Variant report

Variant	nsv596052
Chromosome Location	chr4:166454826-166488615
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	CEBPB	chr4:166458874-166458984	HepG2	liver:	n/a	chr4:166458896-166458907
2	CTCF	chr4:166458300-166458450	HUVEC	blood vessel:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
3	CTCF	chr4:166454840-166454990	Caco-2	colon:	n/a	n/a
4	CTCF	chr4:166458280-166458430	AG09309	skin:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
5	CTCF	chr4:166458223-166458497	HUVEC	blood vessel:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
6	CTCF	chr4:166458300-166458450	NHEK	skin:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
7	CTCF	chr4:166458300-166458450	HPF	lung:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
8	CTCF	chr4:166458280-166458430	GM12878	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
9	CTCF	chr4:166458189-166458441	T-47D	breast:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
10	CTCF	chr4:166458300-166458450	GM12875	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
11	CTCF	chr4:166458237-166458450	LNCaP	prostate:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
12	CTCF	chr4:166458276-166458323	GM12892	blood:	n/a	n/a
13	CTCF	chr4:166458300-166458450	GM12865	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
14	CTCF	chr4:166458260-166458410	HepG2	liver:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
15	CTCF	chr4:166458300-166458450	HMF	breast:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
16	CTCF	chr4:166458240-166458390	HA-sp	spinal cord:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
17	CTCF	chr4:166458240-166458390	WERI-Rb-1	eye:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
18	CTCF	chr4:166458200-166458350	GM06990	blood:	n/a	n/a
19	CTCF	chr4:166458340-166458490	RPTEC	kidney:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
20	CTCF	chr4:166461484-166461554	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:166458200-166458350	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr4:166458520-166458670	NHLF	lung:	n/a	n/a
23	CTCF	chr4:166457940-166458090	AG10803	skin:	n/a	n/a
24	CTCF	chr4:166470780-166470930	BE2_C	brain:	n/a	n/a
25	CTCF	chr4:166458233-166458438	HepG2	liver:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
26	CTCF	chr4:166457940-166458090	HMF	breast:	n/a	n/a
27	CTCF	chr4:166458280-166458430	AG04450	lung:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
28	CTCF	chr4:166458139-166458542	H1-hESC	embryonic stem cell:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
29	CTCF	chr4:166458600-166458750	AG10803	skin:	n/a	n/a
30	CTCF	chr4:166457920-166458070	GM12873	blood:	n/a	n/a
31	CTCF	chr4:166458260-166458430	GM10248	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
32	CTCF	chr4:166458224-166458479	K562	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
33	CTCF	chr4:166458260-166458410	HL-60	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
34	CTCF	chr4:166458239-166458414	MCF-7	breast:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
35	CTCF	chr4:166458185-166458639	HCT-116	colon:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
36	CTCF	chr4:166458260-166458410	HFF	foreskin:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
37	CTCF	chr4:166458300-166458450	GM12872	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
38	CTCF	chr4:166458254-166458339	GM19238	blood:	n/a	n/a
39	CTCF	chr4:166458300-166458450	AG09319	gingival:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
40	CTCF	chr4:166458149-166458587	K562	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
41	CTCF	chr4:166458280-166458430	MCF-7	breast:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
42	CTCF	chr4:166458154-166458527	K562	blood:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
43	CTCF	chr4:166458260-166458410	BE2_C	brain:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
44	CTCF	chr4:166458210-166458438	Gliobla	brain:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
45	CTCF	chr4:166458280-166458430	AG04449	skin:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
46	CTCF	chr4:166458132-166458479	A549	lung:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
47	CTCF	chr4:166458260-166458410	Hela-S3	cervix:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
48	CTCF	chr4:166458280-166458430	HA-sp	spinal cord:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372
49	CTCF	chr4:166458100-166458250	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr4:166458340-166458490	NHEK	skin:	n/a	chr4:166458356-166458377 chr4:166458355-166458371 chr4:166458359-166458367 chr4:166458354-166458372

No.	Distal block	Cell Line	Cell type
1	chr4:166457407..166458582-chr4:167012763..167013739,5	MCF-7	breast:
2	chr4:166457869..166458829-chr4:166621749..166622649,2	MCF-7	breast:
3	chr4:166458106..166458875-chr4:166702316..166703340,5	MCF-7	breast:
4	chr4:166459248..166460151-chr4:167012754..167013285,2	K562	blood:
5	chr4:166470788..166473648-chr4:166473898..166476152,2	MCF-7	breast:
6	chr4:166458088..166458621-chr4:166702621..166703139,2	MCF-7	breast:
7	chr4:166463048..166465958-chr4:166466344..166468402,2	K562	blood:
8	chr4:166463048..166465958-chr4:166466344..166468402,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPE-2	chr4:166475769-166475996	expReg_chr4_8203_+

Variant related genes	Relation type
ENSG00000248327	TF binding region
ENSG00000248327	chromatin interactions

Extended variants
information (count: 1101 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7689185	chr4:166454826-166454827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181897065	chr4:166454875-166454876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576348746	chr4:166454885-166454886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141941871	chr4:166454887-166454888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565414508	chr4:166454909-166454910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75789332	chr4:166454927-166454928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7664890	chr4:166454935-166454936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559441982	chr4:166454964-166454965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530432466	chr4:166455032-166455033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386681683	chr4:166455037-166455038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7665408	chr4:166455038-166455039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531043617	chr4:166455040-166455041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147339289	chr4:166455084-166455085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184882358	chr4:166455085-166455086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538306997	chr4:166455117-166455118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7664983	chr4:166455125-166455126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141000794	chr4:166455167-166455168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536238800	chr4:166455180-166455181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554928520	chr4:166455230-166455231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80150178	chr4:166455246-166455247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189693501	chr4:166455254-166455255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558758985	chr4:166455256-166455257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144654316	chr4:166455273-166455274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17046676	chr4:166455306-166455307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559789143	chr4:166455325-166455326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111711417	chr4:166455371-166455372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542190893	chr4:166455372-166455373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57104235	chr4:166455380-166455381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531080390	chr4:166455382-166455383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552355495	chr4:166455412-166455413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368004023	chr4:166455428-166455429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577907462	chr4:166455429-166455430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139239528	chr4:166455499-166455500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534061420	chr4:166455532-166455533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181043735	chr4:166455567-166455568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565743759	chr4:166455653-166455654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117180517	chr4:166455659-166455660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149718819	chr4:166455722-166455723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3073957	chr4:166455743-166455744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3220217	chr4:166455755-166455756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150010112	chr4:166455786-166455787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569990641	chr4:166455797-166455798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186282518	chr4:166455825-166455826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2322122	chr4:166455839-166455840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs17046679	chr4:166455856-166455857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534814234	chr4:166455864-166455865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17046681	chr4:166455904-166455905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11732174	chr4:166455917-166455918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191529706	chr4:166455931-166455932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563295199	chr4:166455932-166455933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166438800-166462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:166454600-166455400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:166457400-166457600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:166458200-166458400	Enhancers	Colon Smooth Muscle	Colon
5	chr4:166461400-166461800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:166461400-166462000	Enhancers	Fetal Intestine Large	intestine
7	chr4:166461400-166462200	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:166461400-166462200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr4:166461400-166462200	Enhancers	Osteobl	bone
10	chr4:166461400-166462400	Enhancers	Fetal Intestine Small	intestine
11	chr4:166461600-166461800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr4:166461800-166462200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:166462000-166462200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:166462000-166462200	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr4:166462000-166464200	Weak transcription	Fetal Brain Male	brain
16	chr4:166463000-166463400	Enhancers	Fetal Brain Female	brain
17	chr4:166464200-166464800	Enhancers	Fetal Brain Male	brain
18	chr4:166468400-166468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:166468600-166469000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:166468600-166469200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:166475800-166477800	Enhancers	HUVEC	blood vessel
22	chr4:166476400-166476800	Enhancers	Fetal Heart	heart
23	chr4:166477200-166483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:166481000-166481600	Active TSS	Aorta	Aorta
25	chr4:166482000-166482600	Enhancers	Osteobl	bone
26	chr4:166482600-166484200	Weak transcription	Osteobl	bone
27	chr4:166483000-166483200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:166483200-166485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:166484200-166484400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:166484200-166485400	Enhancers	Osteobl	bone
31	chr4:166484400-166485000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:166485000-166485400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:166485000-166485600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:166485000-166485600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:166485000-166485600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:166485000-166485600	Enhancers	NHEK	skin
37	chr4:166485000-166485800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:166485000-166486000	Enhancers	HMEC	breast
39	chr4:166485200-166485600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:166485200-166485600	Enhancers	NH-A	brain
41	chr4:166485600-166488600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:166488600-166489000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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