Variant report

Variant	nsv549262
Chromosome Location	chr1:225191852-225319898
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	ARID3A	chr1:225192292-225192433	HepG2	liver:	n/a	n/a
2	BACH1	chr1:225229451-225229466	K562	blood:	n/a	n/a
3	CBX3	chr1:225251481-225251774	K562	blood:	n/a	n/a
4	CBX3	chr1:225204354-225204636	K562	blood:	n/a	n/a
5	CEBPB	chr1:225308815-225309171	MCF-7	breast:	n/a	chr1:225308986-225308997
6	CEBPB	chr1:225302065-225302276	HepG2	liver:	n/a	chr1:225302164-225302175
7	CEBPB	chr1:225232029-225232387	ECC-1	luminal epithelium:	n/a	chr1:225232161-225232172
8	CEBPB	chr1:225232035-225232261	H1-hESC	embryonic stem cell:	n/a	chr1:225232161-225232172
9	CEBPB	chr1:225231925-225232349	ECC-1	luminal epithelium:	n/a	chr1:225232161-225232172
10	CEBPB	chr1:225308863-225309125	A549	lung:	n/a	chr1:225308986-225308997
11	CEBPB	chr1:225232045-225232269	A549	lung:	n/a	chr1:225232161-225232172
12	CEBPB	chr1:225232025-225232315	K562	blood:	n/a	chr1:225232161-225232172
13	CEBPB	chr1:225232007-225232356	HepG2	liver:	n/a	chr1:225232161-225232172
14	CEBPB	chr1:225308810-225309179	A549	lung:	n/a	chr1:225308986-225308997
15	CEBPB	chr1:225308807-225309166	HepG2	liver:	n/a	chr1:225308986-225308997
16	CEBPB	chr1:225308816-225309180	K562	blood:	n/a	chr1:225308986-225308997
17	CEBPB	chr1:225214987-225215033	A549	lung:	n/a	n/a
18	CEBPB	chr1:225231991-225232354	Hela-S3	cervix:	n/a	chr1:225232161-225232172
19	CEBPB	chr1:225308815-225309121	H1-hESC	embryonic stem cell:	n/a	chr1:225308986-225308997
20	CEBPB	chr1:225308834-225309187	ECC-1	luminal epithelium:	n/a	chr1:225308986-225308997
21	CEBPB	chr1:225251396-225251573	HepG2	liver:	n/a	chr1:225251435-225251446
22	CEBPB	chr1:225308838-225309244	A549	lung:	n/a	chr1:225308986-225308997
23	CEBPB	chr1:225302089-225302313	Hela-S3	cervix:	n/a	chr1:225302164-225302175
24	CEBPB	chr1:225308825-225309165	Hela-S3	cervix:	n/a	chr1:225308986-225308997
25	CEBPB	chr1:225241337-225241539	A549	lung:	n/a	chr1:225241423-225241434 chr1:225241483-225241494
26	CEBPB	chr1:225308818-225309168	IMR90	lung:	n/a	chr1:225308986-225308997
27	CEBPB	chr1:225241393-225241550	HepG2	liver:	n/a	chr1:225241423-225241434 chr1:225241483-225241494
28	CTCF	chr1:225192200-225192350	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr1:225313940-225314090	GM12869	blood:	n/a	n/a
30	CTCF	chr1:225192240-225192390	A549	lung:	n/a	n/a
31	CTCF	chr1:225305820-225305970	K562	blood:	n/a	n/a
32	CTCF	chr1:225192200-225192350	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr1:225192220-225192370	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr1:225192230-225192405	HepG2	liver:	n/a	n/a
35	CTCF	chr1:225192220-225192370	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr1:225192240-225192390	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr1:225192200-225192350	NHEK	skin:	n/a	n/a
38	CTCF	chr1:225192220-225192370	GM12874	blood:	n/a	n/a
39	CTCF	chr1:225192177-225192456	HepG2	liver:	n/a	n/a
40	CTCF	chr1:225191969-225192609	A549	lung:	n/a	n/a
41	CTCF	chr1:225192180-225192330	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr1:225192260-225192410	GM12875	blood:	n/a	n/a
43	CTCF	chr1:225293549-225293600	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr1:225192240-225192390	HMEC	breast:	n/a	n/a
45	CTCF	chr1:225192260-225192410	HRE	kidney:	n/a	n/a
46	CTCF	chr1:225192219-225192436	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:225192157-225192468	K562	blood:	n/a	n/a
48	CTCF	chr1:225192220-225192370	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr1:225192232-225192416	Gliobla	brain:	n/a	n/a
50	CTCF	chr1:225192262-225192381	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225226692..225229117-chr1:225229791..225231600,2	K562	blood:
2	chr1:225187463..225189933-chr1:225191453..225195155,3	K562	blood:
3	chr1:225226692..225229117-chr1:225229791..225231600,2	K562	blood:
4	chr1:225116575..225119201-chr1:225198743..225201718,2	MCF-7	breast:
5	chr1:225208646..225211614-chr1:225214288..225217124,2	K562	blood:
6	chr1:225268034..225271862-chr1:225273002..225275379,3	K562	blood:
7	chr1:225229374..225230956-chr1:225231061..225233757,2	K562	blood:
8	chr1:225202258..225204234-chr8:111898982..111900583,2	MCF-7	breast:
9	chr1:225208646..225211614-chr1:225214288..225217124,2	K562	blood:
10	chr1:225283829..225285638-chr1:225286996..225289019,2	K562	blood:
11	chr1:225265020..225266847-chr1:225269250..225271581,2	K562	blood:
12	chr1:225204703..225207335-chr1:225217608..225220449,2	K562	blood:
13	chr1:225265020..225266847-chr1:225269250..225271581,2	K562	blood:
14	chr1:225204703..225207335-chr1:225217608..225220449,2	K562	blood:
15	chr1:225283829..225285638-chr1:225286996..225289019,2	K562	blood:
16	chr1:225229374..225230956-chr1:225231061..225233757,2	K562	blood:
17	chr1:225116223..225117951-chr1:225191253..225193259,2	MCF-7	breast:

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

Extended variants
information (count: 4187 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:4187 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2449285	chr1:225191852-225191853	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78139584	chr1:225191880-225191881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76183613	chr1:225191933-225191934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532045752	chr1:225191989-225191990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549485740	chr1:225192019-225192020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187257869	chr1:225192071-225192072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538341269	chr1:225192083-225192084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528362847	chr1:225192129-225192130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs80075364	chr1:225192132-225192133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138976348	chr1:225192133-225192134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565539244	chr1:225192136-225192137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536085497	chr1:225192301-225192302	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554355566	chr1:225192308-225192309	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575887339	chr1:225192316-225192317	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537365619	chr1:225192440-225192441	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556266391	chr1:225192452-225192453	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191246684	chr1:225192463-225192464	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545165933	chr1:225192468-225192469	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115233719	chr1:225192469-225192470	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548212457	chr1:225192474-225192475	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201814484	chr1:225192492-225192493	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572580183	chr1:225192602-225192603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142798402	chr1:225192607-225192608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114932998	chr1:225192629-225192630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376763281	chr1:225192651-225192652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544130520	chr1:225192652-225192653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564704231	chr1:225192769-225192770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532183326	chr1:225192844-225192845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72746953	chr1:225192877-225192878	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2501129	chr1:225192900-225192901	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529744202	chr1:225192914-225192915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547944941	chr1:225192921-225192922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2449284	chr1:225192922-225192923	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536469427	chr1:225192926-225192927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147396209	chr1:225192939-225192940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183840353	chr1:225192961-225192962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188453313	chr1:225193009-225193010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538983225	chr1:225193010-225193011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554209768	chr1:225193016-225193017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373257467	chr1:225193017-225193018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376245667	chr1:225193059-225193060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138047514	chr1:225193121-225193122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555187570	chr1:225193125-225193126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573465544	chr1:225193146-225193147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12567499	chr1:225193147-225193148	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569920278	chr1:225193166-225193167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374067460	chr1:225193171-225193172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12566857	chr1:225193186-225193187	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370308810	chr1:225193215-225193216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565614642	chr1:225193265-225193266	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:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225157600-225201400	Weak transcription	Pancreas	Pancrea
2	chr1:225184600-225202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:225187000-225203600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:225187800-225192400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:225190200-225192200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:225190400-225201400	Weak transcription	Gastric	stomach
7	chr1:225191200-225199000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:225192200-225192400	Weak transcription	Ovary	ovary
9	chr1:225192200-225192600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:225192400-225192600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr1:225192400-225192600	ZNF genes & repeats	Ovary	ovary
12	chr1:225192600-225194000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:225192600-225203400	Weak transcription	Ovary	ovary
14	chr1:225194000-225194600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr1:225194600-225199600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:225195200-225196200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:225198400-225199200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:225199000-225199200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:225199200-225201800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:225199400-225207000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:225199600-225203400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:225201000-225202200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr1:225201000-225202200	ZNF genes & repeats	Fetal Stomach	stomach
24	chr1:225201200-225206200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:225201400-225201800	Strong transcription	Gastric	stomach
26	chr1:225201400-225202000	ZNF genes & repeats	Pancreas	Pancrea
27	chr1:225201400-225203600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr1:225201800-225202000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:225201800-225203200	Weak transcription	Gastric	stomach
30	chr1:225201800-225203400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:225202000-225203600	Weak transcription	Pancreas	Pancrea
32	chr1:225202000-225205200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:225202200-225203400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:225202200-225203800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr1:225202200-225204800	Weak transcription	Fetal Stomach	stomach
36	chr1:225202800-225204000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:225202800-225204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:225203400-225203800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:225203400-225203800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:225203400-225203800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr1:225203400-225203800	ZNF genes & repeats	Ovary	ovary
42	chr1:225203400-225204000	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr1:225203400-225205000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:225203600-225203800	ZNF genes & repeats	Pancreas	Pancrea
45	chr1:225203800-225205000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:225203800-225205000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:225203800-225205000	Weak transcription	Ovary	ovary
48	chr1:225203800-225205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:225203800-225205200	Weak transcription	Pancreas	Pancrea
50	chr1:225204000-225205000	Weak transcription	Fetal Intestine Small	intestine

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