Variant report

Variant	esv3386738
Chromosome Location	chr9:72772523-72773029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF9-1	chr9:72772428-72772658	ENSG00000204706.6
2	lnc-KLF9-1	chr9:72772428-72772658	NONHSAT131800

Extended variants
information (count: 20 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531498388	chr9:72772527-72772528	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10116027	chr9:72772541-72772542	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571518761	chr9:72772550-72772551	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532189932	chr9:72772555-72772556	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs547404632	chr9:72772574-72772575	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201019401	chr9:72772586-72772587	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs79757387	chr9:72772608-72772609	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs535947840	chr9:72772636-72772637	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs554623932	chr9:72772658-72772659	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs372280353	chr9:72772688-72772689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73647416	chr9:72772700-72772701	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189753704	chr9:72772705-72772706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538397143	chr9:72772727-72772728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556444177	chr9:72772748-72772749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577914440	chr9:72772792-72772793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182413692	chr9:72772851-72772852	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186839925	chr9:72772857-72772858	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141170926	chr9:72772971-72772972	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147347382	chr9:72772998-72772999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55686336	chr9:72773002-72773003	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
4	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
5	chr9:72752000-72779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:72752400-72775200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:72759200-72774400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
9	chr9:72759800-72774000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:72759800-72792200	Weak transcription	HMEC	breast
11	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:72766200-72785200	Weak transcription	Left Ventricle	heart
13	chr9:72767000-72775400	Weak transcription	Right Atrium	heart
14	chr9:72767400-72780200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:72767600-72774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:72767800-72774600	Weak transcription	Fetal Stomach	stomach
17	chr9:72768400-72773600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:72768600-72780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:72769000-72776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:72769200-72774600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:72769400-72775000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:72769400-72779800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr9:72770000-72774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:72770000-72783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:72770600-72772600	Enhancers	Colon Smooth Muscle	Colon
26	chr9:72770600-72774400	Weak transcription	Ovary	ovary
27	chr9:72770800-72774600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:72771200-72772600	Enhancers	HSMM	muscle
29	chr9:72771600-72780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:72771800-72774400	Weak transcription	NH-A	brain
31	chr9:72772000-72772600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr9:72772000-72774800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:72772000-72775600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:72772000-72775600	Weak transcription	Aorta	Aorta
35	chr9:72772200-72772800	Enhancers	HSMMtube	muscle
36	chr9:72772200-72773000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:72772200-72774400	Weak transcription	Osteobl	bone
38	chr9:72772400-72775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:72772400-72775200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:72772400-72776400	Weak transcription	NHDF-Ad	bronchial
41	chr9:72772600-72773000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr9:72772600-72773800	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:72772600-72774400	Weak transcription	HSMM	muscle
44	chr9:72772800-72773200	Genic enhancers	HSMMtube	muscle
45	chr9:72773000-72773200	Enhancers	Pancreas	Pancrea
46	chr9:72773000-72773800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:72773000-72774400	Weak transcription	Muscle Satellite Cultured Cells	--

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