Variant report

Variant	nsv614949
Chromosome Location	chr9:101328200-101361584
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:36)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101357111..101359289-chr9:101361878..101364554,2	K562	blood:
2	chr9:101345246..101347632-chr9:101356201..101357934,2	K562	blood:
3	chr9:101348954..101351869-chr9:101360452..101363029,2	MCF-7	breast:
4	chr9:101348915..101351128-chr9:101353321..101355170,2	K562	blood:
5	chr9:101326856..101330632-chr9:101345515..101347959,3	MCF-7	breast:
6	chr9:101339857..101342446-chr9:101344383..101346265,2	K562	blood:
7	chr9:101326901..101329877-chr9:101330585..101332880,2	MCF-7	breast:
8	chr9:101299271..101301667-chr9:101337851..101340392,3	K562	blood:
9	chr9:101299271..101301667-chr9:101338837..101340392,2	K562	blood:
10	chr9:100985884..100987552-chr9:101338136..101340156,2	K562	blood:
11	chr9:101336462..101338082-chr9:101358424..101360399,2	K562	blood:
12	chr9:101326901..101329877-chr9:101330585..101332880,2	MCF-7	breast:
13	chr9:101321972..101324468-chr9:101326630..101329406,2	K562	blood:
14	chr9:101345246..101347632-chr9:101356201..101357934,2	K562	blood:
15	chr9:101336462..101338082-chr9:101358424..101360399,2	K562	blood:
16	chr9:101326856..101330632-chr9:101345515..101347959,3	MCF-7	breast:
17	chr9:101357019..101358611-chr9:101362189..101364554,2	K562	blood:
18	chr9:101357716..101359633-chr9:101366066..101368066,2	MCF-7	breast:
19	chr9:101340573..101343071-chr9:101347948..101351619,3	MCF-7	breast:
20	chr9:101334595..101337716-chr9:101344699..101348746,4	MCF-7	breast:
21	chr9:101357066..101358707-chr9:101361271..101363344,2	MCF-7	breast:
22	chr9:101337939..101341594-chr9:101346528..101349148,3	K562	blood:
23	chr9:101318485..101320124-chr9:101327900..101329423,2	K562	blood:
24	chr9:101348915..101351128-chr9:101353321..101355170,2	K562	blood:
25	chr9:101357066..101358707-chr9:101361271..101363344,2	MCF-7	breast:
26	chr9:101077608..101078459-chr9:101336024..101336612,2	MCF-7	breast:
27	chr9:101336976..101339152-chr9:101342550..101344694,3	K562	blood:
28	chr9:101340573..101343071-chr9:101347948..101351619,3	MCF-7	breast:
29	chr9:101336976..101339152-chr9:101342550..101344694,3	K562	blood:
30	chr9:101337939..101341594-chr9:101346528..101349148,3	K562	blood:
31	chr9:101348020..101348980-chr9:101537926..101538570,2	MCF-7	breast:
32	chr9:101339857..101342446-chr9:101344383..101346265,2	K562	blood:
33	chr9:101334595..101337716-chr9:101344699..101348746,4	MCF-7	breast:
34	chr9:101348954..101351869-chr9:101360452..101363029,2	MCF-7	breast:
35	chr9:101336173..101338737-chr9:101536498..101538853,2	K562	blood:
36	chr9:101324685..101326853-chr9:101329225..101330957,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALNT12-3	chr9:101333799-101333915	NONHSAT133605
2	lnc-GALNT12-3	chr9:101333616-101333915	l_3821_chr9:101333615-101339128_testes
3	lnc-GALNT12-3	chr9:101338726-101339220	l_3821_chr9:101333615-101339128_testes
4	lnc-GALNT12-3	chr9:101338726-101339027	NONHSAT133605

No data

Extended variants
information (count: 1334 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1167767	chr9:101328200-101328201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148970154	chr9:101328205-101328206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534254294	chr9:101328236-101328237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374999227	chr9:101328258-101328259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143710356	chr9:101328267-101328268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566136824	chr9:101328272-101328273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80123416	chr9:101328286-101328287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572738741	chr9:101328321-101328322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555188802	chr9:101328374-101328375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16917183	chr9:101328375-101328376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537522498	chr9:101328399-101328400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558019007	chr9:101328400-101328401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577904622	chr9:101328404-101328405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376435744	chr9:101328410-101328411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371110002	chr9:101328433-101328434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558345249	chr9:101328470-101328471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369357517	chr9:101328494-101328495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113630503	chr9:101328537-101328538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560439930	chr9:101328560-101328561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190378878	chr9:101328587-101328588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116491033	chr9:101328645-101328646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562863321	chr9:101328712-101328713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146434546	chr9:101328738-101328739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551442658	chr9:101328785-101328786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565176856	chr9:101328787-101328788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576550827	chr9:101328793-101328794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527874241	chr9:101328801-101328802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544360713	chr9:101328819-101328820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547696033	chr9:101328825-101328826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181904987	chr9:101328856-101328857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535129814	chr9:101328858-101328859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112927698	chr9:101328881-101328882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200616222	chr9:101328898-101328899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548993801	chr9:101328906-101328907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568745090	chr9:101328910-101328911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1186363	chr9:101328913-101328914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs199624757	chr9:101328942-101328943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186593841	chr9:101328952-101328953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200915778	chr9:101328962-101328963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577916811	chr9:101328973-101328974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62576025	chr9:101328989-101328990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554123794	chr9:101329060-101329061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555134979	chr9:101329102-101329103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55752458	chr9:101329103-101329104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2779522	chr9:101329110-101329111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112009507	chr9:101329119-101329120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552563878	chr9:101329183-101329184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141812220	chr9:101329194-101329195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562932402	chr9:101329203-101329204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576348027	chr9:101329222-101329223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101325800-101333000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:101328200-101332800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:101329400-101329600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:101329600-101329800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:101330800-101331600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:101330800-101331600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:101331000-101331200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:101331200-101332000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:101331600-101332000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:101331600-101334000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:101332000-101332200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:101332200-101334800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:101332400-101333000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:101332400-101333600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr9:101332800-101333400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:101332800-101334400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:101332800-101355600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:101333000-101333400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:101333400-101333600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:101333400-101333600	Enhancers	Spleen	Spleen
21	chr9:101333400-101334200	Enhancers	Brain Angular Gyrus	brain
22	chr9:101333400-101339800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:101333600-101335200	Weak transcription	Spleen	Spleen
24	chr9:101333800-101335000	Enhancers	Fetal Intestine Large	intestine
25	chr9:101334000-101334400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:101334000-101335000	Enhancers	Fetal Intestine Small	intestine
27	chr9:101334000-101335400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:101334000-101335400	Enhancers	GM12878-XiMat	blood
29	chr9:101334200-101335000	Weak transcription	Brain Angular Gyrus	brain
30	chr9:101334400-101336600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:101334600-101335200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr9:101334800-101335400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:101335000-101335200	Enhancers	Brain Angular Gyrus	brain
34	chr9:101335000-101340000	Weak transcription	Fetal Intestine Large	intestine
35	chr9:101335000-101340000	Weak transcription	Fetal Intestine Small	intestine
36	chr9:101335200-101335400	Enhancers	Spleen	Spleen
37	chr9:101335200-101337800	Weak transcription	Brain Angular Gyrus	brain
38	chr9:101335400-101336800	Weak transcription	GM12878-XiMat	blood
39	chr9:101335400-101337600	Weak transcription	Spleen	Spleen
40	chr9:101336400-101337600	Enhancers	K562	blood
41	chr9:101336600-101338000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:101336800-101337600	Enhancers	GM12878-XiMat	blood
43	chr9:101337000-101339400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:101337200-101337600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr9:101337200-101338200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:101337400-101337600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr9:101337400-101337800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:101337400-101338400	Enhancers	HMEC	breast
49	chr9:101337400-101338600	Enhancers	NH-A	brain
50	chr9:101337400-101338800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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