Variant report

Variant	nsv614582
Chromosome Location	chr9:72758742-72763436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72762270..72763345-chr9:72843683..72845020,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF9-1	chr9:72762897-72762994	ENSG00000204706.10

Extended variants
information (count: 159 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12683706	chr9:72758742-72758743	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373802749	chr9:72758744-72758745	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200843003	chr9:72758754-72758755	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs59725916	chr9:72758766-72758767	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12684987	chr9:72758785-72758786	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576046615	chr9:72758804-72758805	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181685139	chr9:72758810-72758811	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139051224	chr9:72758850-72758851	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369618199	chr9:72758881-72758882	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115146110	chr9:72758923-72758924	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564021905	chr9:72758950-72758951	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138681758	chr9:72759055-72759056	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76756308	chr9:72759064-72759065	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555652505	chr9:72759081-72759082	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184402815	chr9:72759096-72759097	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370277125	chr9:72759103-72759104	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572340374	chr9:72759145-72759146	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530041883	chr9:72759181-72759182	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548524420	chr9:72759204-72759205	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569931413	chr9:72759207-72759208	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114065947	chr9:72759259-72759260	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1927116	chr9:72759292-72759293	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142967097	chr9:72759371-72759372	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534406068	chr9:72759464-72759465	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554372622	chr9:72759488-72759489	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572327740	chr9:72759505-72759506	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536415709	chr9:72759521-72759522	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554854650	chr9:72759527-72759528	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150483061	chr9:72759544-72759545	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543846700	chr9:72759545-72759546	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571558014	chr9:72759551-72759552	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559878183	chr9:72759573-72759574	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577299363	chr9:72759588-72759589	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189160114	chr9:72759611-72759612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559769425	chr9:72759613-72759614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116433144	chr9:72759622-72759623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542003456	chr9:72759735-72759736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138324537	chr9:72759740-72759741	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149627413	chr9:72759762-72759763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552186498	chr9:72759831-72759832	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548982263	chr9:72759913-72759914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17088889	chr9:72759980-72759981	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537844652	chr9:72760008-72760009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374430045	chr9:72760013-72760014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144327525	chr9:72760037-72760038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4744983	chr9:72760053-72760054	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567778679	chr9:72760086-72760087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536452507	chr9:72760094-72760095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181098586	chr9:72760110-72760111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554742022	chr9:72760134-72760135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:72740600-72766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:72741400-72765600	Weak transcription	Esophagus	oesophagus
8	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
9	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
10	chr9:72746600-72762600	Weak transcription	Psoas Muscle	Psoas
11	chr9:72748600-72762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:72749800-72762600	Weak transcription	Fetal Stomach	stomach
13	chr9:72749800-72763000	Weak transcription	Lung	lung
14	chr9:72750400-72762600	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:72750400-72771600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:72751000-72771800	Weak transcription	Aorta	Aorta
17	chr9:72752000-72779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:72752400-72775200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:72752600-72771400	Weak transcription	NH-A	brain
20	chr9:72752800-72759400	Weak transcription	HMEC	breast
21	chr9:72753200-72761000	Weak transcription	Ovary	ovary
22	chr9:72753800-72770000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:72754800-72760000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:72754800-72764200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:72755000-72761600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:72755400-72765800	Weak transcription	Left Ventricle	heart
27	chr9:72755800-72761800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:72757400-72759800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr9:72757600-72761000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:72757800-72761600	Strong transcription	HSMMtube	muscle
31	chr9:72758000-72760000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:72758200-72760400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:72758400-72758800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:72758400-72759000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:72758400-72759000	Genic enhancers	Colon Smooth Muscle	Colon
36	chr9:72758400-72759200	Genic enhancers	Rectal Smooth Muscle	rectum
37	chr9:72758400-72759600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr9:72758400-72761200	Strong transcription	HSMM	muscle
39	chr9:72758600-72758800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:72758600-72758800	Enhancers	Colonic Mucosa	Colon
41	chr9:72758600-72759000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:72758800-72759600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:72758800-72761600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:72758800-72772200	Weak transcription	Colonic Mucosa	Colon
45	chr9:72759000-72759200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr9:72759000-72761000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:72759000-72763800	Strong transcription	Colon Smooth Muscle	Colon
48	chr9:72759200-72761600	Strong transcription	Rectal Smooth Muscle	rectum
49	chr9:72759200-72774400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:72759400-72759800	Strong transcription	HMEC	breast

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