Variant report

Variant	esv3422004
Chromosome Location	chr13:30214852-30223050
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	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:
2	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTUS2-3	chr13:30221772-30221861	NONHSAT032746
2	lnc-MTUS2-3	chr13:30221778-30221861	NONHSAT032747

Extended variants
information (count: 94 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75088680	chr13:30214854-30214855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562948542	chr13:30214857-30214858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549758085	chr13:30214869-30214870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527787352	chr13:30214890-30214891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189277691	chr13:30214929-30214930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180900464	chr13:30214936-30214937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552182865	chr13:30214947-30214948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563035726	chr13:30214961-30214962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372616716	chr13:30214965-30214966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377210896	chr13:30214970-30214971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185676871	chr13:30214996-30214997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34097812	chr13:30215009-30215010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534462261	chr13:30215031-30215032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142257800	chr13:30215117-30215118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9508515	chr13:30215136-30215137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536847460	chr13:30215150-30215151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556518760	chr13:30215163-30215164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146406205	chr13:30215169-30215170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561167649	chr13:30215186-30215187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11841439	chr13:30215221-30215222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148553943	chr13:30215222-30215223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs517178	chr13:30215291-30215292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527910277	chr13:30215337-30215338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547467724	chr13:30215359-30215360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529985201	chr13:30215396-30215397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200366010	chr13:30215436-30215437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201367617	chr13:30215437-30215438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543589805	chr13:30215442-30215443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532063405	chr13:30215448-30215449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190442548	chr13:30215450-30215451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567256624	chr13:30215456-30215457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76485479	chr13:30215552-30215553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182968036	chr13:30215586-30215587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376163038	chr13:30221619-30221620	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371072480	chr13:30221738-30221739	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374608857	chr13:30221838-30221839	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs117344461	chr13:30221875-30221876	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9508517	chr13:30221888-30221889	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112955647	chr13:30221913-30221914	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370563069	chr13:30221927-30221928	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142940152	chr13:30221944-30221945	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150526305	chr13:30221987-30221988	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9579439	chr13:30222006-30222007	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554680014	chr13:30222095-30222096	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34558976	chr13:30222096-30222097	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs66890424	chr13:30222097-30222098	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143968253	chr13:30222106-30222107	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565098480	chr13:30222117-30222118	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71090270	chr13:30222118-30222119	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536840879	chr13:30222143-30222144	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30214600-30215000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr13:30214800-30215600	Enhancers	HUVEC	blood vessel
3	chr13:30220800-30226800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:30221600-30222000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:30221600-30222000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:30221600-30222000	Active TSS	Primary T cells from cord blood	blood
7	chr13:30221600-30222200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr13:30221600-30222400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr13:30221600-30222400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:30221600-30222600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr13:30221600-30222800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:30221600-30222800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:30221800-30222000	Bivalent/Poised TSS	HUVEC	blood vessel
14	chr13:30221800-30222200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr13:30221800-30222200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr13:30221800-30222200	Active TSS	Fetal Thymus	thymus
17	chr13:30221800-30222400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:30221800-30223000	Active TSS	Primary T cells fromperipheralblood	blood
19	chr13:30222000-30222400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr13:30222000-30222600	Weak transcription	Primary T cells from cord blood	blood
21	chr13:30222200-30222400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr13:30222200-30222400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr13:30222400-30222600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr13:30222400-30223200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:30222400-30229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:30222600-30223000	Enhancers	Primary T cells from cord blood	blood
27	chr13:30222800-30223200	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:30223000-30223400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:30223000-30223400	Active TSS	Duodenum Mucosa	Duodenum

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