Variant report

Variant	nsv539973
Chromosome Location	chr9:7188471-7358893
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:19)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7094001..7094660-chr9:7234238..7234769,2	MCF-7	breast:
2	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
3	chr1:64982456..64983122-chr9:7222631..7223173,2	MCF-7	breast:
4	chr9:7198706..7201324-chr9:7202364..7204125,2	K562	blood:
5	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
6	chr9:7093984..7094670-chr9:7259334..7260480,4	MCF-7	breast:
7	chr9:7193931..7197834-chr9:7198175..7201948,5	K562	blood:
8	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
9	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
10	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:
11	chr13:72439560..72440061-chr9:7288393..7288893,2	NB4	blood:
12	chr9:7052694..7053246-chr9:7259513..7260136,3	MCF-7	breast:
13	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
14	chr9:7193931..7197834-chr9:7198175..7201948,5	K562	blood:
15	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
16	chr9:7052501..7053186-chr9:7233839..7234508,2	MCF-7	breast:
17	chr9:7198706..7201324-chr9:7202364..7204125,2	K562	blood:
18	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
19	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-4	chr9:7208935-7208961	NONHSAT130172
2	lnc-KDM4C-4	chr9:7209772-7210156	NONHSAT130172
3	lnc-KDM4C-3	chr9:7202734-7202875	XLOC_007276
4	lnc-KDM4C-6	chr9:7343265-7343465	XLOC_007278
5	lnc-C9orf123-5	chr9:7344597-7345051	XLOC_007640
6	lnc-C9orf123-9	chr9:7335540-7335590	l_3732_chr9:7334596-7336064_thyroid
7	lnc-C9orf123-9	chr9:7334597-7335051	l_3732_chr9:7334596-7336064_thyroid
8	lnc-KDM4C-4	chr9:7209783-7209962	XLOC_007277
9	lnc-KDM4C-6	chr9:7327926-7328132	XLOC_007278
10	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640
11	lnc-C9orf123-9	chr9:7335933-7336064	l_3732_chr9:7334596-7336064_thyroid
12	lnc-KDM4C-4	chr9:7208936-7208961	XLOC_007277
13	lnc-KDM4C-6	chr9:7304600-7304683	XLOC_007278

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions
LASS2	miRNA target sites

Extended variants
information (count: 7017 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:7017 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546103172	chr9:7188492-7188493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374295511	chr9:7188495-7188496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181054222	chr9:7188500-7188501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75718094	chr9:7188508-7188509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7047530	chr9:7188518-7188519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186094750	chr9:7188520-7188521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528969282	chr9:7188538-7188539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189356462	chr9:7188542-7188543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558903550	chr9:7188554-7188555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533481893	chr9:7188562-7188563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551626828	chr9:7188620-7188621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570179356	chr9:7188626-7188627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537604387	chr9:7188635-7188636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549218853	chr9:7188655-7188656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567789341	chr9:7188720-7188721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535120736	chr9:7188744-7188745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553436560	chr9:7188757-7188758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113721350	chr9:7188767-7188768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572631585	chr9:7188770-7188771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578045056	chr9:7188804-7188805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73401001	chr9:7188873-7188874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558037426	chr9:7188875-7188876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576163436	chr9:7188911-7188912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57207136	chr9:7188920-7188921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559527985	chr9:7188965-7188966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573710750	chr9:7188966-7188967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540711204	chr9:7189045-7189046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544125401	chr9:7189047-7189048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558942343	chr9:7189054-7189055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569995346	chr9:7189101-7189102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115588722	chr9:7189105-7189106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545299729	chr9:7189114-7189115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560843578	chr9:7189135-7189136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563967249	chr9:7189152-7189153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531637529	chr9:7189159-7189160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7037553	chr9:7189204-7189205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145343652	chr9:7189237-7189238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180849765	chr9:7189246-7189247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111404590	chr9:7189260-7189261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547087203	chr9:7189292-7189293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10976103	chr9:7189326-7189327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10976104	chr9:7189330-7189331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532255847	chr9:7189347-7189348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557065810	chr9:7189376-7189377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149787205	chr9:7189431-7189432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536923049	chr9:7189432-7189433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573094247	chr9:7189458-7189459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555572982	chr9:7189463-7189464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187350093	chr9:7189466-7189467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190940937	chr9:7189472-7189473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
2	chr9:7171200-7193000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:7175000-7191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:7183000-7191400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:7186200-7192200	Weak transcription	Primary T cells from cord blood	blood
6	chr9:7186400-7192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:7187000-7191600	Weak transcription	Adipose Nuclei	Adipose
8	chr9:7189600-7190600	Weak transcription	Aorta	Aorta
9	chr9:7190400-7191200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:7190600-7190800	ZNF genes & repeats	Aorta	Aorta
11	chr9:7191200-7196600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:7191600-7192000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:7191600-7192000	Enhancers	Brain Hippocampus Middle	brain
14	chr9:7191600-7192400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:7191600-7192600	Enhancers	Adipose Nuclei	Adipose
16	chr9:7191600-7192600	Enhancers	Stomach Smooth Muscle	stomach
17	chr9:7191800-7192400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:7191800-7192600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:7191800-7192600	Enhancers	Rectal Smooth Muscle	rectum
20	chr9:7191800-7194200	Enhancers	Fetal Muscle Leg	muscle
21	chr9:7192000-7192400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:7192000-7192600	Enhancers	Psoas Muscle	Psoas
23	chr9:7192600-7201400	Weak transcription	Psoas Muscle	Psoas
24	chr9:7193200-7194200	Enhancers	Fetal Muscle Trunk	muscle
25	chr9:7196600-7197400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:7196800-7197600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:7197400-7200800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:7200800-7201000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:7201000-7201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:7201400-7201600	Enhancers	Psoas Muscle	Psoas
31	chr9:7201600-7201800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:7204600-7204800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:7204800-7206000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:7204800-7208800	Weak transcription	Brain Hippocampus Middle	brain
35	chr9:7205200-7205400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:7205200-7205400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:7205400-7206200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:7205600-7206400	Enhancers	Fetal Heart	heart
39	chr9:7205800-7206000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr9:7206000-7206400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:7206200-7210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:7206400-7206600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:7206400-7207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:7206400-7212200	Weak transcription	Fetal Heart	heart
45	chr9:7207000-7209200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:7207400-7207600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:7207600-7208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:7208400-7208800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:7208600-7208800	Enhancers	Brain Substantia Nigra	brain
50	chr9:7208800-7209000	Enhancers	Brain Anterior Caudate	brain

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