Variant report

Variant	esv3379973
Chromosome Location	chr15:49823709-49868102
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:49848023..49849744-chr15:49849965..49852877,2	MCF-7	breast:
2	chr15:49848023..49849744-chr15:49849965..49852877,2	MCF-7	breast:
3	chr15:49857690..49860916-chr15:49911493..49914714,3	MCF-7	breast:
4	chr15:49825606..49827516-chr15:49828795..49830668,2	MCF-7	breast:
5	chr15:49849928..49852326-chr15:49917906..49919869,2	MCF-7	breast:
6	chr15:49829190..49832180-chr15:49833783..49835908,3	MCF-7	breast:
7	chr15:49850123..49851824-chr15:49869687..49871274,2	MCF-7	breast:
8	chr15:49850414..49853063-chr15:49861863..49863640,2	MCF-7	breast:
9	chr15:49845853..49848692-chr15:49911908..49914705,2	MCF-7	breast:
10	chr15:49857009..49858910-chr15:49862176..49864573,2	K562	blood:
11	chr15:49850414..49853063-chr15:49861863..49863640,2	MCF-7	breast:
12	chr15:49829190..49832180-chr15:49833783..49835908,3	MCF-7	breast:
13	chr15:49825606..49827516-chr15:49828795..49830668,2	MCF-7	breast:
14	chr15:49857009..49858910-chr15:49862176..49864573,2	K562	blood:
15	chr15:49818239..49820246-chr15:49821405..49823735,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP8B4-1	chr15:49866935-49867306	NONHSAT042381
2	lnc-ATP8B4-1	chr15:49867058-49867306	NONHSAT042382

No data

Variant related genes	Relation type
ENSG00000104047	chromatin interactions
ENSG00000166262	chromatin interactions

Extended variants
information (count: 933 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556332388	chr15:49823735-49823736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528209267	chr15:49823760-49823761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190752475	chr15:49823874-49823875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561376050	chr15:49823894-49823895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528844222	chr15:49823945-49823946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552579390	chr15:49823954-49823955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142170986	chr15:49829013-49829014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10851478	chr15:49829019-49829020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs57421305	chr15:49829145-49829146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375606887	chr15:49829200-49829201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577410483	chr15:49829203-49829204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146349748	chr15:49829216-49829217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530387427	chr15:49829227-49829228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74950422	chr15:49829231-49829232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374119274	chr15:49829306-49829307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148168688	chr15:49829353-49829354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556175889	chr15:49829369-49829370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570163635	chr15:49829380-49829381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541889979	chr15:49829399-49829400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561023563	chr15:49829415-49829416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530916328	chr15:49829462-49829463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543390704	chr15:49829507-49829508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534464734	chr15:49829515-49829516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565183975	chr15:49829550-49829551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532261212	chr15:49829609-49829610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72729172	chr15:49829619-49829620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142002907	chr15:49829621-49829622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8034473	chr15:49829640-49829641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557704762	chr15:49829665-49829666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548286274	chr15:49829682-49829683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569585280	chr15:49829733-49829734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190915371	chr15:49829771-49829772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531712133	chr15:49829808-49829809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558218560	chr15:49829947-49829948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571133453	chr15:49829958-49829959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534951449	chr15:49829965-49829966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377759307	chr15:49829974-49829975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574668273	chr15:49830031-49830032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541953145	chr15:49830052-49830053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8035468	chr15:49830097-49830098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368973295	chr15:49830107-49830108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114867717	chr15:49830145-49830146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564286019	chr15:49830159-49830160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577085985	chr15:49830168-49830169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541305685	chr15:49830194-49830195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559615887	chr15:49830198-49830199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373361339	chr15:49830317-49830318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377148199	chr15:49830318-49830319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79556376	chr15:49830322-49830323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182625208	chr15:49830324-49830325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49821600-49824000	Enhancers	Hela-S3	cervix
2	chr15:49829000-49830400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:49830400-49830800	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:49830800-49831200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:49831200-49831800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
6	chr15:49831600-49832400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr15:49831800-49832400	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:49832400-49833600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:49846000-49846200	ZNF genes & repeats	Pancreas	Pancrea
10	chr15:49846600-49846800	Enhancers	Right Ventricle	heart
11	chr15:49846800-49850800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:49846800-49852800	Weak transcription	Right Ventricle	heart
13	chr15:49850400-49851600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:49850800-49851600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:49850800-49851600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr15:49850800-49851800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr15:49850800-49851800	Enhancers	Hela-S3	cervix
18	chr15:49851000-49851600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr15:49851000-49851800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr15:49851400-49851600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:49851400-49851600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:49851600-49851800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
23	chr15:49851800-49855200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:49855200-49856200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
25	chr15:49856200-49897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:49859600-49860200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr15:49861600-49868200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:49862600-49863400	Enhancers	Primary T cells from cord blood	blood
29	chr15:49862600-49869600	Weak transcription	Brain Angular Gyrus	brain
30	chr15:49863400-49864600	Weak transcription	Primary T cells from cord blood	blood
31	chr15:49863400-49874800	Weak transcription	Fetal Kidney	kidney
32	chr15:49863800-49865600	Weak transcription	Left Ventricle	heart
33	chr15:49863800-49865600	Weak transcription	Ovary	ovary
34	chr15:49863800-49881400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:49864000-49866400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:49864000-49873000	Weak transcription	HSMM	muscle
37	chr15:49864600-49865200	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr15:49864600-49866400	Weak transcription	Lung	lung
39	chr15:49864600-49866800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:49864600-49867000	Weak transcription	Fetal Stomach	stomach
41	chr15:49864600-49878200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:49864800-49865000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr15:49864800-49878600	Weak transcription	Primary B cells from cord blood	blood
44	chr15:49864800-49881600	Weak transcription	Brain Substantia Nigra	brain
45	chr15:49865000-49865200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr15:49865000-49866800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:49865000-49875400	Weak transcription	HSMMtube	muscle
48	chr15:49865000-49880400	Weak transcription	Fetal Lung	lung
49	chr15:49865200-49866400	Weak transcription	Primary T cells from cord blood	blood
50	chr15:49865200-49866800	Strong transcription	Primary hematopoietic stem cells	blood

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