Variant report

Variant	nsv4883
Chromosome Location	chr5:75360926-75373963
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	BACH1	chr5:75367703-75367725	K562	blood:	n/a	n/a
2	CTCF	chr5:75370400-75370550	HRPEpiC	eye:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
3	CTCF	chr5:75370435-75370607	A549	lung:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
4	CTCF	chr5:75370437-75370607	SK-N-SH_RA	brain:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
5	CTCF	chr5:75370420-75370570	WERI-Rb-1	eye:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
6	CTCF	chr5:75370460-75370610	HBMEC	blood vessel:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
7	CTCF	chr5:75370360-75370510	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr5:75370540-75370690	AG04450	lung:	n/a	n/a
9	CTCF	chr5:75370427-75370596	Spleen_OC	spleen:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
10	CTCF	chr5:75370398-75370612	HUVEC	blood vessel:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
11	CTCF	chr5:75370438-75370606	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
12	CTCF	chr5:75370418-75370612	HepG2	liver:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
13	CTCF	chr5:75370420-75370570	GM12868	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
14	CTCF	chr5:75370440-75370590	GM12864	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
15	CTCF	chr5:75370420-75370570	GM12869	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
16	CTCF	chr5:75370440-75370590	AG04449	skin:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
17	CTCF	chr5:75369410-75369483	LNCaP	prostate:	n/a	n/a
18	CTCF	chr5:75370460-75370610	GM12866	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
19	CTCF	chr5:75370520-75370670	HAc	cerebellar:	n/a	n/a
20	CTCF	chr5:75370460-75370610	GM12873	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
21	CTCF	chr5:75370439-75370600	NHEK	skin:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
22	CTCF	chr5:75362681-75362741	GM13977	blood:	n/a	n/a
23	CTCF	chr5:75370440-75370590	Caco-2	colon:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
24	CTCF	chr5:75370437-75370582	GM19239	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
25	CTCF	chr5:75370420-75370570	AoAF	blood vessel:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
26	CTCF	chr5:75370420-75370570	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
27	CTCF	chr5:75370440-75370590	GM12866	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
28	CTCF	chr5:75370440-75370590	GM12868	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
29	CTCF	chr5:75370446-75370615	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
30	CTCF	chr5:75370380-75370530	HMF	breast:	n/a	chr5:75370513-75370522
31	CTCF	chr5:75370440-75370590	GM12873	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
32	CTCF	chr5:75370426-75370626	GM19238	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
33	CTCF	chr5:75370400-75370550	HCT-116	colon:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
34	CTCF	chr5:75370400-75370550	AG04450	lung:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
35	CTCF	chr5:75370424-75370583	GM20000	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
36	CTCF	chr5:75370339-75370700	K562	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
37	CTCF	chr5:75370360-75370510	HVMF	connective:	n/a	n/a
38	CTCF	chr5:75370460-75370610	HRE	kidney:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
39	CTCF	chr5:75370460-75370610	HVMF	connective:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
40	CTCF	chr5:75370412-75370625	Lung_OC	lung:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
41	CTCF	chr5:75370420-75370591	GM13976	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
42	CTCF	chr5:75370360-75370510	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr5:75370460-75370610	GM12875	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
44	CTCF	chr5:75370440-75370590	Hela-S3	cervix:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
45	CTCF	chr5:75370440-75370590	HEK293	kidney:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
46	CTCF	chr5:75370385-75370650	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
47	CTCF	chr5:75370380-75370616	HepG2	liver:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
48	CTCF	chr5:75370420-75370570	HEEpiC	esophagus:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
49	CTCF	chr5:75370440-75370590	NHEK	skin:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
50	CTCF	chr5:75370388-75370634	Pancreas_OC	pancreas:	n/a	chr5:75370513-75370522 chr5:75370512-75370533

No.	Distal block	Cell Line	Cell type
1	chr5:75370002..75370997-chr5:75470399..75471572,8	MCF-7	breast:
2	chr5:75370258..75370917-chr5:75470691..75471438,2	MCF-7	breast:
3	chr5:75370186..75371274-chr5:75551816..75552790,4	MCF-7	breast:
4	chr5:75370241..75371009-chr5:75551554..75552357,4	K562	blood:
5	chr5:75370056..75370744-chr5:75551849..75552754,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SV2C-1	chr5:75371356-75371745	NONHSAT102226

Variant related genes	Relation type
ENSG00000249777	TF binding region
ENSG00000251342	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527737124	chr5:75360938-75360939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560168562	chr5:75360961-75360962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186704915	chr5:75360968-75360969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570800736	chr5:75360986-75360987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191318970	chr5:75361054-75361055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56371623	chr5:75361128-75361129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569988267	chr5:75361157-75361158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535670309	chr5:75361197-75361198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184415273	chr5:75361232-75361233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567819458	chr5:75361319-75361320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138798036	chr5:75361320-75361321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140727497	chr5:75361328-75361329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73128226	chr5:75361350-75361351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367603469	chr5:75361357-75361358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114006096	chr5:75361384-75361385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80092071	chr5:75364620-75364621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536856430	chr5:75364624-75364625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190748229	chr5:75364626-75364627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183112171	chr5:75364636-75364637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77807723	chr5:75364664-75364665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536386001	chr5:75364674-75364675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372814179	chr5:75364675-75364676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs30184	chr5:75364738-75364739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573215524	chr5:75364768-75364769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538630426	chr5:75364778-75364779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559221459	chr5:75364816-75364817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575969746	chr5:75364828-75364829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187759329	chr5:75364834-75364835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561513836	chr5:75364841-75364842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138331764	chr5:75364842-75364843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71628998	chr5:75364871-75364872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192552307	chr5:75364903-75364904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542742146	chr5:75364963-75364964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559163525	chr5:75365014-75365015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528104415	chr5:75365018-75365019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149205372	chr5:75365084-75365085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182610039	chr5:75365090-75365091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116206115	chr5:75365166-75365167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530760369	chr5:75365168-75365169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373753423	chr5:75365208-75365209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567154865	chr5:75365209-75365210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536035876	chr5:75365225-75365226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547090864	chr5:75365245-75365246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566820846	chr5:75365263-75365264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539034412	chr5:75365269-75365270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558635749	chr5:75365324-75365325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6874577	chr5:75365397-75365398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575708449	chr5:75365420-75365421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187763978	chr5:75365462-75365463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192889514	chr5:75365465-75365466	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75359400-75361000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:75361000-75361400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:75364600-75365600	Enhancers	Fetal Brain Male	brain
4	chr5:75365000-75366000	Enhancers	Fetal Brain Female	brain
5	chr5:75365600-75365800	Bivalent Enhancer	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links