Variant report

Variant	esv3483551
Chromosome Location	chr9:72760232-72765130
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: 168 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs534131826	chr9:72760244-72760245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558935408	chr9:72760248-72760249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185745674	chr9:72760289-72760290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541380637	chr9:72760319-72760320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141655680	chr9:72760349-72760350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146204911	chr9:72760355-72760356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190762253	chr9:72760356-72760357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563458584	chr9:72760381-72760382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181001409	chr9:72760382-72760383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35188046	chr9:72760404-72760405	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564371529	chr9:72760451-72760452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187123263	chr9:72760461-72760462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192135858	chr9:72760475-72760476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534249215	chr9:72760482-72760483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567864324	chr9:72760491-72760492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80105052	chr9:72760505-72760506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112701861	chr9:72760509-72760510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34970120	chr9:72760510-72760511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3071384	chr9:72760512-72760513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201004087	chr9:72760513-72760514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201853995	chr9:72760514-72760515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574258505	chr9:72760533-72760534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2148862	chr9:72760653-72760654	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370396639	chr9:72760667-72760668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548407023	chr9:72760700-72760701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139098715	chr9:72760748-72760749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12342650	chr9:72760754-72760755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76560687	chr9:72760791-72760792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2148863	chr9:72760836-72760837	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534709920	chr9:72760862-72760863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553399577	chr9:72760871-72760872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575022128	chr9:72760918-72760919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142488646	chr9:72760929-72760930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543866561	chr9:72760967-72760968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183358307	chr9:72760997-72760998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7853298	chr9:72761012-72761013	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374399178	chr9:72761086-72761087	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545945224	chr9:72761121-72761122	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577334332	chr9:72761211-72761212	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151020696	chr9:72761244-72761245	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573091459	chr9:72761282-72761283	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139619707	chr9:72761289-72761290	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368604923	chr9:72761339-72761340	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528980236	chr9:72761397-72761398	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187212553	chr9:72761406-72761407	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190532787	chr9:72761409-72761410	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182489469	chr9:72761436-72761437	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552691600	chr9:72761442-72761443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149726376	chr9:72761444-72761445	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188456743	chr9:72761450-72761451	Strong transcription Weak 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:83 , 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	chr9:72753200-72761000	Weak transcription	Ovary	ovary
21	chr9:72753800-72770000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:72754800-72764200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr9:72755000-72761600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:72755400-72765800	Weak transcription	Left Ventricle	heart
25	chr9:72755800-72761800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:72757600-72761000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:72757800-72761600	Strong transcription	HSMMtube	muscle
28	chr9:72758200-72760400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:72758400-72761200	Strong transcription	HSMM	muscle
30	chr9:72758800-72761600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:72758800-72772200	Weak transcription	Colonic Mucosa	Colon
32	chr9:72759000-72761000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:72759000-72763800	Strong transcription	Colon Smooth Muscle	Colon
34	chr9:72759200-72761600	Strong transcription	Rectal Smooth Muscle	rectum
35	chr9:72759200-72774400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
37	chr9:72759800-72774000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:72759800-72792200	Weak transcription	HMEC	breast
39	chr9:72760000-72768600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:72760400-72765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:72761000-72761400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:72761000-72761600	Strong transcription	Ovary	ovary
44	chr9:72761000-72767400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:72761200-72768400	Weak transcription	HSMM	muscle
46	chr9:72761600-72762200	Weak transcription	Ovary	ovary
47	chr9:72761600-72762400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:72761600-72762400	Weak transcription	HSMMtube	muscle
49	chr9:72761600-72763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:72761600-72766000	Weak transcription	Rectal Smooth Muscle	rectum

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