Variant report

Variant	nsv968584
Chromosome Location	chr9:93143967-93149921
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:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93141218..93144173-chr9:93173013..93175871,2	MCF-7	breast:
2	chr9:93140741..93143322-chr9:93148992..93151722,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-2	chr9:93147298-93147564	XLOC_007769
2	lnc-DIRAS2-2	chr9:93145978-93146003	XLOC_007769
3	lnc-DIRAS2-2	chr9:93147298-93147865	XLOC_007769
4	lnc-DIRAS2-2	chr9:93145892-93146003	XLOC_007769
5	lnc-DIRAS2-2	chr9:93145799-93146003	NONHSAT133001
6	lnc-DIRAS2-2	chr9:93145802-93146003	NR_109795

No data

Extended variants
information (count: 210 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35225434	chr9:93143985-93143986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574265218	chr9:93144002-93144003	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10993249	chr9:93144021-93144022	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144014275	chr9:93144036-93144037	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532107138	chr9:93144146-93144147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1571451	chr9:93144150-93144151	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs73650447	chr9:93144202-93144203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1571452	chr9:93144275-93144276	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs550967217	chr9:93144317-93144318	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373111576	chr9:93144332-93144333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116549085	chr9:93144382-93144383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72742924	chr9:93144435-93144436	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142231098	chr9:93144452-93144453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191221984	chr9:93144503-93144504	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181531294	chr9:93144505-93144506	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559043459	chr9:93144556-93144557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575515152	chr9:93144570-93144571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10125692	chr9:93144599-93144600	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186231428	chr9:93144616-93144617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190106186	chr9:93144636-93144637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532959543	chr9:93144658-93144659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182751794	chr9:93144665-93144666	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540182124	chr9:93144693-93144694	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559892480	chr9:93144746-93144747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577000318	chr9:93144755-93144756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545544841	chr9:93144810-93144811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113612650	chr9:93144837-93144838	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151216087	chr9:93144843-93144844	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531158853	chr9:93144869-93144870	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1946378	chr9:93144870-93144871	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187437387	chr9:93144889-93144890	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35199340	chr9:93144915-93144916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111382718	chr9:93144916-93144917	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530416860	chr9:93144937-93144938	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10993252	chr9:93144955-93144956	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs550041656	chr9:93144996-93144997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528681742	chr9:93145012-93145013	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141368408	chr9:93145154-93145155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539238245	chr9:93145164-93145165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552361543	chr9:93145166-93145167	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78326226	chr9:93145204-93145205	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191061433	chr9:93145216-93145217	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554539692	chr9:93145239-93145240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551270756	chr9:93145253-93145254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145226653	chr9:93145343-93145344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10739975	chr9:93145351-93145352	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537109479	chr9:93145368-93145369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73650448	chr9:93145381-93145382	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370671309	chr9:93145383-93145384	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147705056	chr9:93145391-93145392	Strong transcription Weak transcription	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
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93142800-93147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:93143400-93145600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:93145400-93147600	Weak transcription	Fetal Heart	heart
4	chr9:93145600-93146000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:93146000-93147200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:93146400-93146800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:93147000-93147200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:93147000-93147400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:93147200-93147400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:93147400-93156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:93147600-93148000	Enhancers	Fetal Heart	heart

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