Variant report

Variant	esv1795493
Chromosome Location	chr7:19936626-19939587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MACC1-1	chr7:19938142-19938370	NONHSAT119395

Extended variants
information (count: 93 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186257240	chr7:19938176-19938177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs146691293	chr7:19938181-19938182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539256385	chr7:19938182-19938183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs547975464	chr7:19938184-19938185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs566383392	chr7:19938185-19938186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs536898142	chr7:19938197-19938198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs374747824	chr7:19938241-19938242	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs10242012	chr7:19938249-19938250	ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375506156	chr7:19938260-19938261	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs576421758	chr7:19938263-19938264	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs191947095	chr7:19938266-19938267	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559035463	chr7:19938309-19938310	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs184157842	chr7:19938311-19938312	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs540846270	chr7:19938326-19938327	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs10271196	chr7:19938329-19938330	ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574397569	chr7:19938330-19938331	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs187458049	chr7:19938331-19938332	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs368986457	chr7:19938365-19938366	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs190496914	chr7:19938434-19938435	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551866649	chr7:19938453-19938454	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139124721	chr7:19938467-19938468	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528152693	chr7:19938469-19938470	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548012254	chr7:19938480-19938481	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112003530	chr7:19938487-19938488	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566323635	chr7:19938500-19938501	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536829208	chr7:19938501-19938502	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564122102	chr7:19938516-19938517	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548897535	chr7:19938559-19938560	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534450722	chr7:19938571-19938572	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77550176	chr7:19938605-19938606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537472038	chr7:19938606-19938607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370443511	chr7:19938607-19938608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373729489	chr7:19938642-19938643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73682227	chr7:19938648-19938649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576935806	chr7:19938651-19938652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534751009	chr7:19938673-19938674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554636402	chr7:19938690-19938691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10245287	chr7:19938738-19938739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570008363	chr7:19938763-19938764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541645180	chr7:19938790-19938791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371340271	chr7:19938810-19938811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563628939	chr7:19938819-19938820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575413609	chr7:19938829-19938830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529487969	chr7:19938838-19938839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151011788	chr7:19938841-19938842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549177147	chr7:19938843-19938844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564023544	chr7:19938860-19938861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139222366	chr7:19938866-19938867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10650134	chr7:19938867-19938868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs67755955	chr7:19938868-19938869	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19938200-19938400	Enhancers	Colon Smooth Muscle	Colon
2	chr7:19938200-19938600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr7:19938400-19939200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:19938600-19939600	Enhancers	A549	lung
5	chr7:19939000-19939200	Enhancers	Colon Smooth Muscle	Colon
6	chr7:19939000-19939400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:19939000-19939800	Enhancers	NHDF-Ad	bronchial
8	chr7:19939000-19940000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:19939000-19940000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:19939000-19940000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:19939200-19939400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:19939200-19939600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:19939400-19955400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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