Variant report

Variant	nsv945671
Chromosome Location	chr1:225242969-225311101
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	CBX3	chr1:225251481-225251774	K562	blood:	n/a	n/a
2	CEBPB	chr1:225308816-225309180	K562	blood:	n/a	chr1:225308986-225308997
3	CEBPB	chr1:225308834-225309187	ECC-1	luminal epithelium:	n/a	chr1:225308986-225308997
4	CEBPB	chr1:225302089-225302313	Hela-S3	cervix:	n/a	chr1:225302164-225302175
5	CEBPB	chr1:225308810-225309179	A549	lung:	n/a	chr1:225308986-225308997
6	CEBPB	chr1:225302065-225302276	HepG2	liver:	n/a	chr1:225302164-225302175
7	CEBPB	chr1:225308815-225309171	MCF-7	breast:	n/a	chr1:225308986-225308997
8	CEBPB	chr1:225308818-225309168	IMR90	lung:	n/a	chr1:225308986-225308997
9	CEBPB	chr1:225251396-225251573	HepG2	liver:	n/a	chr1:225251435-225251446
10	CEBPB	chr1:225308807-225309166	HepG2	liver:	n/a	chr1:225308986-225308997
11	CEBPB	chr1:225308838-225309244	A549	lung:	n/a	chr1:225308986-225308997
12	CEBPB	chr1:225308825-225309165	Hela-S3	cervix:	n/a	chr1:225308986-225308997
13	CEBPB	chr1:225308863-225309125	A549	lung:	n/a	chr1:225308986-225308997
14	CEBPB	chr1:225308815-225309121	H1-hESC	embryonic stem cell:	n/a	chr1:225308986-225308997
15	CTCF	chr1:225306490-225306571	LNCaP	prostate:	n/a	n/a
16	CTCF	chr1:225305820-225305970	K562	blood:	n/a	n/a
17	CTCF	chr1:225293549-225293600	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr1:225253160-225253310	AoAF	blood vessel:	n/a	n/a
19	E2F4	chr1:225273027-225273106	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr1:225304587-225304757	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr1:225280290-225280465	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr1:225251347-225251632	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr1:225265605-225265707	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr1:225269975-225270175	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr1:225269659-225269661	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr1:225303796-225303924	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr1:225289231-225289234	MCF10A-Er-Src	breast:	n/a	n/a
28	EBF1	chr1:225291678-225291820	GM12878	blood:	n/a	n/a
29	EP300	chr1:225278342-225278483	K562	blood:	n/a	n/a
30	FAM48A	chr1:225310110-225310285	GM12878	blood:	n/a	n/a
31	FOS	chr1:225253678-225253874	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr1:225253619-225253894	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr1:225307039-225307270	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:225307088-225307345	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:225253722-225253882	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr1:225307016-225307353	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:225307024-225307322	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:225257150-225257260	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr1:225253625-225253838	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXA1	chr1:225248747-225249123	HepG2	liver:	n/a	n/a
41	FOXA1	chr1:225301003-225301282	HepG2	liver:	n/a	n/a
42	FOXA2	chr1:225301052-225301290	HepG2	liver:	n/a	n/a
43	FOXA2	chr1:225248552-225249006	A549	lung:	n/a	n/a
44	GATA2	chr1:225307800-225308274	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr1:225272641-225272793	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr1:225311097-225311114	SH-SY5Y	brain:	n/a	n/a
47	IRF4	chr1:225291630-225291857	GM12878	blood:	n/a	n/a
48	JUN	chr1:225307169-225307347	K562	blood:	n/a	n/a
49	JUN	chr1:225274502-225274618	K562	blood:	n/a	n/a
50	JUND	chr1:225253685-225253892	HepG2	liver:	n/a	chr1:225253768-225253779

No.	Distal block	Cell Line	Cell type
1	chr1:225265020..225266847-chr1:225269250..225271581,2	K562	blood:
2	chr1:225265020..225266847-chr1:225269250..225271581,2	K562	blood:
3	chr1:225283829..225285638-chr1:225286996..225289019,2	K562	blood:
4	chr1:225283829..225285638-chr1:225286996..225289019,2	K562	blood:
5	chr1:225268034..225271862-chr1:225273002..225275379,3	K562	blood:

Variant related genes	Relation type
DNAH14	TF binding region
ENSG00000185842	chromatin interactions

Extended variants
information (count: 2138 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556133563	chr1:225248809-225248810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577773291	chr1:225248819-225248820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538517927	chr1:225248867-225248868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554128053	chr1:225248870-225248871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573250842	chr1:225248902-225248903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs530933174	chr1:225248908-225248909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144631439	chr1:225248920-225248921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574096853	chr1:225248979-225248980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113581255	chr1:225248982-225248983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562899163	chr1:225248984-225248985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533586819	chr1:225248985-225248986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545350375	chr1:225248992-225248993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188285683	chr1:225248993-225248994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs117492135	chr1:225248998-225248999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112961981	chr1:225248999-225249000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs193188001	chr1:225249005-225249006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182859421	chr1:225249017-225249018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111726126	chr1:225249020-225249021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369810489	chr1:225249024-225249025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143412691	chr1:225249070-225249071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554091000	chr1:225249075-225249076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2449301	chr1:225249093-225249094	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534180619	chr1:225249108-225249109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546386344	chr1:225249146-225249147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140582821	chr1:225249157-225249158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs188281992	chr1:225249158-225249159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556641853	chr1:225249164-225249165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566457938	chr1:225249172-225249173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2449302	chr1:225249174-225249175	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191265081	chr1:225249202-225249203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560404573	chr1:225249207-225249208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183751164	chr1:225249208-225249209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542919700	chr1:225249239-225249240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115495456	chr1:225249240-225249241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531355519	chr1:225249260-225249261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188478387	chr1:225249300-225249301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571352901	chr1:225249301-225249302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532196514	chr1:225249303-225249304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547656593	chr1:225249304-225249305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113800441	chr1:225249318-225249319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs57320908	chr1:225249343-225249344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192461270	chr1:225249347-225249348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2501112	chr1:225249367-225249368	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566848637	chr1:225255639-225255640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534230255	chr1:225255653-225255654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555570173	chr1:225255676-225255677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112138802	chr1:225255695-225255696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188011390	chr1:225255728-225255729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556297630	chr1:225255788-225255789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577832057	chr1:225255796-225255797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225248800-225249400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:225255600-225260400	Weak transcription	Pancreas	Pancrea
3	chr1:225256400-225277400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:225257000-225257400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:225257000-225262600	Weak transcription	A549	lung
6	chr1:225257200-225257400	Enhancers	Hela-S3	cervix
7	chr1:225257400-225260600	Weak transcription	Hela-S3	cervix
8	chr1:225258000-225264200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:225258400-225259400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:225259000-225263000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr1:225259200-225259800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr1:225259400-225262000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:225259800-225264600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:225260200-225260800	ZNF genes & repeats	Ovary	ovary
15	chr1:225260200-225261000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr1:225260200-225261200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:225260400-225260800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:225260400-225261200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:225260400-225261200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr1:225260400-225261200	Strong transcription	Pancreas	Pancrea
21	chr1:225260400-225261400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:225260600-225261000	ZNF genes & repeats	Hela-S3	cervix
23	chr1:225260600-225263000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr1:225260600-225263000	ZNF genes & repeats	Fetal Stomach	stomach
25	chr1:225260800-225261200	Strong transcription	Ovary	ovary
26	chr1:225260800-225262200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:225261000-225261200	ZNF genes & repeats	Gastric	stomach
28	chr1:225261000-225261400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:225261200-225261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:225261200-225263600	Weak transcription	Gastric	stomach
31	chr1:225261200-225274800	Weak transcription	Ovary	ovary
32	chr1:225261200-225279200	Weak transcription	Pancreas	Pancrea
33	chr1:225261400-225261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:225261400-225274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:225261800-225264000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:225262200-225263000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:225262400-225262600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr1:225263000-225263600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:225263000-225264200	Weak transcription	Fetal Stomach	stomach
40	chr1:225263600-225264000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:225263600-225264000	Enhancers	Gastric	stomach
42	chr1:225264000-225265600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:225264200-225267600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:225267600-225268600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:225267600-225268600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:225268600-225269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:225269600-225274600	Weak transcription	Fetal Intestine Large	intestine
48	chr1:225271200-225274800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:225274200-225275400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr1:225274600-225275400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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