Variant report

Variant	esv3449679
Chromosome Location	chr13:30216652-30223050
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:

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: 61 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376163038	chr13:30221619-30221620	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371072480	chr13:30221738-30221739	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374608857	chr13:30221838-30221839	Active TSS Weak transcription Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs117344461	chr13:30221875-30221876	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs9508517	chr13:30221888-30221889	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112955647	chr13:30221913-30221914	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370563069	chr13:30221927-30221928	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142940152	chr13:30221944-30221945	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150526305	chr13:30221987-30221988	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs9579439	chr13:30222006-30222007	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554680014	chr13:30222095-30222096	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34558976	chr13:30222096-30222097	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs66890424	chr13:30222097-30222098	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143968253	chr13:30222106-30222107	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565098480	chr13:30222117-30222118	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71090270	chr13:30222118-30222119	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536840879	chr13:30222143-30222144	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183862621	chr13:30222149-30222150	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139526653	chr13:30222175-30222176	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78006785	chr13:30222191-30222192	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545870638	chr13:30222266-30222267	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2669028	chr13:30222302-30222303	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528238915	chr13:30222311-30222312	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200648443	chr13:30222312-30222313	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548194947	chr13:30222319-30222320	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112739954	chr13:30222320-30222321	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541277334	chr13:30222364-30222365	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144151280	chr13:30222367-30222368	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530392444	chr13:30222375-30222376	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2776418	chr13:30222399-30222400	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570191253	chr13:30222429-30222430	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538844349	chr13:30222438-30222439	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552394386	chr13:30222460-30222461	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565819518	chr13:30222483-30222484	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147773698	chr13:30222504-30222505	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554919454	chr13:30222520-30222521	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375228540	chr13:30222561-30222562	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574754683	chr13:30222564-30222565	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537307982	chr13:30222578-30222579	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141166664	chr13:30222584-30222585	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192683680	chr13:30222603-30222604	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs548876706	chr13:30222606-30222607	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559623543	chr13:30222679-30222680	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182755733	chr13:30222696-30222697	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541968784	chr13:30222733-30222734	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186924218	chr13:30222755-30222756	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs559118248	chr13:30222770-30222771	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191826155	chr13:30222781-30222782	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12866053	chr13:30222822-30222823	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184051097	chr13:30222869-30222870	Enhancers Weak transcription Active TSS	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:29 , 50 per page) page: 1

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

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