Variant report

Variant	nsv964089
Chromosome Location	chr4:119563981-119592460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:385)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:119580936-119581135	GM12878	blood:	n/a	n/a
2	BATF	chr4:119585811-119586025	GM12878	blood:	n/a	chr4:119585908-119585919
3	BATF	chr4:119585861-119586068	GM12878	blood:	n/a	chr4:119585908-119585919
4	BCL11A	chr4:119590415-119590682	GM12878	blood:	n/a	chr4:119590530-119590538 chr4:119590523-119590532
5	BCL11A	chr4:119583224-119583485	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:119582224-119582465	HepG2	liver:	n/a	n/a
7	BHLHE40	chr4:119585819-119586088	HepG2	liver:	n/a	n/a
8	BHLHE40	chr4:119576461-119576486	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:119575027-119575397	K562	blood:	n/a	n/a
10	CEBPB	chr4:119590487-119590746	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr4:119566666-119567031	K562	blood:	n/a	n/a
12	CEBPB	chr4:119585799-119586132	K562	blood:	n/a	n/a
13	CEBPD	chr4:119570052-119570409	K562	blood:	n/a	n/a
14	CEBPD	chr4:119574979-119575474	K562	blood:	n/a	n/a
15	CHD2	chr4:119590504-119590678	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:119586000-119586150	HRE	kidney:	n/a	n/a
17	CTCF	chr4:119585920-119586070	AG04449	skin:	n/a	n/a
18	CTCF	chr4:119585960-119586110	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr4:119585918-119586015	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:119585980-119586130	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr4:119585960-119586110	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:119585960-119586110	GM12872	blood:	n/a	n/a
23	CTCF	chr4:119585937-119586031	GM10248	blood:	n/a	n/a
24	CTCF	chr4:119586000-119586150	AG10803	skin:	n/a	n/a
25	CTCF	chr4:119585772-119586148	A549	lung:	n/a	n/a
26	CTCF	chr4:119586000-119586150	NHEK	skin:	n/a	n/a
27	CTCF	chr4:119585921-119586029	GM19239	blood:	n/a	n/a
28	CTCF	chr4:119585920-119586070	GM12864	blood:	n/a	n/a
29	CTCF	chr4:119585960-119586110	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr4:119585980-119586130	AG09319	gingival:	n/a	n/a
31	CTCF	chr4:119586020-119586170	NHEK	skin:	n/a	n/a
32	CTCF	chr4:119585739-119586163	A549	lung:	n/a	n/a
33	CTCF	chr4:119585920-119586070	GM12878	blood:	n/a	n/a
34	CTCF	chr4:119585920-119586070	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr4:119585700-119585850	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr4:119585813-119586184	K562	blood:	n/a	n/a
37	CTCF	chr4:119585924-119586096	GM12878	blood:	n/a	n/a
38	CTCF	chr4:119585920-119586070	K562	blood:	n/a	n/a
39	CTCF	chr4:119585960-119586110	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr4:119585897-119586033	Fibrobl	skin:	n/a	n/a
41	CTCF	chr4:119585920-119586070	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr4:119586000-119586150	HMF	breast:	n/a	n/a
43	CTCF	chr4:119570085-119570134	Medullo	brain:	n/a	n/a
44	CTCF	chr4:119586000-119586150	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr4:119585940-119586090	GM12870	blood:	n/a	n/a
46	CTCF	chr4:119585815-119586146	GM12878	blood:	n/a	n/a
47	CTCF	chr4:119585877-119586171	A549	lung:	n/a	n/a
48	CTCF	chr4:119585872-119586099	Gliobla	brain:	n/a	n/a
49	CTCF	chr4:119585914-119586018	GM20000	blood:	n/a	n/a
50	CTCF	chr4:119585980-119586130	GM12801	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:119585680..119586219-chr4:119890216..119890848,2	MCF-7	breast:
2	chr4:119200131..119202202-chr4:119563480..119565428,2	K562	blood:
3	chr4:119585668..119586177-chr4:119603909..119604742,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24D-1	chr4:119585242-119586354	NONHSAT098012
2	lnc-SEC24D-1	chr4:119584229-119584309	XLOC_004053
3	lnc-SEC24D-1	chr4:119592162-119594748	XLOC_004053
4	lnc-SEC24D-1	chr4:119585252-119586354	ENSG00000245622

No data

Variant related genes	Relation type
CICP16	TF binding region
ENSG00000269893	chromatin interactions
IGF2BP2	miRNA target sites
TLK1	miRNA target sites

Extended variants
information (count: 99 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527285092	chr4:119564032-119564033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547376313	chr4:119564033-119564034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567579663	chr4:119564137-119564138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201811311	chr4:119564189-119564190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536579614	chr4:119564232-119564233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556170245	chr4:119564261-119564262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201434765	chr4:119564305-119564306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538452440	chr4:119564363-119564364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560905678	chr4:119564380-119564381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183213017	chr4:119564405-119564406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572411433	chr4:119564413-119564414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541044777	chr4:119564570-119564571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187924511	chr4:119564599-119564600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574468366	chr4:119564600-119564601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543739154	chr4:119564627-119564628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372565303	chr4:119564661-119564662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563816474	chr4:119564726-119564727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529654434	chr4:119564757-119564758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550050311	chr4:119564760-119564761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532784896	chr4:119564775-119564776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563395220	chr4:119564815-119564816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546033778	chr4:119564836-119564837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565268655	chr4:119564843-119564844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10013244	chr4:119564940-119564941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10002642	chr4:119564941-119564942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540062668	chr4:119564967-119564968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71241793	chr4:119565015-119565016	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192184906	chr4:119565027-119565028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529705053	chr4:119565065-119565066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565514277	chr4:119565080-119565081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184549572	chr4:119565143-119565144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543306832	chr4:119565177-119565178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558781882	chr4:119565191-119565192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375860698	chr4:119565192-119565193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569807167	chr4:119565353-119565354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115298416	chr4:119565383-119565384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564039977	chr4:119565409-119565410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549337158	chr4:119584286-119584287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs112966261	chr4:119585262-119585263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs551363287	chr4:119585285-119585286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs201134599	chr4:119585304-119585305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs376976288	chr4:119585305-119585306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs377360401	chr4:119585367-119585368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs190093581	chr4:119585368-119585369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs183072794	chr4:119585372-119585373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs188014415	chr4:119585382-119585383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs547655801	chr4:119585443-119585444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567388986	chr4:119585451-119585452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs368663427	chr4:119585558-119585559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs200104782	chr4:119585564-119585565	Inactive region	lncRNA	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119585600-119586400	Enhancers	Liver	Liver
2	chr4:119588200-119588400	Enhancers	Liver	Liver
3	chr4:119590600-119590800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:119590600-119591000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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