Variant report

Variant	nsv980
Chromosome Location	chr13:30200197-30236915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30167314..30169877-chr13:30230772..30232474,2	MCF-7	breast:
2	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:
3	chr13:30165310..30167432-chr13:30231633..30234187,2	K562	blood:
4	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC7A1-4	chr13:30229207-30229615	NONHSAT032748
2	lnc-MTUS2-3	chr13:30221772-30221861	NONHSAT032746
3	lnc-MTUS2-3	chr13:30221778-30221861	NONHSAT032747
4	lnc-MTUS2-3	chr13:30229207-30229578	NONHSAT032747
5	lnc-MTUS2-3	chr13:30229088-30229714	NONHSAT032746

No data

Variant related genes	Relation type
ENSG00000139514	chromatin interactions

Extended variants
information (count: 703 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35243951	chr13:30210407-30210408	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550161267	chr13:30210425-30210426	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs570325049	chr13:30210481-30210482	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs538998356	chr13:30210494-30210495	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs140747101	chr13:30210500-30210501	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs565956824	chr13:30210511-30210512	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs151094708	chr13:30210525-30210526	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs189506454	chr13:30210536-30210537	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs554654365	chr13:30210558-30210559	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs577669975	chr13:30210564-30210565	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs574447599	chr13:30210567-30210568	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs543411651	chr13:30210613-30210614	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs557118851	chr13:30210635-30210636	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs544735810	chr13:30210641-30210642	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs577049167	chr13:30210646-30210647	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs374666648	chr13:30210647-30210648	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545804572	chr13:30210660-30210661	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs11619313	chr13:30210685-30210686	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs528308952	chr13:30210785-30210786	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs180787996	chr13:30210811-30210812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186223701	chr13:30210849-30210850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1576607	chr13:30210862-30210863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550540250	chr13:30210872-30210873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538060594	chr13:30210963-30210964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570380946	chr13:30210980-30210981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138961100	chr13:30211049-30211050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190848296	chr13:30211051-30211052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534894134	chr13:30211064-30211065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75669723	chr13:30211088-30211089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554792985	chr13:30211111-30211112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77568958	chr13:30211130-30211131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568208834	chr13:30211147-30211148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537180651	chr13:30211151-30211152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142787150	chr13:30211180-30211181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578246550	chr13:30214612-30214613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138237899	chr13:30214620-30214621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577998838	chr13:30214626-30214627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117582443	chr13:30214630-30214631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574303159	chr13:30214631-30214632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369999984	chr13:30214653-30214654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542712079	chr13:30214725-30214726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563001144	chr13:30214727-30214728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576505132	chr13:30214752-30214753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187307747	chr13:30214766-30214767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149553665	chr13:30214772-30214773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527558993	chr13:30214774-30214775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547310527	chr13:30214797-30214798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77237606	chr13:30214803-30214804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138992238	chr13:30214823-30214824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75088680	chr13:30214854-30214855	Enhancers	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30210400-30210600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:30210400-30211200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30210600-30210800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr13:30214600-30215000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr13:30214800-30215600	Enhancers	HUVEC	blood vessel
6	chr13:30220800-30226800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:30221600-30222000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr13:30221600-30222000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:30221600-30222000	Active TSS	Primary T cells from cord blood	blood
10	chr13:30221600-30222200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr13:30221600-30222400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr13:30221600-30222400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:30221600-30222600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr13:30221600-30222800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:30221600-30222800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30221800-30222000	Bivalent/Poised TSS	HUVEC	blood vessel
17	chr13:30221800-30222200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr13:30221800-30222200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr13:30221800-30222200	Active TSS	Fetal Thymus	thymus
20	chr13:30221800-30222400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:30221800-30223000	Active TSS	Primary T cells fromperipheralblood	blood
22	chr13:30222000-30222400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr13:30222000-30222600	Weak transcription	Primary T cells from cord blood	blood
24	chr13:30222200-30222400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:30222200-30222400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr13:30222400-30222600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr13:30222400-30223200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:30222400-30229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:30222600-30223000	Enhancers	Primary T cells from cord blood	blood
30	chr13:30222800-30223200	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:30223000-30223400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:30223000-30223400	Active TSS	Duodenum Mucosa	Duodenum
35	chr13:30223200-30223400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr13:30224600-30225000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:30224600-30225200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:30228000-30229200	Enhancers	NHDF-Ad	bronchial
39	chr13:30228000-30230000	Enhancers	NHLF	lung
40	chr13:30228000-30230000	Enhancers	Osteobl	bone
41	chr13:30228000-30230600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:30228200-30230000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:30228200-30230000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:30228400-30233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:30229000-30229800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:30229200-30229600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr13:30229200-30229800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:30229200-30229800	Flanking Active TSS	NHDF-Ad	bronchial
49	chr13:30229200-30230000	Enhancers	HSMM	muscle
50	chr13:30229200-30230000	Enhancers	NH-A	brain

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