Variant report

Variant	nsv977711
Chromosome Location	chr15:45362652-45373399
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	BHLHE40	chr15:45365809-45366054	HepG2	liver:	n/a	n/a
2	BHLHE40	chr15:45368166-45368475	HepG2	liver:	n/a	n/a
3	BHLHE40	chr15:45372029-45372129	K562	blood:	n/a	n/a
4	CTCF	chr15:45365583-45365632	GM10248	blood:	n/a	n/a
5	EP300	chr15:45371910-45372112	K562	blood:	n/a	n/a
6	EP300	chr15:45369321-45370166	SK-N-SH	brain:	n/a	n/a
7	EP300	chr15:45369585-45369917	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr15:45369562-45369894	SK-N-SH_RA	brain:	n/a	n/a
9	FOSL2	chr15:45366866-45367126	HepG2	liver:	n/a	n/a
10	FOSL2	chr15:45369574-45370281	HepG2	liver:	n/a	n/a
11	FOSL2	chr15:45364155-45364541	HepG2	liver:	n/a	n/a
12	FOSL2	chr15:45364141-45364544	HepG2	liver:	n/a	n/a
13	FOSL2	chr15:45367438-45368554	HepG2	liver:	n/a	chr15:45368075-45368085 chr15:45368075-45368085
14	FOSL2	chr15:45365816-45366054	HepG2	liver:	n/a	n/a
15	FOSL2	chr15:45367646-45368561	HepG2	liver:	n/a	chr15:45368075-45368085 chr15:45368075-45368085
16	FOXA1	chr15:45364026-45364643	HepG2	liver:	n/a	n/a
17	FOXA1	chr15:45367604-45368715	HepG2	liver:	n/a	n/a
18	FOXA1	chr15:45366077-45366456	HepG2	liver:	n/a	n/a
19	FOXA2	chr15:45367762-45367902	HepG2	liver:	n/a	n/a
20	FOXA2	chr15:45364168-45364573	A549	lung:	n/a	n/a
21	FOXA2	chr15:45364140-45364532	A549	lung:	n/a	n/a
22	GATA2	chr15:45363824-45364116	K562	blood:	n/a	chr15:45363927-45363936
23	GATA2	chr15:45371828-45372233	K562	blood:	n/a	chr15:45372049-45372058 chr15:45372045-45372061
24	GATA2	chr15:45369568-45370428	SH-SY5Y	brain:	n/a	n/a
25	HEY1	chr15:45367580-45368415	HepG2	liver:	n/a	chr15:45368091-45368100
26	HEY1	chr15:45367545-45368534	HepG2	liver:	n/a	chr15:45368091-45368100
27	HNF4A	chr15:45367747-45367924	HepG2	liver:	n/a	chr15:45367865-45367880 chr15:45367860-45367872 chr15:45367858-45367873
28	JUND	chr15:45364238-45364435	HepG2	liver:	n/a	n/a
29	JUND	chr15:45364134-45364571	HepG2	liver:	n/a	n/a
30	JUND	chr15:45371932-45372224	K562	blood:	n/a	chr15:45372151-45372161 chr15:45372151-45372161 chr15:45372152-45372160 chr15:45372151-45372161
31	JUND	chr15:45367667-45368131	HepG2	liver:	n/a	chr15:45368075-45368085 chr15:45368075-45368085
32	JUND	chr15:45367616-45368534	HepG2	liver:	n/a	chr15:45368075-45368085 chr15:45368075-45368085
33	JUND	chr15:45368151-45368492	HepG2	liver:	n/a	n/a
34	MAFK	chr15:45372040-45372127	K562	blood:	n/a	n/a
35	MYBL2	chr15:45364091-45364574	HepG2	liver:	n/a	n/a
36	MYBL2	chr15:45367632-45368678	HepG2	liver:	n/a	n/a
37	MYBL2	chr15:45367564-45368424	HepG2	liver:	n/a	n/a
38	MYC	chr15:45362850-45362891	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr15:45368097-45368101	HepG2	liver:	n/a	n/a
40	MYC	chr15:45368140-45368411	HepG2	liver:	n/a	n/a
41	MYC	chr15:45367822-45367934	HepG2	liver:	n/a	n/a
42	MYC	chr15:45367962-45367988	HepG2	liver:	n/a	n/a
43	POLR2A	chr15:45369460-45370784	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr15:45367913-45368381	HepG2	liver:	n/a	n/a
45	POLR2A	chr15:45367596-45367855	HepG2	liver:	n/a	n/a
46	POLR2A	chr15:45366752-45366872	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:45369755-45370586	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr15:45369914-45370586	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:45367580-45368364	HepG2	liver:	n/a	n/a
50	POLR2A	chr15:45367566-45368406	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUOX2-1	chr15:45366019-45366246	ENSG00000259352.1
2	lnc-DUOX2-1	chr15:45365690-45365887	ENSG00000259352.1

Variant related genes	Relation type
SORD	TF binding region
ENSG00000259352	TF binding region

Extended variants
information (count: 376 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145492190	chr15:45362659-45362660	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567512671	chr15:45362684-45362685	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377053374	chr15:45362700-45362701	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536597867	chr15:45362717-45362718	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553231478	chr15:45362894-45362895	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573224146	chr15:45362905-45362906	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545089363	chr15:45362906-45362907	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558884105	chr15:45362963-45362964	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575651925	chr15:45362991-45362992	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544675604	chr15:45363031-45363032	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142767969	chr15:45363072-45363073	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112730067	chr15:45363112-45363113	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146643566	chr15:45363115-45363116	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185899200	chr15:45363143-45363144	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560169641	chr15:45363178-45363179	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375994967	chr15:45363185-45363186	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532399976	chr15:45363207-45363208	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551905415	chr15:45363234-45363235	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2470663	chr15:45363301-45363302	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189968926	chr15:45363337-45363338	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs58822790	chr15:45363341-45363342	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111842537	chr15:45363352-45363353	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs137964349	chr15:45363371-45363372	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs567549458	chr15:45363381-45363382	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs374425603	chr15:45363397-45363398	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2437868	chr15:45363424-45363425	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs138974220	chr15:45363483-45363484	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181261368	chr15:45363504-45363505	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539274413	chr15:45363552-45363553	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs558690313	chr15:45363571-45363572	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575585123	chr15:45363581-45363582	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4775734	chr15:45363618-45363619	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369619175	chr15:45363634-45363635	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4775735	chr15:45363653-45363654	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs574716749	chr15:45363659-45363660	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2467822	chr15:45363673-45363674	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2467823	chr15:45363682-45363683	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs371468241	chr15:45363695-45363696	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540440919	chr15:45363698-45363699	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546246224	chr15:45363717-45363718	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2467824	chr15:45363729-45363730	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372004145	chr15:45363773-45363774	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535343513	chr15:45363782-45363783	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532305307	chr15:45363796-45363797	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs546071651	chr15:45363811-45363812	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562394204	chr15:45363884-45363885	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200544697	chr15:45364007-45364008	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142980857	chr15:45364031-45364032	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs561463590	chr15:45364032-45364033	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs527357707	chr15:45364174-45364175	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:45319200-45363200	Weak transcription	Fetal Thymus	thymus
3	chr15:45319800-45363600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:45329800-45365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:45331400-45369600	Weak transcription	Pancreas	Pancrea
6	chr15:45337400-45365400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:45338000-45363800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:45338400-45365200	Weak transcription	HSMM	muscle
9	chr15:45341200-45363600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:45341400-45362800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:45341600-45365800	Weak transcription	Fetal Lung	lung
12	chr15:45341800-45363000	Weak transcription	Gastric	stomach
13	chr15:45341800-45363200	Weak transcription	Brain Substantia Nigra	brain
14	chr15:45341800-45366600	Weak transcription	Thymus	Thymus
15	chr15:45342800-45363200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:45343200-45363400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:45345000-45374800	Weak transcription	Aorta	Aorta
18	chr15:45345400-45369400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:45345600-45364800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:45348400-45363200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:45350600-45366400	Weak transcription	A549	lung
22	chr15:45351000-45363400	Weak transcription	Brain Anterior Caudate	brain
23	chr15:45351000-45363600	Weak transcription	Primary B cells from cord blood	blood
24	chr15:45351200-45363200	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:45352000-45366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:45352000-45369800	Weak transcription	Lung	lung
27	chr15:45352200-45363200	Weak transcription	Adipose Nuclei	Adipose
28	chr15:45353600-45364400	Weak transcription	GM12878-XiMat	blood
29	chr15:45353600-45365200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr15:45353600-45365600	Weak transcription	Small Intestine	intestine
31	chr15:45354200-45363000	Weak transcription	Primary T cells from cord blood	blood
32	chr15:45354200-45363200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:45354400-45363400	Weak transcription	Brain Germinal Matrix	brain
34	chr15:45354600-45363000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:45354800-45365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:45354800-45370400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:45355000-45364800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:45356600-45363800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:45356800-45363200	Strong transcription	Liver	Liver
40	chr15:45356800-45363400	Weak transcription	HSMMtube	muscle
41	chr15:45357000-45365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:45357600-45364000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:45357800-45363600	Strong transcription	Fetal Stomach	stomach
44	chr15:45357800-45364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:45359800-45364000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:45360000-45363800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:45360200-45363800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:45360400-45363800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr15:45360600-45363200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:45360600-45365600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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