Variant report

Variant	nsv984065
Chromosome Location	chr15:45289085-45295878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:45295871-45296253	GM12878	blood:	n/a	n/a
2	BATF	chr15:45295818-45296500	GM12878	blood:	n/a	n/a
3	BCL11A	chr15:45295798-45296464	GM12878	blood:	n/a	n/a
4	BCLAF1	chr15:45295867-45296413	GM12878	blood:	n/a	n/a
5	CEBPB	chr15:45295774-45296465	GM12878	blood:	n/a	n/a
6	CTCF	chr15:45290485-45290632	Pancreas_OC	pancreas:	n/a	n/a
7	FOXA1	chr15:45295852-45296254	HepG2	liver:	n/a	n/a
8	FOXA1	chr15:45295866-45296194	HepG2	liver:	n/a	n/a
9	FOXA1	chr15:45295863-45296123	HepG2	liver:	n/a	n/a
10	FOXA1	chr15:45295761-45296552	HepG2	liver:	n/a	n/a
11	FOXM1	chr15:45295841-45296417	GM12878	blood:	n/a	n/a
12	FOXM1	chr15:45295804-45296465	GM12878	blood:	n/a	n/a
13	HNF4A	chr15:45293452-45293693	HepG2	liver:	n/a	n/a
14	HNF4A	chr15:45293465-45293762	HepG2	liver:	n/a	n/a
15	HNF4G	chr15:45293424-45293752	HepG2	liver:	n/a	chr15:45293557-45293572
16	HNF4G	chr15:45293462-45293704	HepG2	liver:	n/a	chr15:45293557-45293572
17	IRF4	chr15:45295826-45296476	GM12878	blood:	n/a	n/a
18	MTA3	chr15:45295877-45296369	GM12878	blood:	n/a	n/a
19	MTA3	chr15:45295859-45296383	GM12878	blood:	n/a	n/a
20	NFIC	chr15:45295813-45296403	GM12878	blood:	n/a	n/a
21	NFIC	chr15:45295595-45297240	GM12878	blood:	n/a	n/a
22	PAX5	chr15:45295790-45296497	GM12878	blood:	n/a	n/a
23	PAX5	chr15:45295798-45296240	GM12878	blood:	n/a	n/a
24	PAX5	chr15:45295850-45296187	GM12878	blood:	n/a	n/a
25	PML	chr15:45295867-45296426	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:45295074-45295516	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr15:45295808-45295843	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:45295794-45296433	GM12891	blood:	n/a	n/a
29	POLR2A	chr15:45295783-45295918	Hela-S3	cervix:	n/a	n/a
30	POU2F2	chr15:45295765-45296568	GM12878	blood:	n/a	n/a
31	RUNX3	chr15:45295870-45296585	GM12878	blood:	n/a	n/a
32	SP1	chr15:45293361-45293828	HepG2	liver:	n/a	n/a
33	SP1	chr15:45295769-45296214	GM12878	blood:	n/a	n/a
34	SPI1	chr15:45295734-45296547	GM12878	blood:	n/a	n/a
35	SPI1	chr15:45291362-45291630	GM12878	blood:	n/a	n/a
36	STAT3	chr15:45291611-45291633	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU1-78P	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184305794	chr15:45292654-45292655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576311088	chr15:45292655-45292656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541859499	chr15:45292657-45292658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561743357	chr15:45292676-45292677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572504152	chr15:45292683-45292684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373563875	chr15:45292686-45292687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148801631	chr15:45292693-45292694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532953226	chr15:45292797-45292798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549978050	chr15:45292824-45292825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538240492	chr15:45292847-45292848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112369233	chr15:45292849-45292850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111590833	chr15:45292859-45292860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375490654	chr15:45292879-45292880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547523570	chr15:45292893-45292894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369639742	chr15:45292962-45292963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111689076	chr15:45292963-45292964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376100930	chr15:45292999-45293000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1628346	chr15:45293004-45293005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536215183	chr15:45293152-45293153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150886359	chr15:45293153-45293154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1626702	chr15:45293168-45293169	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs570137126	chr15:45293206-45293207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537671873	chr15:45293207-45293208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551155469	chr15:45293214-45293215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571048522	chr15:45293227-45293228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113502966	chr15:45293232-45293233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556328310	chr15:45293245-45293246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576374269	chr15:45293265-45293266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577511872	chr15:45293322-45293323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535704326	chr15:45293331-45293332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555350252	chr15:45293410-45293411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572313681	chr15:45293474-45293475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541533280	chr15:45293484-45293485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3110585	chr15:45293557-45293558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143180871	chr15:45293560-45293561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57158125	chr15:45293581-45293582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543684474	chr15:45293596-45293597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115132638	chr15:45293602-45293603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145450857	chr15:45293634-45293635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553348799	chr15:45293700-45293701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549258631	chr15:45293715-45293716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559315702	chr15:45293737-45293738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11634878	chr15:45293762-45293763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371026969	chr15:45293836-45293837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528047640	chr15:45293870-45293871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551335945	chr15:45293940-45293941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571293946	chr15:45293942-45293943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188212592	chr15:45293950-45293951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549964426	chr15:45293966-45293967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569875096	chr15:45294011-45294012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45292600-45294600	Enhancers	HepG2	liver
2	chr15:45292800-45297200	Enhancers	Liver	Liver
3	chr15:45293000-45293200	Enhancers	Fetal Intestine Large	intestine
4	chr15:45293000-45293200	Enhancers	Fetal Intestine Small	intestine
5	chr15:45293200-45296000	Weak transcription	Fetal Intestine Large	intestine
6	chr15:45293600-45293800	Enhancers	Stomach Mucosa	stomach
7	chr15:45293800-45294400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:45294200-45296400	Enhancers	Brain Anterior Caudate	brain
9	chr15:45294200-45296400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr15:45294400-45296200	Enhancers	Brain Substantia Nigra	brain
11	chr15:45294600-45294800	Enhancers	Brain Hippocampus Middle	brain
12	chr15:45294600-45295000	Weak transcription	HepG2	liver
13	chr15:45294800-45295400	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:45294800-45296000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr15:45294800-45296200	Enhancers	Brain Angular Gyrus	brain
16	chr15:45295000-45296200	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:45295000-45297400	Enhancers	HepG2	liver
18	chr15:45295200-45296000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:45295400-45296400	Enhancers	Brain Hippocampus Middle	brain
20	chr15:45295600-45297400	Enhancers	GM12878-XiMat	blood

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