Variant report

Variant	nsv461559
Chromosome Location	chr4:77192838-77204500
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	chr4:77193316-77193966	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:77198899-77199247	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:77196531-77197258	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:77194194-77194433	HepG2	liver:	n/a	n/a
5	BHLHE40	chr4:77202095-77202266	K562	blood:	n/a	n/a
6	BHLHE40	chr4:77196655-77197263	HepG2	liver:	n/a	n/a
7	CEBPB	chr4:77196842-77197203	MCF-7	breast:	n/a	chr4:77197056-77197067
8	CEBPB	chr4:77195567-77195954	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:77199831-77200198	K562	blood:	n/a	chr4:77200016-77200027
10	CEBPB	chr4:77199873-77200166	A549	lung:	n/a	chr4:77200016-77200027
11	CEBPB	chr4:77199932-77200096	Hela-S3	cervix:	n/a	chr4:77200016-77200027
12	CEBPB	chr4:77199818-77200177	HepG2	liver:	n/a	chr4:77200016-77200027
13	CEBPB	chr4:77193655-77194401	HepG2	liver:	n/a	chr4:77193907-77193918 chr4:77193972-77193983 chr4:77193909-77193920 chr4:77193907-77193920
14	CEBPB	chr4:77196679-77196861	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:77201684-77201972	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr4:77196914-77197189	K562	blood:	n/a	chr4:77197056-77197067
17	CEBPB	chr4:77196749-77197234	A549	lung:	n/a	chr4:77197056-77197067
18	CEBPB	chr4:77197043-77197099	Hela-S3	cervix:	n/a	chr4:77197056-77197067
19	CEBPB	chr4:77196893-77197093	H1-hESC	embryonic stem cell:	n/a	chr4:77197056-77197067
20	CEBPB	chr4:77194291-77194491	K562	blood:	n/a	n/a
21	CEBPB	chr4:77194224-77194424	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr4:77193893-77193950	Hela-S3	cervix:	n/a	chr4:77193907-77193918 chr4:77193909-77193920 chr4:77193907-77193920
23	CEBPB	chr4:77196657-77197239	HepG2	liver:	n/a	chr4:77197056-77197067
24	CEBPB	chr4:77199942-77200046	H1-hESC	embryonic stem cell:	n/a	chr4:77200016-77200027
25	CEBPB	chr4:77196817-77197281	A549	lung:	n/a	chr4:77197056-77197067
26	CEBPB	chr4:77199864-77200155	IMR90	lung:	n/a	chr4:77200016-77200027
27	CTCF	chr4:77200800-77200950	HMEC	breast:	n/a	n/a
28	CTCF	chr4:77197070-77197120	GM12878	blood:	n/a	n/a
29	CTCF	chr4:77203605-77203721	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:77200780-77200930	GM12873	blood:	n/a	n/a
31	CTCF	chr4:77200640-77200916	A549	lung:	n/a	n/a
32	CTCF	chr4:77200816-77200827	K562	blood:	n/a	n/a
33	CTCF	chr4:77200785-77200862	Medullo	brain:	n/a	n/a
34	CTCF	chr4:77200762-77200887	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:77197020-77197170	A549	lung:	n/a	n/a
36	CTCF	chr4:77200680-77200830	GM12871	blood:	n/a	n/a
37	CTCF	chr4:77200740-77200890	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:77196940-77197090	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:77200793-77200812	K562	blood:	n/a	n/a
40	CTCF	chr4:77200779-77200854	GM19240	blood:	n/a	n/a
41	CTCF	chr4:77200760-77200910	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr4:77197020-77197170	HMF	breast:	n/a	n/a
43	CTCF	chr4:77203629-77203693	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:77200660-77200810	RPTEC	kidney:	n/a	n/a
45	CTCF	chr4:77200740-77200890	GM12871	blood:	n/a	n/a
46	CTCF	chr4:77200700-77200850	RPTEC	kidney:	n/a	n/a
47	CTCF	chr4:77200780-77200930	GM12875	blood:	n/a	n/a
48	CTCF	chr4:77200660-77200810	GM12873	blood:	n/a	n/a
49	CTCF	chr4:77196980-77197130	NB4	blood:	n/a	n/a
50	CTCF	chr4:77203621-77203681	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77068994..77070621-chr4:77200458..77203318,2	K562	blood:
2	chr4:77176555..77179540-chr4:77197353..77198945,2	K562	blood:
3	chr4:77196863..77197842-chr4:77227945..77228687,2	MCF-7	breast:
4	chr4:77202480..77205980-chr4:77226274..77229049,3	MCF-7	breast:
5	chr4:77194005..77196231-chr4:77197210..77198929,2	MCF-7	breast:
6	chr4:77200230..77201081-chr4:77342051..77342838,2	MCF-7	breast:
7	chr4:77200379..77201019-chr4:77298859..77299708,3	MCF-7	breast:
8	chr4:77194005..77196231-chr4:77197210..77198929,2	MCF-7	breast:
9	chr4:77071127..77073816-chr4:77194296..77196061,2	K562	blood:
10	chr4:77187933..77189509-chr4:77191905..77194383,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STBD1-2	chr4:77199272-77199377	NONHSAT096994
2	lnc-STBD1-2	chr4:77199222-77199808	NONHSAT096993

Variant related genes	Relation type
FAM47E	TF binding region
ENSG00000138750	chromatin interactions
ENSG00000189157	chromatin interactions
ENSG00000118804	chromatin interactions

Extended variants
information (count: 418 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3733251	chr4:77192838-77192839	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3733250	chr4:77192868-77192869	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs574751211	chr4:77192876-77192877	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534203291	chr4:77192917-77192918	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554242487	chr4:77192946-77192947	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577390613	chr4:77192959-77192960	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546368201	chr4:77193002-77193003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141636919	chr4:77193007-77193008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56071515	chr4:77193022-77193023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576562392	chr4:77193027-77193028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542480339	chr4:77193033-77193034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77440835	chr4:77193047-77193048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183715787	chr4:77193057-77193058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189574767	chr4:77193095-77193096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1441909	chr4:77193136-77193137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs532066833	chr4:77193160-77193161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551997521	chr4:77193171-77193172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77937770	chr4:77193208-77193209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
19	rs72655583	chr4:77193228-77193229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150682148	chr4:77193275-77193276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568347759	chr4:77193286-77193287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567423038	chr4:77193342-77193343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534108962	chr4:77193364-77193365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554207357	chr4:77193376-77193377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570154596	chr4:77193428-77193429	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1441910	chr4:77193449-77193450	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs539893614	chr4:77193538-77193539	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1441911	chr4:77193545-77193546	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117813286	chr4:77193566-77193567	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542042461	chr4:77193579-77193580	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139992433	chr4:77193590-77193591	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs66820534	chr4:77193649-77193650	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1441912	chr4:77193728-77193729	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1441913	chr4:77193742-77193743	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs544270215	chr4:77193773-77193774	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149864712	chr4:77193852-77193853	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545857335	chr4:77193900-77193901	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562463080	chr4:77193917-77193918	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146361897	chr4:77193935-77193936	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548059817	chr4:77194009-77194010	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568308690	chr4:77194023-77194024	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527575495	chr4:77194027-77194028	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547725323	chr4:77194044-77194045	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs59199771	chr4:77194046-77194047	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574595924	chr4:77194089-77194090	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12643334	chr4:77194092-77194093	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs181915460	chr4:77194146-77194147	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185324239	chr4:77194177-77194178	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs957346	chr4:77194217-77194218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs768980	chr4:77194221-77194222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77173600-77202000	Weak transcription	Psoas Muscle	Psoas
2	chr4:77173800-77196000	Weak transcription	Adipose Nuclei	Adipose
3	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:77177800-77199200	Weak transcription	Placenta	Placenta
5	chr4:77178800-77201200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:77180000-77202000	Weak transcription	Gastric	stomach
7	chr4:77182000-77194600	Weak transcription	Stomach Mucosa	stomach
8	chr4:77182400-77193400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:77183200-77193000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:77186400-77204200	Weak transcription	Aorta	Aorta
11	chr4:77186600-77196200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:77186600-77196800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:77186600-77215000	Weak transcription	Brain Anterior Caudate	brain
14	chr4:77187000-77196000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:77187600-77202000	Weak transcription	Brain Substantia Nigra	brain
16	chr4:77187800-77193800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:77188000-77202200	Weak transcription	Brain Angular Gyrus	brain
18	chr4:77188200-77202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:77188600-77193400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:77190400-77199200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:77191000-77193000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:77191800-77199400	Enhancers	Liver	Liver
23	chr4:77192000-77194400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr4:77192000-77194600	Enhancers	HepG2	liver
25	chr4:77192400-77193000	Strong transcription	Brain Cingulate Gyrus	brain
26	chr4:77192600-77193000	Strong transcription	Left Ventricle	heart
27	chr4:77192600-77212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:77192800-77197200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:77193000-77201800	Weak transcription	Left Ventricle	heart
30	chr4:77193000-77202000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:77193000-77202200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:77193400-77194000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr4:77193400-77194200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr4:77194000-77204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:77194200-77216400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:77194400-77195800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:77194600-77194800	Enhancers	Stomach Mucosa	stomach
38	chr4:77194600-77195000	Weak transcription	HepG2	liver
39	chr4:77194800-77195200	Weak transcription	Stomach Mucosa	stomach
40	chr4:77195000-77200200	Enhancers	HepG2	liver
41	chr4:77195200-77195400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr4:77195200-77197000	Enhancers	Stomach Mucosa	stomach
43	chr4:77195400-77199400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:77195800-77196000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr4:77195800-77196600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr4:77195800-77200400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr4:77196000-77196400	Enhancers	Adipose Nuclei	Adipose
48	chr4:77196000-77197000	Enhancers	Fetal Intestine Small	intestine
49	chr4:77196200-77196600	Enhancers	Fetal Intestine Large	intestine
50	chr4:77196200-77199600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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