Variant report

Variant	esv1808493
Chromosome Location	chr1:225232264-225267066
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	chr1:225251396-225251573	HepG2	liver:	n/a	chr1:225251435-225251446
3	CEBPB	chr1:225241337-225241539	A549	lung:	n/a	chr1:225241423-225241434 chr1:225241483-225241494
4	CEBPB	chr1:225232029-225232387	ECC-1	luminal epithelium:	n/a	chr1:225232161-225232172
5	CEBPB	chr1:225232007-225232356	HepG2	liver:	n/a	chr1:225232161-225232172
6	CEBPB	chr1:225232025-225232315	K562	blood:	n/a	chr1:225232161-225232172
7	CEBPB	chr1:225241393-225241550	HepG2	liver:	n/a	chr1:225241423-225241434 chr1:225241483-225241494
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	chr1:225231925-225232349	ECC-1	luminal epithelium:	n/a	chr1:225232161-225232172
11	CTCF	chr1:225253160-225253310	AoAF	blood vessel:	n/a	n/a
12	E2F4	chr1:225265605-225265707	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr1:225251347-225251632	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr1:225236291-225236297	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:225253625-225253838	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:225232027-225232301	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:225253722-225253882	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:225257150-225257260	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:225253678-225253874	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:225253619-225253894	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:225232096-225232318	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:225235580-225235606	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA1	chr1:225248747-225249123	HepG2	liver:	n/a	n/a
24	FOXA2	chr1:225248552-225249006	A549	lung:	n/a	n/a
25	GATA3	chr1:225237406-225237593	SH-SY5Y	brain:	n/a	n/a
26	JUN	chr1:225231973-225232288	HepG2	liver:	n/a	chr1:225232162-225232175
27	JUND	chr1:225257116-225257316	HepG2	liver:	n/a	chr1:225257195-225257206
28	JUND	chr1:225232012-225232341	HepG2	liver:	n/a	n/a
29	JUND	chr1:225253685-225253892	HepG2	liver:	n/a	chr1:225253768-225253779
30	KAP1	chr1:225258745-225259043	HEK293	kidney:	n/a	n/a
31	KAP1	chr1:225251429-225252069	K562	blood:	n/a	n/a
32	NFIC	chr1:225232013-225232410	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr1:225234829-225234864	K562	blood:	n/a	n/a
34	POLR2A	chr1:225239248-225241180	K562	blood:	n/a	n/a
35	POLR2A	chr1:225232546-225232609	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr1:225262731-225262779	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:225260626-225260844	K562	blood:	n/a	n/a
38	POLR2A	chr1:225257542-225257551	K562	blood:	n/a	n/a
39	POLR2A	chr1:225238480-225238997	K562	blood:	n/a	n/a
40	POLR2A	chr1:225252594-225252598	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr1:225233767-225233814	K562	blood:	n/a	n/a
42	POLR2A	chr1:225251805-225251846	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr1:225249538-225250079	K562	blood:	n/a	n/a
44	POLR2A	chr1:225236031-225236175	K562	blood:	n/a	n/a
45	POLR2A	chr1:225237408-225237920	K562	blood:	n/a	n/a
46	POLR2A	chr1:225250422-225250622	K562	blood:	n/a	n/a
47	POLR2A	chr1:225236811-225236947	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:225254563-225255855	K562	blood:	n/a	n/a
49	POLR2A	chr1:225256696-225257048	K562	blood:	n/a	n/a
50	POLR2A	chr1:225238949-225239137	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225265020..225266847-chr1:225269250..225271581,2	K562	blood:
2	chr1:225229374..225230956-chr1:225231061..225233757,2	K562	blood:

Variant related genes	Relation type
DNAH14	TF binding region

Extended variants
information (count: 795 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1506074	chr1:225232264-225232265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190864159	chr1:225232288-225232289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558630499	chr1:225232296-225232297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138394989	chr1:225232306-225232307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2501103	chr1:225232448-225232449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183449877	chr1:225232449-225232450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74603189	chr1:225232471-225232472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149311938	chr1:225232608-225232609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188566909	chr1:225232656-225232657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200485132	chr1:225232667-225232668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3047127	chr1:225232668-225232669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529458869	chr1:225232669-225232670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201107096	chr1:225232674-225232675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547647404	chr1:225232713-225232714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559808165	chr1:225232737-225232738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533809838	chr1:225232755-225232756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202241371	chr1:225232756-225232757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111506488	chr1:225232777-225232778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76646941	chr1:225232779-225232780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535930417	chr1:225232804-225232805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547902527	chr1:225232825-225232826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115599516	chr1:225232851-225232852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567395906	chr1:225232918-225232919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138849505	chr1:225232970-225232971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552397014	chr1:225232971-225232972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2456352	chr1:225233025-225233026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192966877	chr1:225233031-225233032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78989980	chr1:225233041-225233042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2456351	chr1:225233076-225233077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183124510	chr1:225233078-225233079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575765199	chr1:225233099-225233100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574671806	chr1:225233100-225233101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536635650	chr1:225233148-225233149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115656985	chr1:225233149-225233150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188055790	chr1:225233165-225233166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144621287	chr1:225233183-225233184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565050904	chr1:225233281-225233282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115981333	chr1:225233322-225233323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541245891	chr1:225233346-225233347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559971800	chr1:225233353-225233354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530358833	chr1:225233383-225233384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374262120	chr1:225233395-225233396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7537651	chr1:225233421-225233422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563182272	chr1:225233469-225233470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530522665	chr1:225233495-225233496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76538004	chr1:225233589-225233590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191240130	chr1:225233598-225233599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570577401	chr1:225233615-225233616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558470158	chr1:225233617-225233618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534789023	chr1:225233650-225233651	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:54 , 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	chr1:225227000-225238400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:225227000-225240200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:225231600-225232600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:225232000-225232800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:225232200-225232600	Enhancers	Fetal Lung	lung
9	chr1:225238200-225238600	Weak transcription	Pancreas	Pancrea
10	chr1:225238400-225238600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:225238600-225238800	ZNF genes & repeats	Pancreas	Pancrea
12	chr1:225248800-225249400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:225255600-225260400	Weak transcription	Pancreas	Pancrea
14	chr1:225256400-225277400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:225257000-225257400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:225257000-225262600	Weak transcription	A549	lung
17	chr1:225257200-225257400	Enhancers	Hela-S3	cervix
18	chr1:225257400-225260600	Weak transcription	Hela-S3	cervix
19	chr1:225258000-225264200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:225258400-225259400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:225259000-225263000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr1:225259200-225259800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr1:225259400-225262000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:225259800-225264600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:225260200-225260800	ZNF genes & repeats	Ovary	ovary
26	chr1:225260200-225261000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr1:225260200-225261200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:225260400-225260800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:225260400-225261200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:225260400-225261200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr1:225260400-225261200	Strong transcription	Pancreas	Pancrea
32	chr1:225260400-225261400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:225260600-225261000	ZNF genes & repeats	Hela-S3	cervix
34	chr1:225260600-225263000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr1:225260600-225263000	ZNF genes & repeats	Fetal Stomach	stomach
36	chr1:225260800-225261200	Strong transcription	Ovary	ovary
37	chr1:225260800-225262200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:225261000-225261200	ZNF genes & repeats	Gastric	stomach
39	chr1:225261000-225261400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:225261200-225261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:225261200-225263600	Weak transcription	Gastric	stomach
42	chr1:225261200-225274800	Weak transcription	Ovary	ovary
43	chr1:225261200-225279200	Weak transcription	Pancreas	Pancrea
44	chr1:225261400-225261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:225261400-225274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:225261800-225264000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:225262200-225263000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:225262400-225262600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr1:225263000-225263600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:225263000-225264200	Weak transcription	Fetal Stomach	stomach

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