Variant report

Variant	nsv967949
Chromosome Location	chr4:79511515-79527707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:437)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:79513629-79514043	K562	blood:	n/a	n/a
2	ARID3A	chr4:79522195-79522505	K562	blood:	n/a	n/a
3	ARID3A	chr4:79521022-79521826	K562	blood:	n/a	n/a
4	ATF1	chr4:79521027-79521528	K562	blood:	n/a	n/a
5	ATF2	chr4:79522183-79522516	GM12878	blood:	n/a	n/a
6	ATF2	chr4:79522172-79522590	GM12878	blood:	n/a	n/a
7	BATF	chr4:79522181-79522496	GM12878	blood:	n/a	chr4:79522385-79522395
8	BATF	chr4:79522162-79522514	GM12878	blood:	n/a	chr4:79522385-79522395 chr4:79522171-79522180
9	BCL11A	chr4:79522144-79522478	GM12878	blood:	n/a	chr4:79522388-79522397
10	BCL11A	chr4:79522195-79522584	GM12878	blood:	n/a	chr4:79522388-79522397
11	BCLAF1	chr4:79520906-79521434	K562	blood:	n/a	n/a
12	BHLHE40	chr4:79513622-79513826	K562	blood:	n/a	n/a
13	BHLHE40	chr4:79520998-79521465	K562	blood:	n/a	n/a
14	BHLHE40	chr4:79513114-79514006	GM12878	blood:	n/a	n/a
15	CBX3	chr4:79520554-79521457	K562	blood:	n/a	n/a
16	CBX3	chr4:79521013-79521372	K562	blood:	n/a	n/a
17	CCNT2	chr4:79521048-79521544	K562	blood:	n/a	chr4:79521418-79521438
18	CCNT2	chr4:79522215-79522646	K562	blood:	n/a	n/a
19	CCNT2	chr4:79512368-79512489	K562	blood:	n/a	n/a
20	CEBPB	chr4:79520964-79521386	K562	blood:	n/a	n/a
21	CEBPB	chr4:79512860-79513440	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr4:79519685-79519908	A549	lung:	n/a	chr4:79519749-79519760
23	CEBPB	chr4:79512949-79513065	A549	lung:	n/a	n/a
24	CEBPB	chr4:79519691-79519890	HepG2	liver:	n/a	chr4:79519749-79519760
25	CEBPB	chr4:79523262-79523448	K562	blood:	n/a	n/a
26	CEBPB	chr4:79519671-79519842	H1-hESC	embryonic stem cell:	n/a	chr4:79519749-79519760
27	CEBPB	chr4:79519538-79519805	K562	blood:	n/a	chr4:79519749-79519760
28	CEBPB	chr4:79519575-79519910	K562	blood:	n/a	chr4:79519749-79519760
29	CEBPB	chr4:79520902-79521455	K562	blood:	n/a	n/a
30	CEBPB	chr4:79521010-79521333	K562	blood:	n/a	n/a
31	CEBPB	chr4:79520329-79520614	K562	blood:	n/a	n/a
32	CEBPD	chr4:79520924-79521513	K562	blood:	n/a	n/a
33	CEBPD	chr4:79520931-79521517	K562	blood:	n/a	n/a
34	CTCF	chr4:79513620-79513770	HRE	kidney:	n/a	n/a
35	CTCF	chr4:79513680-79513830	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr4:79511639-79511736	GM12878	blood:	n/a	n/a
37	CTCF	chr4:79513624-79513766	LNCaP	prostate:	n/a	n/a
38	CTCF	chr4:79513620-79513770	GM12866	blood:	n/a	n/a
39	CTCF	chr4:79513659-79513770	GM20000	blood:	n/a	n/a
40	CTCF	chr4:79513680-79513830	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr4:79513720-79513870	NHLF	lung:	n/a	n/a
42	CTCF	chr4:79522307-79522369	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:79513720-79513870	NHEK	skin:	n/a	n/a
44	CTCF	chr4:79522138-79522448	K562	blood:	n/a	n/a
45	CTCF	chr4:79513580-79513730	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr4:79513673-79513779	Lung_OC	lung:	n/a	n/a
47	CTCF	chr4:79513540-79513690	HCM	heart:	n/a	n/a
48	CTCF	chr4:79513780-79513930	HMEC	breast:	n/a	n/a
49	CTCF	chr4:79513300-79513450	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr4:79522286-79522325	GM10266	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79509559..79512008-chr4:79512168..79514182,2	K562	blood:
2	chr4:79522193..79524527-chr4:79697309..79699707,2	MCF-7	breast:
3	chr4:79497002..79499734-chr4:79510195..79513033,2	K562	blood:
4	chr4:79514162..79516035-chr4:79524140..79525956,2	K562	blood:
5	chr4:79513623..79515338-chr4:79515610..79517410,2	K562	blood:
6	chr4:79527192..79529448-chr4:79696631..79698650,2	K562	blood:
7	chr4:79513272..79514062-chr4:79785483..79786626,3	K562	blood:
8	chr4:79520729..79523356-chr4:79524267..79526444,2	K562	blood:
9	chr4:79513623..79515338-chr4:79515610..79517410,2	K562	blood:
10	chr4:79505629..79508109-chr4:79509982..79512936,2	K562	blood:
11	chr4:79513931..79517540-chr4:79518981..79521384,5	K562	blood:
12	chr4:79502435..79504816-chr4:79510543..79512063,3	K562	blood:
13	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
14	chr4:79521039..79522736-chr4:79591795..79594005,2	K562	blood:
15	chr4:79494956..79497942-chr4:79518671..79521873,3	K562	blood:
16	chr4:79527063..79529896-chr4:79532184..79534959,3	K562	blood:
17	chr4:79515008..79517115-chr4:79611076..79613175,2	K562	blood:
18	chr4:79519658..79522109-chr4:79547092..79548790,2	K562	blood:
19	chr4:79510631..79512821-chr4:79838230..79840784,2	K562	blood:
20	chr4:79514162..79516035-chr4:79524140..79525956,2	K562	blood:
21	chr4:79509559..79512008-chr4:79512168..79514182,2	K562	blood:
22	chr4:79526850..79529113-chr4:79529739..79531752,2	K562	blood:
23	chr4:79513931..79517540-chr4:79518981..79521384,5	K562	blood:

No data

Variant related genes	Relation type
ANXA3	TF binding region
ENSG00000138772	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000260278	chromatin interactions

Extended variants
information (count: 649 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13340224	chr4:79511539-79511540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193079566	chr4:79511554-79511555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564569453	chr4:79511593-79511594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530412050	chr4:79511658-79511659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17003373	chr4:79511821-79511822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536522601	chr4:79511877-79511878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529744532	chr4:79511903-79511904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546886047	chr4:79511916-79511917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185281726	chr4:79511920-79511921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532876937	chr4:79511939-79511940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112483671	chr4:79511949-79511950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552881046	chr4:79511957-79511958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531828660	chr4:79511989-79511990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569308912	chr4:79511998-79511999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190624507	chr4:79512017-79512018	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77890881	chr4:79512070-79512071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12641838	chr4:79512074-79512075	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs193140822	chr4:79512092-79512093	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12642521	chr4:79512100-79512101	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs560554456	chr4:79512151-79512152	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184947306	chr4:79512165-79512166	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116098390	chr4:79512169-79512170	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544939043	chr4:79512187-79512188	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558423158	chr4:79512197-79512198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150232157	chr4:79512239-79512240	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543864101	chr4:79512293-79512294	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578115306	chr4:79512346-79512347	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560898156	chr4:79512362-79512363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529765145	chr4:79512382-79512383	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540293610	chr4:79512384-79512385	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118060889	chr4:79512437-79512438	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532737219	chr4:79512438-79512439	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552944537	chr4:79512485-79512486	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569575211	chr4:79512488-79512489	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531993144	chr4:79512511-79512512	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548309089	chr4:79512576-79512577	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568416687	chr4:79512594-79512595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534063716	chr4:79512600-79512601	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188097059	chr4:79512616-79512617	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544046330	chr4:79512619-79512620	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566372150	chr4:79512648-79512649	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202227040	chr4:79512662-79512663	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374970406	chr4:79512666-79512667	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs41278061	chr4:79512667-79512668	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376948856	chr4:79512700-79512701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201122822	chr4:79512709-79512710	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150941496	chr4:79512731-79512732	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140470799	chr4:79512732-79512733	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145647753	chr4:79512733-79512734	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144535003	chr4:79512752-79512753	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
3	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:79488400-79523600	Weak transcription	Esophagus	oesophagus
5	chr4:79488400-79527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79488600-79512200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:79489800-79513600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:79490000-79523400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:79490600-79521000	Weak transcription	Fetal Heart	heart
10	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:79491000-79512200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
13	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:79491600-79512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:79491800-79542600	Weak transcription	NH-A	brain
17	chr4:79492000-79531600	Strong transcription	HMEC	breast
18	chr4:79500000-79522200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:79501400-79516000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
21	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
22	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:79503200-79521800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:79503800-79512000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:79505800-79517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:79506200-79512000	Strong transcription	NHEK	skin
27	chr4:79506400-79517200	Weak transcription	Pancreas	Pancrea
28	chr4:79506400-79517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:79506800-79523800	Weak transcription	Placenta	Placenta
30	chr4:79507000-79511600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:79507000-79512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:79507000-79512600	Weak transcription	NHLF	lung
33	chr4:79507000-79513000	Weak transcription	Stomach Mucosa	stomach
34	chr4:79507000-79513400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:79507000-79513400	Weak transcription	K562	blood
36	chr4:79507600-79521000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:79508600-79523600	Weak transcription	Adipose Nuclei	Adipose
39	chr4:79508800-79525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:79508800-79527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:79508800-79527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:79509600-79515200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:79510000-79512200	Weak transcription	Gastric	stomach
44	chr4:79510000-79512200	Weak transcription	HUVEC	blood vessel
45	chr4:79510000-79517200	Weak transcription	Fetal Stomach	stomach
46	chr4:79510000-79518800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:79510000-79520600	Weak transcription	Lung	lung
48	chr4:79510200-79512200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:79510200-79512400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:79510400-79513600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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