Variant report

Variant	nsv1004856
Chromosome Location	chr1:225228287-225271137
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	BACH1	chr1:225229451-225229466	K562	blood:	n/a	n/a
2	CBX3	chr1:225251481-225251774	K562	blood:	n/a	n/a
3	CEBPB	chr1:225232025-225232315	K562	blood:	n/a	chr1:225232161-225232172
4	CEBPB	chr1:225231925-225232349	ECC-1	luminal epithelium:	n/a	chr1:225232161-225232172
5	CEBPB	chr1:225251396-225251573	HepG2	liver:	n/a	chr1:225251435-225251446
6	CEBPB	chr1:225241337-225241539	A549	lung:	n/a	chr1:225241423-225241434 chr1:225241483-225241494
7	CEBPB	chr1:225232007-225232356	HepG2	liver:	n/a	chr1:225232161-225232172
8	CEBPB	chr1:225231991-225232354	Hela-S3	cervix:	n/a	chr1:225232161-225232172
9	CEBPB	chr1:225232045-225232269	A549	lung:	n/a	chr1:225232161-225232172
10	CEBPB	chr1:225232029-225232387	ECC-1	luminal epithelium:	n/a	chr1:225232161-225232172
11	CEBPB	chr1:225232035-225232261	H1-hESC	embryonic stem cell:	n/a	chr1:225232161-225232172
12	CEBPB	chr1:225241393-225241550	HepG2	liver:	n/a	chr1:225241423-225241434 chr1:225241483-225241494
13	CTCF	chr1:225253160-225253310	AoAF	blood vessel:	n/a	n/a
14	E2F4	chr1:225269975-225270175	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr1:225251347-225251632	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr1:225269659-225269661	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr1:225236291-225236297	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr1:225265605-225265707	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:225232027-225232301	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:225232047-225232243	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:225232096-225232318	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:225253722-225253882	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr1:225235580-225235606	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:225253625-225253838	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:225257150-225257260	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:225253678-225253874	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:225232153-225232216	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:225253619-225253894	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr1:225248747-225249123	HepG2	liver:	n/a	n/a
30	FOXA2	chr1:225248552-225249006	A549	lung:	n/a	n/a
31	GATA2	chr1:225228794-225228986	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr1:225237406-225237593	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr1:225228793-225228835	SH-SY5Y	brain:	n/a	n/a
34	JUN	chr1:225232033-225232208	H1-hESC	embryonic stem cell:	n/a	chr1:225232162-225232175
35	JUN	chr1:225231973-225232288	HepG2	liver:	n/a	chr1:225232162-225232175
36	JUND	chr1:225253685-225253892	HepG2	liver:	n/a	chr1:225253768-225253779
37	JUND	chr1:225257116-225257316	HepG2	liver:	n/a	chr1:225257195-225257206
38	JUND	chr1:225232012-225232341	HepG2	liver:	n/a	n/a
39	KAP1	chr1:225258745-225259043	HEK293	kidney:	n/a	n/a
40	KAP1	chr1:225251429-225252069	K562	blood:	n/a	n/a
41	MAZ	chr1:225231054-225231137	HepG2	liver:	n/a	n/a
42	NFIC	chr1:225232013-225232410	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr1:225248247-225248309	K562	blood:	n/a	n/a
44	POLR2A	chr1:225269890-225269906	Gliobla	brain:	n/a	n/a
45	POLR2A	chr1:225237408-225237920	K562	blood:	n/a	n/a
46	POLR2A	chr1:225251805-225251846	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr1:225260626-225260844	K562	blood:	n/a	n/a
48	POLR2A	chr1:225233767-225233814	K562	blood:	n/a	n/a
49	POLR2A	chr1:225269876-225269887	Gliobla	brain:	n/a	n/a
50	POLR2A	chr1:225236811-225236947	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225229374..225230956-chr1:225231061..225233757,2	K562	blood:
2	chr1:225226692..225229117-chr1:225229791..225231600,2	K562	blood:
3	chr1:225226692..225229117-chr1:225229791..225231600,2	K562	blood:
4	chr1:225265020..225266847-chr1:225269250..225271581,2	K562	blood:
5	chr1:225229374..225230956-chr1:225231061..225233757,2	K562	blood:
6	chr1:225265020..225266847-chr1:225269250..225271581,2	K562	blood:

Variant related genes	Relation type
DNAH14	TF binding region

Extended variants
information (count: 1090 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546580173	chr1:225228355-225228356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367997415	chr1:225228376-225228377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114454650	chr1:225228480-225228481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566339203	chr1:225228519-225228520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535852076	chr1:225228578-225228579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77673256	chr1:225228625-225228626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540018223	chr1:225228636-225228637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558426936	chr1:225228645-225228646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573570928	chr1:225228673-225228674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540971706	chr1:225228678-225228679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548764936	chr1:225228715-225228716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140709261	chr1:225228721-225228722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573515660	chr1:225228722-225228723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74745375	chr1:225228753-225228754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116791029	chr1:225228761-225228762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74562273	chr1:225228795-225228796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189468749	chr1:225228813-225228814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181466323	chr1:225228851-225228852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559955780	chr1:225228871-225228872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186925109	chr1:225228885-225228886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529883584	chr1:225228930-225228931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548825062	chr1:225228933-225228934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567568958	chr1:225228971-225228972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547114291	chr1:225228976-225228977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75221559	chr1:225229003-225229004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569239103	chr1:225229043-225229044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs981067	chr1:225229089-225229090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74146613	chr1:225229102-225229103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs981068	chr1:225229104-225229105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534398740	chr1:225229106-225229107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530971397	chr1:225229139-225229140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555747843	chr1:225229255-225229256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577541292	chr1:225229265-225229266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574294664	chr1:225229266-225229267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145856357	chr1:225229279-225229280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556157054	chr1:225229285-225229286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191708776	chr1:225229325-225229326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549100285	chr1:225229403-225229404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs33947432	chr1:225229441-225229442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111736866	chr1:225229442-225229443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573172739	chr1:225229443-225229444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202109210	chr1:225229444-225229445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544750206	chr1:225229519-225229520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148997538	chr1:225229554-225229555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571875590	chr1:225229557-225229558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1482280	chr1:225229566-225229567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561004936	chr1:225229580-225229581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531668309	chr1:225229596-225229597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535322575	chr1:225229640-225229641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181243774	chr1:225229654-225229655	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225205600-225235600	Weak transcription	Pancreas	Pancrea
2	chr1:225215600-225242200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:225223400-225236000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:225225200-225232000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:225227000-225228600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:225227000-225238400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:225227000-225240200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:225228000-225231000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:225228600-225229400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:225231600-225232600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:225232000-225232800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:225232200-225232600	Enhancers	Fetal Lung	lung
13	chr1:225238200-225238600	Weak transcription	Pancreas	Pancrea
14	chr1:225238400-225238600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:225238600-225238800	ZNF genes & repeats	Pancreas	Pancrea
16	chr1:225248800-225249400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:225255600-225260400	Weak transcription	Pancreas	Pancrea
18	chr1:225256400-225277400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:225257000-225257400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:225257000-225262600	Weak transcription	A549	lung
21	chr1:225257200-225257400	Enhancers	Hela-S3	cervix
22	chr1:225257400-225260600	Weak transcription	Hela-S3	cervix
23	chr1:225258000-225264200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:225258400-225259400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:225259000-225263000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr1:225259200-225259800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr1:225259400-225262000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:225259800-225264600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:225260200-225260800	ZNF genes & repeats	Ovary	ovary
30	chr1:225260200-225261000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr1:225260200-225261200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:225260400-225260800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:225260400-225261200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:225260400-225261200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr1:225260400-225261200	Strong transcription	Pancreas	Pancrea
36	chr1:225260400-225261400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:225260600-225261000	ZNF genes & repeats	Hela-S3	cervix
38	chr1:225260600-225263000	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr1:225260600-225263000	ZNF genes & repeats	Fetal Stomach	stomach
40	chr1:225260800-225261200	Strong transcription	Ovary	ovary
41	chr1:225260800-225262200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:225261000-225261200	ZNF genes & repeats	Gastric	stomach
43	chr1:225261000-225261400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:225261200-225261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:225261200-225263600	Weak transcription	Gastric	stomach
46	chr1:225261200-225274800	Weak transcription	Ovary	ovary
47	chr1:225261200-225279200	Weak transcription	Pancreas	Pancrea
48	chr1:225261400-225261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:225261400-225274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:225261800-225264000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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