Variant report

Variant	esv21425
Chromosome Location	chr7:19613957-19628138
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	chr7:19610590..19613391-chr7:19614778..19616457,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-5	chr7:19615910-19616041	ENSG00000223838
2	lnc-HDAC9-5	chr7:19618152-19618229	ENSG00000223838

Extended variants
information (count: 356 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564351212	chr7:19614025-19614026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184378648	chr7:19614034-19614035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540746552	chr7:19614052-19614053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188176538	chr7:19614066-19614067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529097901	chr7:19614068-19614069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201187424	chr7:19614077-19614078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567097955	chr7:19614078-19614079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112501688	chr7:19614079-19614080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78909083	chr7:19614086-19614087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373060125	chr7:19614094-19614095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2892936	chr7:19614143-19614144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562787216	chr7:19614160-19614161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78104287	chr7:19614169-19614170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551331421	chr7:19614176-19614177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77764495	chr7:19614203-19614204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533847322	chr7:19614207-19614208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180929637	chr7:19614312-19614313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567066069	chr7:19614315-19614316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544449321	chr7:19614359-19614360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555114180	chr7:19614367-19614368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535642183	chr7:19614396-19614397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372765984	chr7:19614402-19614403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377348089	chr7:19614414-19614415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6964210	chr7:19614440-19614441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539764703	chr7:19614441-19614442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186302300	chr7:19614455-19614456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6461445	chr7:19614468-19614469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143083330	chr7:19614486-19614487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562154667	chr7:19614492-19614493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151133262	chr7:19614497-19614498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544400200	chr7:19614509-19614510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62448111	chr7:19614512-19614513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62448112	chr7:19614515-19614516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6461446	chr7:19614538-19614539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs367605255	chr7:19614562-19614563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35043205	chr7:19614564-19614565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560049984	chr7:19614570-19614571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62448113	chr7:19614609-19614610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548606640	chr7:19614620-19614621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191045369	chr7:19614670-19614671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531331926	chr7:19614671-19614672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6461447	chr7:19614736-19614737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs569366219	chr7:19614768-19614769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112165291	chr7:19614778-19614779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75508507	chr7:19614780-19614781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199830460	chr7:19614781-19614782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529735586	chr7:19614803-19614804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10224067	chr7:19614825-19614826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558169585	chr7:19614838-19614839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116966107	chr7:19614851-19614852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19602400-19618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:19612800-19615600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:19615000-19615600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:19615000-19616400	Enhancers	HMEC	breast
5	chr7:19615600-19616400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:19617600-19618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:19619600-19620000	Enhancers	HSMM	muscle
8	chr7:19623000-19624000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:19625600-19626200	Enhancers	Muscle Satellite Cultured Cells	--

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