Variant report

Variant	nsv470155
Chromosome Location	chr7:19421606-19452649
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	chr7:19429082..19431210-chr7:19440295..19442664,2	K562	blood:
2	chr7:19429082..19431210-chr7:19440295..19442664,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-5	chr7:19444955-19444993	ENSG00000223838
2	lnc-HDAC9-5	chr7:19443324-19443386	ENSG00000223838

Extended variants
information (count: 1106 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17437711	chr7:19421606-19421607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371846097	chr7:19421631-19421632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556242561	chr7:19421632-19421633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569167739	chr7:19421650-19421651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545092955	chr7:19421680-19421681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561915832	chr7:19421685-19421686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539750617	chr7:19421686-19421687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560562476	chr7:19421692-19421693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527669344	chr7:19421713-19421714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543344475	chr7:19421716-19421717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142809345	chr7:19421781-19421782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527795491	chr7:19421807-19421808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550536358	chr7:19421820-19421821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531942511	chr7:19421868-19421869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547518971	chr7:19421888-19421889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77601400	chr7:19421897-19421898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376028113	chr7:19421941-19421942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370433260	chr7:19421963-19421964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571383092	chr7:19421968-19421969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184465841	chr7:19422034-19422035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151104631	chr7:19422069-19422070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565705332	chr7:19422079-19422080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141111044	chr7:19422085-19422086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150236844	chr7:19422124-19422125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113441189	chr7:19422142-19422143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570588682	chr7:19422162-19422163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539870023	chr7:19422171-19422172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536862654	chr7:19422195-19422196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558301544	chr7:19422199-19422200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576940401	chr7:19422203-19422204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551955384	chr7:19422235-19422236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549899262	chr7:19422243-19422244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189264271	chr7:19422253-19422254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569143843	chr7:19422278-19422279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34336542	chr7:19422311-19422312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137858584	chr7:19422406-19422407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376658552	chr7:19422408-19422409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201263179	chr7:19422409-19422410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10950721	chr7:19422419-19422420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138976687	chr7:19422507-19422508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140898660	chr7:19422508-19422509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532011274	chr7:19422512-19422513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372767894	chr7:19422534-19422535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554829287	chr7:19422535-19422536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544054302	chr7:19422566-19422567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565506576	chr7:19422574-19422575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532584903	chr7:19422593-19422594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75114838	chr7:19422599-19422600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574375950	chr7:19422623-19422624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565635596	chr7:19422660-19422661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19417600-19422600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:19417800-19422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:19421200-19422800	Weak transcription	Fetal Kidney	kidney
4	chr7:19422600-19423800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:19422800-19423400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:19423000-19423200	Enhancers	Fetal Kidney	kidney
7	chr7:19428000-19429000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:19429000-19429200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:19429200-19430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:19429600-19429800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:19430000-19431600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:19430400-19430800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:19430400-19430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:19430600-19432800	Enhancers	Osteobl	bone
15	chr7:19430800-19431800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:19431400-19432400	Enhancers	HUVEC	blood vessel
17	chr7:19431600-19432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:19431600-19432800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:19431600-19432800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:19431600-19432800	Enhancers	NH-A	brain
21	chr7:19431800-19432400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:19431800-19432600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:19431800-19432600	Enhancers	HSMM	muscle
24	chr7:19431800-19432800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:19432200-19432600	Enhancers	NHDF-Ad	bronchial
26	chr7:19432400-19436800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:19432600-19437200	Weak transcription	HSMM	muscle
28	chr7:19432600-19437400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:19432600-19437400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:19432600-19437400	Weak transcription	NHDF-Ad	bronchial
31	chr7:19432800-19437200	Weak transcription	Osteobl	bone
32	chr7:19432800-19437400	Weak transcription	NH-A	brain
33	chr7:19432800-19441400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:19436800-19437200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:19437000-19438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:19437000-19438600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:19437000-19438600	Enhancers	Dnd41	blood
38	chr7:19437000-19439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:19437200-19437400	Enhancers	Osteobl	bone
40	chr7:19437200-19437600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:19437200-19437600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:19437200-19437600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr7:19437200-19437800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:19437200-19437800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr7:19437200-19437800	Enhancers	HSMM	muscle
46	chr7:19437200-19438000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:19437200-19438200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:19437200-19438200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:19437200-19438400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:19437400-19437600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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