chr9:94456624-94456625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs923771	chr9:94456643-94456644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7865967	chr9:94456648-94456649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369851255	chr9:94456650-94456651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539677128	chr9:94456688-94456689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369752199	chr9:94456705-94456706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575586891	chr9:94456713-94456714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs923769	chr9:94456714-94456715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558193440	chr9:94456832-94456833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576987260	chr9:94456883-94456884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540893120	chr9:94456954-94456955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150063276	chr9:94456955-94456956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145194423	chr9:94457077-94457078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542103010	chr9:94457087-94457088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563674456	chr9:94457130-94457131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187083223	chr9:94457136-94457137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191682075	chr9:94457141-94457142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570985922	chr9:94457153-94457154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148728557	chr9:94457216-94457217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546920927	chr9:94457299-94457300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370172952	chr9:94457325-94457326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556993895	chr9:94457330-94457331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568639011	chr9:94457344-94457345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76118006	chr9:94457350-94457351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12684339	chr9:94457379-94457380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184235225	chr9:94457382-94457383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535566900	chr9:94457394-94457395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3123758	chr9:94457410-94457411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558105438	chr9:94457469-94457470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576899878	chr9:94457472-94457473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144707442	chr9:94457498-94457499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147911259	chr9:94457522-94457523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189015011	chr9:94457542-94457543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542162630	chr9:94457543-94457544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113100254	chr9:94457661-94457662	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs386736264	chr9:94457683-94457684	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs56915672	chr9:94457690-94457691	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs56706651	chr9:94457697-94457698	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94444200-94461400	Weak transcription	Right Atrium	heart
2	chr9:94450600-94457600	Weak transcription	Gastric	stomach
3	chr9:94451600-94457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94453200-94457600	Weak transcription	Pancreas	Pancrea
5	chr9:94453400-94463600	Weak transcription	Fetal Stomach	stomach
6	chr9:94454000-94468200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:94455200-94456600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:94455200-94456800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:94455200-94457000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:94455400-94456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:94455400-94456400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:94455400-94457200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:94455600-94456400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:94455600-94456800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr9:94455600-94456800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:94455800-94456600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:94455800-94457200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr9:94456000-94456400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:94456000-94456400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:94456000-94456600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:94456000-94456800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:94456000-94456800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:94456000-94457000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:94456200-94457600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:94456200-94457600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:94456400-94457600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:94456400-94457600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:94456400-94457800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:94456600-94460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:94456600-94460400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:94456600-94462400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:94456800-94457600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr9:94456800-94458200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:94456800-94459400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:94457400-94457600	Enhancers	Spleen	Spleen
36	chr9:94457600-94457800	Bivalent Enhancer	Brain Substantia Nigra	brain
37	chr9:94457600-94458000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:94457600-94458000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:94457600-94458000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:94457600-94458000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr9:94457600-94458000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:94457600-94458000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:94457600-94458000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:94457600-94458000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr9:94457600-94458000	Enhancers	Esophagus	oesophagus
46	chr9:94457600-94458000	ZNF genes & repeats	Fetal Kidney	kidney
47	chr9:94457600-94458000	Active TSS	Fetal Lung	lung
48	chr9:94457600-94458000	Enhancers	Gastric	stomach
49	chr9:94457600-94458000	Enhancers	Lung	lung
50	chr9:94457600-94458000	ZNF genes & repeats	Pancreas	Pancrea

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