Variant report

Variant	nsv461973
Chromosome Location	chr1:74776808-74804833
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	CEBPB	chr1:74777395-74777659	HepG2	liver:	n/a	chr1:74777540-74777553 chr1:74777541-74777552
2	CEBPB	chr1:74783362-74783693	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:74780245-74780491	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:74780146-74780463	IMR90	lung:	n/a	n/a
5	CEBPB	chr1:74783464-74783590	HepG2	liver:	n/a	n/a
6	CEBPZ	chr1:74790846-74791124	HepG2	liver:	n/a	n/a
7	CTCF	chr1:74802103-74802213	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr1:74779180-74779330	HAc	cerebellar:	n/a	n/a
9	CTCF	chr1:74790800-74790950	HepG2	liver:	n/a	n/a
10	E2F4	chr1:74791612-74791689	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr1:74776700-74776900	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F6	chr1:74782034-74782339	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr1:74781759-74782401	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELK1	chr1:74801052-74801061	Hela-S3	cervix:	n/a	n/a
15	FOS	chr1:74783494-74783660	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:74783430-74783695	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:74783431-74783704	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:74783403-74783707	MCF10A-Er-Src	breast:	n/a	n/a
19	FOSL2	chr1:74783296-74783660	HepG2	liver:	n/a	n/a
20	FOSL2	chr1:74783420-74783647	HepG2	liver:	n/a	n/a
21	FOXA1	chr1:74790647-74791083	HepG2	liver:	n/a	n/a
22	FOXA1	chr1:74790592-74791040	HepG2	liver:	n/a	n/a
23	FOXA1	chr1:74790521-74791041	HepG2	liver:	n/a	n/a
24	FOXA1	chr1:74790636-74791070	HepG2	liver:	n/a	n/a
25	FOXA2	chr1:74790509-74790955	A549	lung:	n/a	n/a
26	FOXA2	chr1:74790644-74791021	HepG2	liver:	n/a	n/a
27	FOXA2	chr1:74789666-74790086	A549	lung:	n/a	n/a
28	GATA3	chr1:74789640-74790133	MCF-7	breast:	n/a	n/a
29	GATA3	chr1:74777185-74777501	SH-SY5Y	brain:	n/a	chr1:74777328-74777339 chr1:74777332-74777341
30	GTF2F1	chr1:74780212-74780412	H1-hESC	embryonic stem cell:	n/a	n/a
31	HNF4A	chr1:74790742-74791012	HepG2	liver:	n/a	chr1:74790809-74790824
32	HNF4A	chr1:74790645-74791068	HepG2	liver:	n/a	chr1:74790809-74790824
33	HNF4G	chr1:74790739-74791071	HepG2	liver:	n/a	chr1:74790934-74790949
34	IRF1	chr1:74791671-74791687	K562	blood:	n/a	n/a
35	JUND	chr1:74783441-74783612	HepG2	liver:	n/a	chr1:74783564-74783575
36	JUND	chr1:74783450-74783624	HepG2	liver:	n/a	chr1:74783564-74783575
37	JUND	chr1:74783429-74783725	HepG2	liver:	n/a	chr1:74783564-74783575
38	KAP1	chr1:74790552-74791242	HEK293	kidney:	n/a	n/a
39	MAFF	chr1:74782978-74783204	HepG2	liver:	n/a	chr1:74783026-74783044
40	MAFF	chr1:74794948-74795212	HepG2	liver:	n/a	chr1:74795079-74795097
41	MAFF	chr1:74799909-74800200	K562	blood:	n/a	chr1:74800029-74800047 chr1:74800079-74800097
42	MAFF	chr1:74790560-74790891	HepG2	liver:	n/a	n/a
43	MAFF	chr1:74799868-74800225	HepG2	liver:	n/a	chr1:74800029-74800047 chr1:74800079-74800097
44	MAFF	chr1:74783538-74783597	HepG2	liver:	n/a	chr1:74783557-74783575
45	MAFF	chr1:74799219-74799528	HepG2	liver:	n/a	chr1:74799343-74799361
46	MAFK	chr1:74794962-74795186	IMR90	lung:	n/a	chr1:74795083-74795097 chr1:74795084-74795095 chr1:74795080-74795095 chr1:74795085-74795096 chr1:74795085-74795096 chr1:74795080-74795096
47	MAFK	chr1:74799191-74799643	IMR90	lung:	n/a	chr1:74799345-74799356 chr1:74799345-74799360 chr1:74799345-74799356 chr1:74799346-74799357 chr1:74799345-74799361 chr1:74799344-74799358
48	MAFK	chr1:74799204-74799508	HepG2	liver:	n/a	chr1:74799345-74799356 chr1:74799345-74799360 chr1:74799345-74799356 chr1:74799346-74799357 chr1:74799345-74799361 chr1:74799344-74799358
49	MAFK	chr1:74799907-74800166	K562	blood:	n/a	chr1:74800030-74800044 chr1:74800031-74800047 chr1:74800081-74800092 chr1:74800032-74800043 chr1:74800031-74800042 chr1:74800084-74800100 chr1:74800031-74800042 chr1:74800031-74800046 chr1:74800036-74800045
50	MAFK	chr1:74799194-74799533	HepG2	liver:	n/a	chr1:74799345-74799356 chr1:74799345-74799360 chr1:74799345-74799356 chr1:74799346-74799357 chr1:74799345-74799361 chr1:74799344-74799358

No.	Distal block	Cell Line	Cell type
1	chr1:74701198..74703916-chr1:74780316..74782785,2	K562	blood:
2	chr1:74789903..74792042-chr1:74796412..74799113,2	MCF-7	breast:
3	chr1:74789903..74792042-chr1:74796412..74799113,2	MCF-7	breast:

Variant related genes	Relation type
TNNI3K	TF binding region

Extended variants
information (count: 984 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:984 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3765660	chr1:74776808-74776809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542840999	chr1:74776809-74776810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551166162	chr1:74776876-74776877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573729648	chr1:74776931-74776932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs45474995	chr1:74776932-74776933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11210447	chr1:74776957-74776958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532943758	chr1:74776968-74776969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144461291	chr1:74776977-74776978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563433600	chr1:74776999-74777000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184177611	chr1:74777012-74777013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557264432	chr1:74777022-74777023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12030793	chr1:74777054-74777055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548865360	chr1:74777118-74777119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs45451193	chr1:74777188-74777189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567146876	chr1:74777194-74777195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551230519	chr1:74777271-74777272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11808261	chr1:74777292-74777293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189022274	chr1:74777295-74777296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs45589836	chr1:74777301-74777302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571434805	chr1:74777331-74777332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375837763	chr1:74777345-74777346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573668708	chr1:74777383-74777384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs45477794	chr1:74777421-74777422	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551898643	chr1:74777443-74777444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181077909	chr1:74777478-74777479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148476482	chr1:74777482-74777483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142743404	chr1:74777577-74777578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11808297	chr1:74777578-74777579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559493454	chr1:74777625-74777626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377217730	chr1:74777688-74777689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566932109	chr1:74777760-74777761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17095121	chr1:74777775-74777776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553083612	chr1:74777838-74777839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146484191	chr1:74777853-74777854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544670262	chr1:74777854-74777855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563306255	chr1:74777904-74777905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185023223	chr1:74777978-74777979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139892564	chr1:74778039-74778040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542924076	chr1:74778047-74778048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560882327	chr1:74778110-74778111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143397583	chr1:74778142-74778143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs45518238	chr1:74778194-74778195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565028271	chr1:74778213-74778214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs472013	chr1:74778261-74778262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550651526	chr1:74778265-74778266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555706558	chr1:74778272-74778273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34950925	chr1:74778275-74778276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs202215363	chr1:74778316-74778317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189090493	chr1:74778342-74778343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536513720	chr1:74778373-74778374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74771400-74778600	Weak transcription	Left Ventricle	heart
2	chr1:74776800-74779400	Enhancers	Fetal Heart	heart
3	chr1:74777200-74777600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:74777600-74781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:74778600-74779400	Enhancers	Left Ventricle	heart
6	chr1:74778600-74779400	Enhancers	Right Atrium	heart
7	chr1:74778800-74779200	Enhancers	Brain Germinal Matrix	brain
8	chr1:74779400-74781400	Weak transcription	Fetal Heart	heart
9	chr1:74779400-74784800	Weak transcription	Left Ventricle	heart
10	chr1:74779400-74784800	Weak transcription	Right Atrium	heart
11	chr1:74781400-74781600	Enhancers	Fetal Heart	heart
12	chr1:74781400-74783000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:74781600-74782000	Weak transcription	Fetal Heart	heart
14	chr1:74781800-74782200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:74781800-74782200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:74781800-74782200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:74781800-74782200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:74781800-74782200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:74781800-74782400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:74782000-74782200	Enhancers	Fetal Heart	heart
21	chr1:74782200-74784400	Weak transcription	Fetal Heart	heart
22	chr1:74782200-74786400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:74782400-74786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:74784400-74786800	Enhancers	Fetal Heart	heart
25	chr1:74784800-74785000	ZNF genes & repeats	Aorta	Aorta
26	chr1:74784800-74785000	Enhancers	Left Ventricle	heart
27	chr1:74784800-74785000	Enhancers	Right Atrium	heart
28	chr1:74785000-74785400	Weak transcription	Left Ventricle	heart
29	chr1:74785000-74789200	Weak transcription	Aorta	Aorta
30	chr1:74785400-74785600	Genic enhancers	Left Ventricle	heart
31	chr1:74785600-74808800	Weak transcription	Left Ventricle	heart
32	chr1:74786400-74787200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:74786600-74787000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:74786800-74787200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:74786800-74787200	Weak transcription	Fetal Heart	heart
36	chr1:74787200-74789000	Enhancers	Fetal Heart	heart
37	chr1:74787200-74790600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:74789000-74789200	Flanking Active TSS	Fetal Heart	heart
39	chr1:74789200-74789400	Enhancers	Aorta	Aorta
40	chr1:74789200-74789400	Enhancers	Fetal Heart	heart
41	chr1:74789200-74790200	Enhancers	Fetal Kidney	kidney
42	chr1:74789400-74789600	Flanking Active TSS	Fetal Heart	heart
43	chr1:74789400-74789800	Weak transcription	Aorta	Aorta
44	chr1:74789600-74791200	Enhancers	Fetal Heart	heart
45	chr1:74789600-74791400	Enhancers	HepG2	liver
46	chr1:74789800-74790400	Enhancers	Aorta	Aorta
47	chr1:74789800-74790400	Enhancers	Right Ventricle	heart
48	chr1:74790400-74791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:74790400-74814200	Weak transcription	Aorta	Aorta
50	chr1:74790600-74792800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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