Variant report

Variant	nsv967807
Chromosome Location	chr4:165833967-165843736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:165834769-165834969	K562	blood:	n/a	n/a
2	CEBPB	chr4:165834764-165834970	HepG2	liver:	n/a	n/a
3	CTCF	chr4:165834785-165834906	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr4:165834762-165834944	Medullo	brain:	n/a	n/a
5	CTCF	chr4:165834763-165834933	Gliobla	brain:	n/a	n/a
6	CTCF	chr4:165834720-165834870	GM12864	blood:	n/a	n/a
7	CTCF	chr4:165834709-165834940	K562	blood:	n/a	n/a
8	CTCF	chr4:165834780-165834930	GM06990	blood:	n/a	n/a
9	CTCF	chr4:165834780-165834930	GM12864	blood:	n/a	n/a
10	CTCF	chr4:165834711-165834919	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:165834779-165834909	HepG2	liver:	n/a	n/a
12	CTCF	chr4:165834760-165834910	Caco-2	colon:	n/a	n/a
13	CTCF	chr4:165834680-165834830	HCT-116	colon:	n/a	n/a
14	CTCF	chr4:165834680-165834830	GM12866	blood:	n/a	n/a
15	CTCF	chr4:165834752-165834968	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:165834680-165834830	GM12874	blood:	n/a	n/a
17	CTCF	chr4:165834880-165835030	GM06990	blood:	n/a	n/a
18	CTCF	chr4:165834769-165834906	ProgFib	skin:	n/a	n/a
19	CTCF	chr4:165834880-165835030	GM12868	blood:	n/a	n/a
20	CTCF	chr4:165834821-165834878	NHEK	skin:	n/a	n/a
21	CTCF	chr4:165834680-165834830	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:165834772-165834937	GM20000	blood:	n/a	n/a
23	CTCF	chr4:165834794-165834943	GM13977	blood:	n/a	n/a
24	CTCF	chr4:165834860-165835010	GM12866	blood:	n/a	n/a
25	CTCF	chr4:165834747-165834912	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr4:165834780-165834930	GM12872	blood:	n/a	n/a
27	CTCF	chr4:165834814-165834956	LNCaP	prostate:	n/a	n/a
28	CTCF	chr4:165834857-165834929	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr4:165834710-165834999	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr4:165834880-165835030	RPTEC	kidney:	n/a	n/a
31	CTCF	chr4:165834740-165834890	GM12873	blood:	n/a	n/a
32	CTCF	chr4:165834780-165834930	GM12878	blood:	n/a	n/a
33	CTCF	chr4:165834760-165834910	GM12875	blood:	n/a	n/a
34	CTCF	chr4:165834760-165834910	HAc	cerebellar:	n/a	n/a
35	CTCF	chr4:165834732-165834957	K562	blood:	n/a	n/a
36	CTCF	chr4:165837198-165837238	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr4:165834760-165834910	HEK293	kidney:	n/a	n/a
38	CTCF	chr4:165834700-165834850	GM12869	blood:	n/a	n/a
39	CTCF	chr4:165834920-165835070	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:165834640-165834790	GM12870	blood:	n/a	n/a
41	CTCF	chr4:165834778-165834913	GM19239	blood:	n/a	n/a
42	CTCF	chr4:165834680-165834830	RPTEC	kidney:	n/a	n/a
43	CTCF	chr4:165834780-165834930	GM12865	blood:	n/a	n/a
44	CTCF	chr4:165834748-165834970	GM12878	blood:	n/a	n/a
45	CTCF	chr4:165834760-165834910	GM12878	blood:	n/a	n/a
46	CTCF	chr4:165834780-165834930	GM12874	blood:	n/a	n/a
47	CTCF	chr4:165834773-165834930	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:165834720-165834870	GM12872	blood:	n/a	n/a
49	CTCF	chr4:165834760-165834910	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr4:165834920-165835070	GM12864	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165833603..165835632-chr4:165838442..165840941,2	MCF-7	breast:
2	chr4:165833603..165835632-chr4:165838442..165840941,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM61-5	chr4:165841770-165842215	NONHSAT099088
2	lnc-C4orf39-6	chr4:165836717-165838135	NONHSAT099087

No data

Variant related genes	Relation type
TRIM60P14	TF binding region
ENSG00000244146	TF binding region

Extended variants
information (count: 145 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532566747	chr4:165833979-165833980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533554780	chr4:165834024-165834025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532393132	chr4:165834026-165834027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555301511	chr4:165834036-165834037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112604713	chr4:165834037-165834038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201693924	chr4:165834038-165834039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573822809	chr4:165834072-165834073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139980453	chr4:165834091-165834092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531882432	chr4:165834110-165834111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116723268	chr4:165834121-165834122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549438265	chr4:165834161-165834162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577900376	chr4:165834193-165834194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545154284	chr4:165834201-165834202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550190746	chr4:165834230-165834231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546659670	chr4:165834247-165834248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572259149	chr4:165834283-165834284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542695574	chr4:165834295-165834296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558792720	chr4:165834304-165834305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531718569	chr4:165834314-165834315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549847625	chr4:165834318-165834319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565001872	chr4:165834335-165834336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532587491	chr4:165834355-165834356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547921239	chr4:165834357-165834358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199858124	chr4:165834397-165834398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566250884	chr4:165834399-165834400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530413396	chr4:165834408-165834409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72697911	chr4:165834417-165834418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370215865	chr4:165834430-165834431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112092309	chr4:165834431-165834432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112372749	chr4:165834448-165834449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187279242	chr4:165834492-165834493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571337781	chr4:165834520-165834521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192679364	chr4:165834576-165834577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35307673	chr4:165834586-165834587	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72697914	chr4:165834614-165834615	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183110044	chr4:165834661-165834662	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs373631784	chr4:165834680-165834681	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369403433	chr4:165834681-165834682	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558050503	chr4:165834683-165834684	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs144326357	chr4:165834703-165834704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200823128	chr4:165834711-165834712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs71618425	chr4:165834715-165834716	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542885207	chr4:165834743-165834744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113446840	chr4:165834746-165834747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs187607221	chr4:165834790-165834791	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs535278282	chr4:165834834-165834835	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs145723638	chr4:165834859-165834860	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs111476887	chr4:165834865-165834866	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569220665	chr4:165834885-165834886	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs141681166	chr4:165834894-165834895	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165827800-165834800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:165834800-165835600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:165835000-165835400	Enhancers	HUES48 Cell Line	embryonic stem cell

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