Variant report

Variant	nsv966280
Chromosome Location	chr4:70238055-70318534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:666)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:70274315-70274516	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:70254846-70255212	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:70296492-70296914	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:70296492-70296919	K562	blood:	n/a	n/a
5	ATF1	chr4:70296489-70296914	K562	blood:	n/a	n/a
6	ATF3	chr4:70296552-70296826	A549	lung:	n/a	n/a
7	ATF3	chr4:70296558-70296973	A549	lung:	n/a	n/a
8	ATF3	chr4:70296574-70296796	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr4:70296499-70296777	HepG2	liver:	n/a	n/a
10	BACH1	chr4:70296489-70296908	K562	blood:	n/a	n/a
11	BATF	chr4:70296589-70296863	GM12878	blood:	n/a	chr4:70296823-70296832
12	BATF	chr4:70296590-70296824	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:70296551-70296867	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:70296596-70296779	GM12878	blood:	n/a	n/a
15	BCL11A	chr4:70296569-70296786	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr4:70296603-70296770	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr4:70296436-70296843	A549	lung:	n/a	n/a
18	BCL3	chr4:70296548-70296829	A549	lung:	n/a	n/a
19	BCLAF1	chr4:70296549-70296826	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:70296485-70296909	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:70296483-70296924	K562	blood:	n/a	n/a
22	BRCA1	chr4:70296484-70296924	GM12878	blood:	n/a	n/a
23	BRCA1	chr4:70296486-70296910	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr4:70296483-70296909	HepG2	liver:	n/a	n/a
25	CBX3	chr4:70290507-70290706	K562	blood:	n/a	n/a
26	CCNT2	chr4:70296445-70296895	K562	blood:	n/a	n/a
27	CEBPB	chr4:70296486-70296925	K562	blood:	n/a	n/a
28	CEBPB	chr4:70296492-70296908	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr4:70296570-70296806	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:70276530-70276708	HepG2	liver:	n/a	n/a
31	CEBPB	chr4:70254941-70255152	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:70302923-70302937	HepG2	liver:	n/a	n/a
33	CEBPB	chr4:70296589-70296760	HepG2	liver:	n/a	n/a
34	CEBPD	chr4:70296470-70296789	HepG2	liver:	n/a	n/a
35	CEBPD	chr4:70296548-70296776	HepG2	liver:	n/a	n/a
36	CEBPD	chr4:70296588-70296895	K562	blood:	n/a	n/a
37	CHD1	chr4:70296484-70296924	GM12878	blood:	n/a	n/a
38	CHD2	chr4:70296483-70296910	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr4:70296490-70296924	GM12878	blood:	n/a	n/a
40	CHD2	chr4:70296483-70296909	K562	blood:	n/a	n/a
41	CHD2	chr4:70296447-70296925	HepG2	liver:	n/a	n/a
42	CREB1	chr4:70296590-70296782	A549	lung:	n/a	n/a
43	CTBP2	chr4:70296490-70296910	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr4:70296484-70296925	K562	blood:	n/a	n/a
45	CTCF	chr4:70296640-70296790	AG09319	gingival:	n/a	n/a
46	CTCF	chr4:70296620-70296770	GM12873	blood:	n/a	n/a
47	CTCF	chr4:70296580-70296730	AG04449	skin:	n/a	n/a
48	CTCF	chr4:70296580-70296730	AG09319	gingival:	n/a	n/a
49	CTCF	chr4:70293453-70293477	GM10266	blood:	n/a	n/a
50	CTCF	chr4:70296580-70296730	NHEK	skin:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133038471..133039156-chr4:70296229..70297178,3	MCF-7	breast:
2	chr21:9824058..9826515-chr4:70295211..70298169,2	K562	blood:
3	chr21:9825015..9827465-chr4:70296669..70298179,2	K562	blood:
4	chr2:133011384..133014243-chr4:70295163..70298145,2	K562	blood:
5	chr4:70296625..70297182-chr6:133594074..133594625,3	MCF-7	breast:
6	chr19:36066562..36067220-chr4:70296617..70297159,2	MCF-7	breast:
7	chr4:70262708..70264895-chr4:70280098..70283006,2	K562	blood:
8	chr19:24184130..24184632-chr4:70296678..70297183,2	MCF-7	breast:
9	chr19:24183615..24184637-chr4:70296138..70296644,3	K562	blood:
10	chr4:70262708..70264895-chr4:70280098..70283006,2	K562	blood:
11	chr2:169797130..169797902-chr4:70311918..70312713,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B28-6	chr4:70303075-70303156	NONHSAT096765
2	lnc-UGT2B28-5	chr4:70272649-70273373	NONHSAT096764
3	lnc-UGT2B28-6	chr4:70304044-70304260	NONHSAT096765
4	lnc-UGT2B28-7	chr4:70315732-70315864	NONHSAT096766
5	lnc-UGT2B28-4	chr4:70253298-70254025	NONHSAT096763
6	lnc-UGT2B28-6	chr4:70306600-70306768	NONHSAT096765
7	lnc-UGT2B28-7	chr4:70317229-70317331	NONHSAT096766

No data

Variant related genes	Relation type
ENSG00000248824	TF binding region
ENSG00000249686	TF binding region
ENSG00000268209	TF binding region
ENSG00000215110	TF binding region
ENSG00000250828	TF binding region
ENSG00000249956	TF binding region
ENSG00000264063	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 815 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191258885	chr4:70244226-70244227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182306316	chr4:70244266-70244267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150643220	chr4:70244270-70244271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546371502	chr4:70244275-70244276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201810941	chr4:70244280-70244281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139725017	chr4:70244314-70244315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187057004	chr4:70244326-70244327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547047060	chr4:70244338-70244339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566760695	chr4:70244408-70244409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535790240	chr4:70244411-70244412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549199020	chr4:70244419-70244420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569026795	chr4:70244429-70244430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562903042	chr4:70244439-70244440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537654941	chr4:70244448-70244449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76157787	chr4:70244475-70244476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557800694	chr4:70244500-70244501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577687388	chr4:70244513-70244514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533881379	chr4:70244520-70244521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547757031	chr4:70244522-70244523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149783956	chr4:70244556-70244557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145702702	chr4:70244564-70244565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141892157	chr4:70244567-70244568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77804951	chr4:70244580-70244581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575757139	chr4:70244588-70244589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367607661	chr4:70244596-70244597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544498475	chr4:70244616-70244617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192733548	chr4:70244626-70244627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185211059	chr4:70244628-70244629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547010133	chr4:70244633-70244634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190090250	chr4:70244679-70244680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11532632	chr4:70244683-70244684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529310571	chr4:70244696-70244697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375016565	chr4:70244697-70244698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199814961	chr4:70244706-70244707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569074864	chr4:70244740-70244741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115488842	chr4:70244764-70244765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543961229	chr4:70253307-70253308	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs531927306	chr4:70253329-70253330	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs563768622	chr4:70253337-70253338	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs552046202	chr4:70253345-70253346	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs571649862	chr4:70253362-70253363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs534255101	chr4:70253371-70253372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs553986736	chr4:70253381-70253382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs567620446	chr4:70253393-70253394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536272819	chr4:70253419-70253420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs376836650	chr4:70253420-70253421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs574123875	chr4:70253434-70253435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs542666956	chr4:70253448-70253449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs367655751	chr4:70253471-70253472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs544800335	chr4:70253523-70253524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Oral cancer	21386901	CNVD
Chronic lymphocytic leukemia	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70244200-70244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:70265000-70265400	Enhancers	Fetal Heart	heart
3	chr4:70295800-70296400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:70296400-70296800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:70296400-70297000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr4:70296400-70297000	ZNF genes & repeats	Gastric	stomach
7	chr4:70296400-70297000	ZNF genes & repeats	Right Atrium	heart
8	chr4:70296400-70297000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
9	chr4:70296400-70297000	Flanking Bivalent TSS/Enh	Spleen	Spleen
10	chr4:70296600-70296800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:70296600-70296800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
14	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:70296600-70296800	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
17	chr4:70296600-70296800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr4:70296600-70296800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
20	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:70296600-70296800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
23	chr4:70296600-70296800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr4:70296600-70296800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:70296600-70296800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:70296600-70296800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Aorta	Aorta
31	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
32	chr4:70296600-70296800	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
35	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
36	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr4:70296600-70296800	Bivalent Enhancer	Fetal Heart	heart
38	chr4:70296600-70296800	ZNF genes & repeats	Fetal Kidney	kidney
39	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Ovary	ovary
43	chr4:70296600-70296800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
44	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr4:70296600-70296800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr4:70296600-70296800	Flanking Bivalent TSS/Enh	Small Intestine	intestine
49	chr4:70296600-70296800	ZNF genes & repeats	Thymus	Thymus
50	chr4:70296600-70296800	ZNF genes & repeats	HUVEC	blood vessel

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