Variant report

Variant	nsv615252
Chromosome Location	chr9:118253001-118314667
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:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117776404..117777930-chr9:118286444..118287425,4	MCF-7	breast:
2	chr9:117443932..117444479-chr9:118286459..118287036,2	MCF-7	breast:
3	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
4	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
5	chr9:118313061..118314706-chr9:118831781..118833432,2	MCF-7	breast:
6	chr9:117988130..117988677-chr9:118286316..118287411,4	MCF-7	breast:
7	chr9:117988097..117989116-chr9:118286127..118287416,14	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEC1-1	chr9:118279334-118279475	ENSG00000197486
2	lnc-DEC1-6	chr9:118258510-118258849	NONHSAT134413
3	lnc-DEC1-6	chr9:118284992-118285098	NONHSAT134413
4	lnc-DEC1-1	chr9:118306383-118306444	ucscGeneNc_uc004bju_1

No data

Variant related genes	Relation type
DMXL2	miRNA target sites

Extended variants
information (count: 2158 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2158 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2418351	chr9:118253001-118253002	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554772362	chr9:118253006-118253007	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188520687	chr9:118253020-118253021	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374588144	chr9:118253021-118253022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536724840	chr9:118253051-118253052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550608725	chr9:118253066-118253067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181024198	chr9:118253110-118253111	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569097327	chr9:118253112-118253113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184388433	chr9:118253121-118253122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190529228	chr9:118253145-118253146	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565301355	chr9:118253202-118253203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149829510	chr9:118253215-118253216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544922417	chr9:118253309-118253310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182268275	chr9:118253330-118253331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561124727	chr9:118253383-118253384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75534110	chr9:118253442-118253443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569436074	chr9:118253450-118253451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148956337	chr9:118253560-118253561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144182739	chr9:118253563-118253564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76371116	chr9:118253576-118253577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551860678	chr9:118253609-118253610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568852774	chr9:118253625-118253626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554775311	chr9:118253642-118253643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186761291	chr9:118253649-118253650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537736470	chr9:118253662-118253663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201852923	chr9:118253670-118253671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536040310	chr9:118253673-118253674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7467654	chr9:118253677-118253678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568261620	chr9:118253693-118253694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533930783	chr9:118253697-118253698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141263802	chr9:118253840-118253841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190467365	chr9:118253862-118253863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2213917	chr9:118253881-118253882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78904218	chr9:118253888-118253889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372991120	chr9:118253914-118253915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138776769	chr9:118253964-118253965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181553064	chr9:118254018-118254019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554883272	chr9:118254048-118254049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574801504	chr9:118254071-118254072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140259963	chr9:118254075-118254076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185883451	chr9:118254107-118254108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571002111	chr9:118254126-118254127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111450260	chr9:118254127-118254128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376239809	chr9:118254199-118254200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73512269	chr9:118254200-118254201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576443104	chr9:118254215-118254216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531386764	chr9:118254269-118254270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548213753	chr9:118254284-118254285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549023934	chr9:118254285-118254286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527603871	chr9:118254337-118254338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118237600-118257000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:118238200-118269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:118241400-118269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:118242000-118260600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:118244800-118256800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:118244800-118269400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:118246000-118257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:118248800-118257200	Weak transcription	Aorta	Aorta
9	chr9:118249200-118275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:118249400-118255200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:118252200-118255600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:118252200-118257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:118252800-118253200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:118252800-118257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:118253000-118255600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:118253200-118255800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:118255200-118256000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:118255200-118257200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:118255600-118257000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:118255600-118257400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr9:118255800-118256200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:118255800-118257400	Enhancers	NHDF-Ad	bronchial
23	chr9:118256000-118257400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:118256000-118258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr9:118256000-118259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:118256200-118256600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:118256200-118257400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:118256400-118257800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:118256600-118257000	Bivalent Enhancer	A549	lung
30	chr9:118256600-118257400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:118256600-118257400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:118256600-118258600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:118256800-118257400	Enhancers	Fetal Stomach	stomach
34	chr9:118256800-118257600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:118256800-118258400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:118256800-118258400	Enhancers	Fetal Intestine Small	intestine
37	chr9:118257000-118257200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr9:118257000-118257600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr9:118257000-118257600	Enhancers	A549	lung
40	chr9:118257000-118258000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:118257000-118258000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr9:118257000-118258000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:118257000-118258000	Enhancers	Fetal Kidney	kidney
44	chr9:118257000-118258400	Enhancers	Liver	Liver
45	chr9:118257000-118258400	Enhancers	HepG2	liver
46	chr9:118257200-118257400	Enhancers	Aorta	Aorta
47	chr9:118257200-118257600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:118257200-118258000	Enhancers	Colonic Mucosa	Colon
49	chr9:118257200-118258000	Enhancers	Fetal Lung	lung
50	chr9:118257200-118258000	Enhancers	Sigmoid Colon	Sigmoid Colon

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