Variant report

Variant	nsv967756
Chromosome Location	chr4:69726911-69750058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:324)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:69736479-69738539	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69749583-69750031	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:69730036-69730982	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:69729954-69730646	K562	blood:	n/a	n/a
5	ATF1	chr4:69730145-69730592	K562	blood:	n/a	n/a
6	ATF3	chr4:69730144-69730551	K562	blood:	n/a	n/a
7	BHLHE40	chr4:69730154-69730623	K562	blood:	n/a	n/a
8	CBX3	chr4:69730066-69730440	K562	blood:	n/a	n/a
9	CCNT2	chr4:69739146-69739289	K562	blood:	n/a	n/a
10	CCNT2	chr4:69730149-69730560	K562	blood:	n/a	n/a
11	CEBPB	chr4:69730156-69730448	HepG2	liver:	n/a	n/a
12	CEBPB	chr4:69736614-69737153	HepG2	liver:	n/a	chr4:69736964-69736975
13	CEBPB	chr4:69726843-69727112	HepG2	liver:	n/a	chr4:69726927-69726938
14	CEBPB	chr4:69736878-69737053	HepG2	liver:	n/a	chr4:69736964-69736975
15	CEBPB	chr4:69747100-69747198	HepG2	liver:	n/a	chr4:69747117-69747128
16	CEBPB	chr4:69730044-69730628	K562	blood:	n/a	n/a
17	CEBPB	chr4:69730091-69730606	HepG2	liver:	n/a	n/a
18	CEBPB	chr4:69736814-69737153	HepG2	liver:	n/a	chr4:69736964-69736975
19	CEBPB	chr4:69736848-69737078	A549	lung:	n/a	chr4:69736964-69736975
20	CEBPB	chr4:69737461-69737783	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:69730120-69730588	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:69736927-69737111	K562	blood:	n/a	chr4:69736964-69736975
23	CEBPB	chr4:69730223-69730555	K562	blood:	n/a	n/a
24	CEBPB	chr4:69749684-69749947	HepG2	liver:	n/a	n/a
25	CEBPB	chr4:69736853-69737111	HepG2	liver:	n/a	chr4:69736964-69736975
26	CEBPB	chr4:69730188-69730552	HepG2	liver:	n/a	n/a
27	CEBPB	chr4:69730150-69730642	K562	blood:	n/a	n/a
28	CEBPD	chr4:69730054-69730667	K562	blood:	n/a	n/a
29	CEBPD	chr4:69730019-69730648	K562	blood:	n/a	n/a
30	CEBPD	chr4:69736834-69737096	HepG2	liver:	n/a	n/a
31	CREB1	chr4:69736425-69736957	HepG2	liver:	n/a	n/a
32	CREB1	chr4:69730084-69730687	K562	blood:	n/a	n/a
33	CTCF	chr4:69739016-69739044	GM12878	blood:	n/a	n/a
34	CTCF	chr4:69738940-69739090	RPTEC	kidney:	n/a	n/a
35	CTCF	chr4:69731460-69731610	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:69749527-69749615	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr4:69746760-69746910	GM12871	blood:	n/a	n/a
38	CTCF	chr4:69730559-69730589	GM10266	blood:	n/a	n/a
39	CTCF	chr4:69738980-69739048	K562	blood:	n/a	n/a
40	CTCF	chr4:69731540-69731690	GM12871	blood:	n/a	n/a
41	CUX1	chr4:69730045-69730471	K562	blood:	n/a	n/a
42	CUX1	chr4:69728035-69728084	GM12878	blood:	n/a	n/a
43	CUX1	chr4:69739073-69739082	GM12878	blood:	n/a	n/a
44	EGR1	chr4:69730163-69730502	K562	blood:	n/a	n/a
45	EGR1	chr4:69730114-69730535	K562	blood:	n/a	n/a
46	EP300	chr4:69730037-69730621	HepG2	liver:	n/a	n/a
47	EP300	chr4:69737363-69738603	HepG2	liver:	n/a	n/a
48	EP300	chr4:69738090-69738509	HepG2	liver:	n/a	n/a
49	EP300	chr4:69749449-69750091	HepG2	liver:	n/a	n/a
50	EP300	chr4:69738567-69738750	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:69730473..69734007-chr4:69770100..69773388,5	MCF-7	breast:
2	chr4:69728116..69730348-chr4:69734174..69736815,2	K562	blood:
3	chr4:69730313..69732082-chr4:69762356..69764791,2	MCF-7	breast:
4	chr4:69590462..69592610-chr4:69729563..69731579,3	MCF-7	breast:
5	chr3:36661361..36662236-chr4:69737331..69737873,2	MCF-7	breast:
6	chr4:69728116..69730348-chr4:69734174..69736815,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2A3-8	chr4:69743344-69743608	NONHSAT096744
2	lnc-UGT2A3-6	chr4:69749603-69750158	NONHSAT096745
3	lnc-UGT2A3-8	chr4:69745624-69745849	NONHSAT096744

No data

Variant related genes	Relation type
ENSG00000249235	TF binding region
ENSG00000251529	TF binding region
ENSG00000272626	chromatin interactions

Extended variants
information (count: 977 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:977 , 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	rs138596333	chr4:69726930-69726931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546208514	chr4:69726938-69726939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559474675	chr4:69726940-69726941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148885000	chr4:69726959-69726960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548390422	chr4:69726980-69726981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185534265	chr4:69727000-69727001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561606575	chr4:69727005-69727006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530685497	chr4:69727102-69727103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550910988	chr4:69727125-69727126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570730655	chr4:69727144-69727145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539330402	chr4:69727156-69727157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76467799	chr4:69727160-69727161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572054247	chr4:69727196-69727197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78060896	chr4:69727220-69727221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111427790	chr4:69727231-69727232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373999860	chr4:69727232-69727233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554994453	chr4:69727236-69727237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74918248	chr4:69727238-69727239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537212556	chr4:69727257-69727258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79226128	chr4:69727258-69727259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561979835	chr4:69727267-69727268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368852497	chr4:69727272-69727273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546173190	chr4:69727275-69727276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191664732	chr4:69727276-69727277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375604309	chr4:69727287-69727288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571670681	chr4:69727297-69727298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13123929	chr4:69727312-69727313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs562130269	chr4:69727323-69727324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530746974	chr4:69727347-69727348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181728321	chr4:69727349-69727350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534539172	chr4:69727364-69727365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187370717	chr4:69727415-69727416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533298374	chr4:69727437-69727438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192092528	chr4:69727444-69727445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529054956	chr4:69727451-69727452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529511380	chr4:69727484-69727485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549499437	chr4:69727532-69727533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546573017	chr4:69727547-69727548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148125877	chr4:69727586-69727587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528841400	chr4:69727592-69727593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112472440	chr4:69727612-69727613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548681769	chr4:69727629-69727630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568642591	chr4:69727653-69727654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537533596	chr4:69727667-69727668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569909260	chr4:69727668-69727669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557175140	chr4:69727672-69727673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7674919	chr4:69727682-69727683	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs182761412	chr4:69727713-69727714	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186891424	chr4:69727723-69727724	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs114719909	chr4:69727732-69727733	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69719800-69736600	Weak transcription	Pancreas	Pancrea
2	chr4:69726600-69728200	Enhancers	Liver	Liver
3	chr4:69726800-69728600	Enhancers	HepG2	liver
4	chr4:69728000-69728200	Enhancers	K562	blood
5	chr4:69728200-69729400	Weak transcription	Liver	Liver
6	chr4:69728200-69732800	Weak transcription	K562	blood
7	chr4:69728400-69728600	Enhancers	Fetal Intestine Large	intestine
8	chr4:69728600-69729200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:69728600-69729400	Weak transcription	HepG2	liver
10	chr4:69729200-69732600	Enhancers	Fetal Intestine Large	intestine
11	chr4:69729400-69730000	Enhancers	Liver	Liver
12	chr4:69729400-69730200	Enhancers	HepG2	liver
13	chr4:69729600-69733000	Enhancers	Fetal Intestine Small	intestine
14	chr4:69729800-69730000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr4:69729800-69730000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:69729800-69730600	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:69729800-69730600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:69730000-69730400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:69730000-69730400	Enhancers	A549	lung
20	chr4:69730000-69730600	Flanking Active TSS	Liver	Liver
21	chr4:69730000-69730600	Active TSS	Duodenum Mucosa	Duodenum
22	chr4:69730000-69730600	Enhancers	Stomach Mucosa	stomach
23	chr4:69730000-69731400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:69730200-69730600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:69730200-69730600	Flanking Active TSS	HepG2	liver
26	chr4:69730200-69731200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:69730200-69731800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:69730400-69730600	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr4:69730400-69730600	Flanking Active TSS	A549	lung
30	chr4:69730600-69731000	Weak transcription	Stomach Mucosa	stomach
31	chr4:69730600-69731400	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:69730600-69731600	Enhancers	A549	lung
33	chr4:69730600-69731800	Enhancers	Liver	Liver
34	chr4:69730600-69733200	Enhancers	HepG2	liver
35	chr4:69730600-69736400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:69730600-69738600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:69731000-69731600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:69731000-69732400	Enhancers	Stomach Mucosa	stomach
39	chr4:69731400-69736400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:69731800-69733600	Weak transcription	Liver	Liver
41	chr4:69732400-69737000	Weak transcription	Stomach Mucosa	stomach
42	chr4:69732600-69734800	Weak transcription	Fetal Intestine Large	intestine
43	chr4:69732800-69733000	Enhancers	K562	blood
44	chr4:69733000-69734800	Weak transcription	Fetal Intestine Small	intestine
45	chr4:69733200-69733800	Weak transcription	HepG2	liver
46	chr4:69733600-69735200	Enhancers	Liver	Liver
47	chr4:69733800-69734000	Enhancers	HepG2	liver
48	chr4:69734000-69735200	Weak transcription	HepG2	liver
49	chr4:69734800-69735000	Enhancers	Fetal Intestine Large	intestine
50	chr4:69734800-69735400	ZNF genes & repeats	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links