Variant report

Variant	nsv508291
Chromosome Location	chr4:79761211-79772916
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	ATF2	chr4:79766511-79767010	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:79767431-79767721	HepG2	liver:	n/a	chr4:79767601-79767612 chr4:79767600-79767611 chr4:79767587-79767598
3	CEBPB	chr4:79766768-79767081	IMR90	lung:	n/a	chr4:79766977-79766990 chr4:79766978-79766989 chr4:79766936-79766949 chr4:79766936-79766947
4	CEBPB	chr4:79767468-79767708	A549	lung:	n/a	chr4:79767601-79767612 chr4:79767600-79767611 chr4:79767587-79767598
5	CEBPB	chr4:79766793-79767104	HepG2	liver:	n/a	chr4:79766977-79766990 chr4:79766978-79766989 chr4:79766936-79766949 chr4:79766936-79766947
6	CEBPB	chr4:79767434-79767778	IMR90	lung:	n/a	chr4:79767601-79767612 chr4:79767600-79767611 chr4:79767587-79767598
7	CEBPB	chr4:79767474-79767766	K562	blood:	n/a	chr4:79767601-79767612 chr4:79767600-79767611 chr4:79767587-79767598
8	CEBPB	chr4:79766781-79767118	Hela-S3	cervix:	n/a	chr4:79766977-79766990 chr4:79766978-79766989 chr4:79766936-79766949 chr4:79766936-79766947
9	CEBPB	chr4:79767439-79767774	Hela-S3	cervix:	n/a	chr4:79767601-79767612 chr4:79767600-79767611 chr4:79767587-79767598
10	CEBPB	chr4:79763289-79763593	K562	blood:	n/a	chr4:79763466-79763479
11	CEBPB	chr4:79766845-79767080	K562	blood:	n/a	chr4:79766977-79766990 chr4:79766978-79766989 chr4:79766936-79766949 chr4:79766936-79766947
12	CEBPB	chr4:79766793-79767090	A549	lung:	n/a	chr4:79766977-79766990 chr4:79766978-79766989 chr4:79766936-79766949 chr4:79766936-79766947
13	CREB1	chr4:79766603-79767098	GM12878	blood:	n/a	n/a
14	CREB1	chr4:79766427-79767200	GM12878	blood:	n/a	n/a
15	EP300	chr4:79767541-79767634	K562	blood:	n/a	chr4:79767598-79767612
16	FOS	chr4:79766754-79766976	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA1	chr4:79760627-79761302	PBDE	blood:	n/a	n/a
18	GATA3	chr4:79769603-79769756	SH-SY5Y	brain:	n/a	n/a
19	HCFC1	chr4:79770089-79770195	K562	blood:	n/a	n/a
20	IRF1	chr4:79765741-79765757	K562	blood:	n/a	n/a
21	JUN	chr4:79767583-79767617	HepG2	liver:	n/a	chr4:79767598-79767611
22	JUN	chr4:79763258-79763458	HepG2	liver:	n/a	chr4:79763393-79763406
23	JUND	chr4:79767534-79767756	HepG2	liver:	n/a	n/a
24	KAP1	chr4:79764254-79764767	K562	blood:	n/a	n/a
25	KAP1	chr4:79766279-79766740	K562	blood:	n/a	n/a
26	KAP1	chr4:79765327-79765608	K562	blood:	n/a	n/a
27	MAFF	chr4:79771083-79771303	HepG2	liver:	n/a	n/a
28	MAFF	chr4:79770999-79771287	K562	blood:	n/a	n/a
29	MAFK	chr4:79771046-79771267	IMR90	lung:	n/a	n/a
30	MAFK	chr4:79761663-79761706	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAFK	chr4:79766319-79766480	HepG2	liver:	n/a	n/a
32	MAFK	chr4:79771003-79771302	HepG2	liver:	n/a	n/a
33	MAFK	chr4:79762795-79762921	IMR90	lung:	n/a	n/a
34	MAFK	chr4:79761587-79761712	HepG2	liver:	n/a	n/a
35	MAFK	chr4:79761547-79761717	HepG2	liver:	n/a	n/a
36	MEF2A	chr4:79766413-79767122	GM12878	blood:	n/a	chr4:79766778-79766786 chr4:79766789-79766810
37	MYC	chr4:79765317-79765379	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr4:79762218-79762229	K562	blood:	n/a	n/a
39	NFIC	chr4:79766525-79767064	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:79770542-79771751	K562	blood:	n/a	n/a
41	POLR2A	chr4:79770523-79770662	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:79767263-79767683	K562	blood:	n/a	n/a
43	POLR2A	chr4:79765284-79765348	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:79761697-79761698	K562	blood:	n/a	n/a
45	POLR2A	chr4:79764814-79764875	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:79762903-79763057	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:79762832-79763109	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:79769337-79769625	K562	blood:	n/a	n/a
49	POLR2A	chr4:79765233-79767034	K562	blood:	n/a	n/a
50	POLR2A	chr4:79772553-79775230	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79761242..79763220-chr4:79764884..79767301,3	K562	blood:
2	chr4:79762332..79763887-chr4:79767751..79769373,2	K562	blood:
3	chr4:79762332..79763887-chr4:79767751..79769373,2	K562	blood:
4	chr4:79760812..79762742-chr4:79764884..79766656,2	K562	blood:
5	chr4:79697257..79699576-chr4:79770892..79773352,2	MCF-7	breast:
6	chr4:79752709..79756121-chr4:79759039..79764017,4	K562	blood:
7	chr4:79761796..79764662-chr4:79771041..79772636,2	K562	blood:
8	chr4:79761242..79763220-chr4:79764884..79767301,3	K562	blood:
9	chr4:79760812..79762742-chr4:79764884..79766656,2	K562	blood:

Variant related genes	Relation type
BMP2K	TF binding region
ENSG00000138756	chromatin interactions

Extended variants
information (count: 383 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373090245	chr4:79761239-79761240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561881643	chr4:79761245-79761246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115984215	chr4:79761247-79761248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547448685	chr4:79761255-79761256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368488356	chr4:79761272-79761273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373057196	chr4:79761274-79761275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72862513	chr4:79761295-79761296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532934375	chr4:79761312-79761313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75410691	chr4:79761370-79761371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569972178	chr4:79761395-79761396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535681857	chr4:79761443-79761444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141694227	chr4:79761467-79761468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115443994	chr4:79761523-79761524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191283634	chr4:79761535-79761536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145438243	chr4:79761562-79761563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28411173	chr4:79761578-79761579	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368553473	chr4:79761631-79761632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555152475	chr4:79761646-79761647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540596748	chr4:79761673-79761674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28551149	chr4:79761698-79761699	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149131879	chr4:79761738-79761739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367881505	chr4:79761742-79761743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74770078	chr4:79761792-79761793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576371248	chr4:79761957-79761958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115136627	chr4:79761995-79761996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183135768	chr4:79762096-79762097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188578017	chr4:79762151-79762152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371376099	chr4:79762166-79762167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113735612	chr4:79762202-79762203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558663017	chr4:79762264-79762265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112785375	chr4:79762274-79762275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540911408	chr4:79762286-79762287	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564207564	chr4:79762329-79762330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72659102	chr4:79762340-79762341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574770144	chr4:79762366-79762367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374815935	chr4:79762367-79762368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192290704	chr4:79762465-79762466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542439160	chr4:79762471-79762472	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183205453	chr4:79762537-79762538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143612808	chr4:79762538-79762539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564063619	chr4:79762557-79762558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187568813	chr4:79762564-79762565	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535216459	chr4:79762596-79762597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551686563	chr4:79762597-79762598	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571674948	chr4:79762626-79762627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116839405	chr4:79762641-79762642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546947960	chr4:79762650-79762651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557365539	chr4:79762658-79762659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570119518	chr4:79762678-79762679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545800899	chr4:79762727-79762728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79738800-79793200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:79744600-79793800	Weak transcription	Psoas Muscle	Psoas
3	chr4:79745800-79786400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:79746800-79783400	Weak transcription	A549	lung
5	chr4:79747200-79815600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:79748800-79823600	Weak transcription	Small Intestine	intestine
7	chr4:79749200-79773800	Weak transcription	Esophagus	oesophagus
8	chr4:79749200-79793600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:79749400-79780000	Weak transcription	HUVEC	blood vessel
10	chr4:79749400-79782000	Weak transcription	HepG2	liver
11	chr4:79749400-79792400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:79749400-79793800	Weak transcription	Gastric	stomach
13	chr4:79749600-79762200	Weak transcription	Pancreas	Pancrea
14	chr4:79749600-79766000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:79749600-79781000	Weak transcription	Ovary	ovary
16	chr4:79749600-79784600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:79749600-79793000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:79749600-79793600	Weak transcription	Brain Germinal Matrix	brain
19	chr4:79749600-79793800	Weak transcription	Fetal Brain Female	brain
20	chr4:79749800-79761800	Weak transcription	Fetal Brain Male	brain
21	chr4:79749800-79762200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:79749800-79766200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:79749800-79772200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:79749800-79773600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:79749800-79781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:79749800-79786800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:79749800-79788000	Weak transcription	Lung	lung
28	chr4:79749800-79793400	Weak transcription	Thymus	Thymus
29	chr4:79749800-79793600	Weak transcription	Colonic Mucosa	Colon
30	chr4:79750000-79766800	Weak transcription	Brain Substantia Nigra	brain
31	chr4:79750200-79762200	Weak transcription	Aorta	Aorta
32	chr4:79750200-79772200	Weak transcription	Placenta	Placenta
33	chr4:79750200-79786600	Weak transcription	Left Ventricle	heart
34	chr4:79750200-79787600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:79750400-79763800	Weak transcription	Brain Anterior Caudate	brain
36	chr4:79750400-79764200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:79750400-79772600	Weak transcription	Dnd41	blood
38	chr4:79750400-79777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:79750400-79783400	Weak transcription	NHEK	skin
40	chr4:79750400-79786800	Weak transcription	NH-A	brain
41	chr4:79750400-79791400	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:79750400-79792200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:79750400-79792600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:79750400-79793600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:79750400-79797000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:79750600-79775600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:79750600-79778400	Weak transcription	Fetal Heart	heart
48	chr4:79750600-79792600	Weak transcription	HSMMtube	muscle
49	chr4:79750600-79793600	Weak transcription	Fetal Kidney	kidney
50	chr4:79751600-79773400	Weak transcription	Osteobl	bone

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