Variant report

Variant	nsv980527
Chromosome Location	chr4:74289660-74297406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:74296102-74296333	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:74296493-74296863	K562	blood:	n/a	n/a
3	ARID3A	chr4:74297275-74299086	HepG2	liver:	n/a	n/a
4	ATF1	chr4:74296542-74296873	K562	blood:	n/a	n/a
5	CCNT2	chr4:74296662-74296949	K562	blood:	n/a	chr4:74296768-74296777
6	CEBPB	chr4:74295977-74296251	HepG2	liver:	n/a	n/a
7	CEBPB	chr4:74295985-74296208	HepG2	liver:	n/a	n/a
8	CEBPB	chr4:74295965-74296198	HepG2	liver:	n/a	n/a
9	CEBPD	chr4:74295973-74296236	HepG2	liver:	n/a	n/a
10	CUX1	chr4:74296522-74296672	K562	blood:	n/a	n/a
11	EP300	chr4:74296591-74296915	K562	blood:	n/a	chr4:74296691-74296700 chr4:74296690-74296704 chr4:74296648-74296662
12	EP300	chr4:74295786-74296456	HepG2	liver:	n/a	n/a
13	EP300	chr4:74295787-74296497	HepG2	liver:	n/a	n/a
14	FOXA1	chr4:74295799-74296284	HepG2	liver:	n/a	n/a
15	FOXA1	chr4:74292340-74292768	HepG2	liver:	n/a	n/a
16	FOXA1	chr4:74295764-74296354	HepG2	liver:	n/a	n/a
17	FOXA1	chr4:74295795-74296310	HepG2	liver:	n/a	n/a
18	FOXA1	chr4:74295818-74296242	HepG2	liver:	n/a	n/a
19	FOXA2	chr4:74297237-74299126	HepG2	liver:	n/a	chr4:74298054-74298066
20	FOXA2	chr4:74292382-74292703	HepG2	liver:	n/a	n/a
21	FOXA2	chr4:74295876-74296314	HepG2	liver:	n/a	n/a
22	HDAC2	chr4:74295844-74296311	HepG2	liver:	n/a	chr4:74296255-74296264 chr4:74296187-74296201 chr4:74296173-74296187 chr4:74296189-74296203
23	HEY1	chr4:74297338-74297701	HepG2	liver:	n/a	n/a
24	HEY1	chr4:74295786-74296033	HepG2	liver:	n/a	n/a
25	HNF4A	chr4:74295941-74296260	HepG2	liver:	n/a	chr4:74296021-74296033 chr4:74296079-74296101
26	HNF4A	chr4:74292449-74292723	HepG2	liver:	n/a	chr4:74292596-74292604 chr4:74292595-74292603
27	HNF4A	chr4:74295992-74296241	HepG2	liver:	n/a	chr4:74296021-74296033 chr4:74296079-74296101
28	HNF4G	chr4:74295899-74296324	HepG2	liver:	n/a	chr4:74296021-74296033 chr4:74296079-74296101
29	IRF1	chr4:74296573-74296875	K562	blood:	n/a	n/a
30	JUND	chr4:74291786-74292073	HepG2	liver:	n/a	n/a
31	JUND	chr4:74295954-74296215	HepG2	liver:	n/a	n/a
32	MAFK	chr4:74292329-74292528	IMR90	lung:	n/a	n/a
33	MBD4	chr4:74295840-74296299	HepG2	liver:	n/a	n/a
34	MXI1	chr4:74292500-74292524	HepG2	liver:	n/a	n/a
35	MYBL2	chr4:74295810-74296324	HepG2	liver:	n/a	n/a
36	MYBL2	chr4:74295644-74296419	HepG2	liver:	n/a	n/a
37	NFIC	chr4:74295473-74296650	HepG2	liver:	n/a	n/a
38	NFIC	chr4:74295838-74296347	HepG2	liver:	n/a	n/a
39	NFIC	chr4:74297391-74299267	HepG2	liver:	n/a	n/a
40	NR2F2	chr4:74295630-74296451	HepG2	liver:	n/a	n/a
41	NR2F2	chr4:74295655-74296938	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:74287262-74290201	HepG2	liver:	n/a	n/a
43	POLR2A	chr4:74281302-74292684	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:74289622-74290228	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:74295808-74296008	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:74291833-74291871	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr4:74291001-74291122	HepG2	liver:	n/a	n/a
48	RCOR1	chr4:74296643-74296942	K562	blood:	n/a	n/a
49	RXRA	chr4:74295831-74296258	HepG2	liver:	n/a	n/a
50	SP1	chr4:74295801-74296375	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74296522-74296572	GM12892	blood:	n/a
2	chr4:74296726-74296776	Jurkat	blood:	n/a
3	chr4:74296522-74296572	HCPEpiC	choroid plexus:	n/a
4	chr4:74296726-74296776	T-47D	breast:	n/a
5	chr4:74296726-74296776	GM06990	blood:	n/a
6	chr4:74296726-74296776	HAEpiC	amniotic membrane:	n/a
7	chr4:74296726-74296776	Hela-S3	cervix:	n/a
8	chr4:74296726-74296776	SK-N-SH	brain:	n/a
9	chr4:74296522-74296572	H1-hESC	embryonic stem cell:	embryo
10	chr4:74296522-74296572	HL-60	blood:	n/a
11	chr4:74296522-74296572	AG04450	lung:	fetal
12	chr4:74296522-74296572	SAEC	small airway:	n/a
13	chr4:74296522-74296572	AG09319	gingival:	n/a
14	chr4:74296726-74296776	HRE	kidney:	n/a
15	chr4:74296522-74296572	RPTEC	kidney:	n/a
16	chr4:74296726-74296776	HRPEpiC	eye:	n/a
17	chr4:74296522-74296572	Hepatocyte	liver:	n/a
18	chr4:74296522-74296572	MCF-7	breast:	n/a
19	chr4:74296726-74296776	U87	brain:	n/a
20	chr4:74296522-74296572	HEEpiC	esophagus:	n/a
21	chr4:74296522-74296572	GM06990	blood:	n/a
22	chr4:74296522-74296572	HNPCEpiC	eye:	n/a
23	chr4:74296726-74296776	ECC-1	luminal epithelium:	n/a
24	chr4:74296522-74296572	HRE	kidney:	n/a
25	chr4:74296726-74296776	ProgFib	skin:	n/a
26	chr4:74296522-74296572	ProgFib	skin:	n/a
27	chr4:74296726-74296776	GM12878	blood:	n/a
28	chr4:74296522-74296572	Hela-S3	cervix:	n/a
29	chr4:74296726-74296776	IMR90	lung:	fetal
30	chr4:74296726-74296776	BE2_C	brain:	n/a
31	chr4:74296726-74296776	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:74296522-74296572	HMEC	breast:	n/a
33	chr4:74296522-74296572	ovcar-3	ovarian:	n/a
34	chr4:74296522-74296572	GM12878	blood:	n/a
35	chr4:74296726-74296776	HRCEpiC	kidney:	n/a
36	chr4:74296726-74296776	MCF-7	breast:	n/a
37	chr4:74296522-74296572	AG10803	skin:	n/a
38	chr4:74296726-74296776	CMK	blood:	n/a
39	chr4:74296522-74296572	BE2_C	brain:	n/a
40	chr4:74296522-74296572	NH-A	brain:	n/a
41	chr4:74296522-74296572	SKMC	muscle:	n/a
42	chr4:74296726-74296776	PANC-1	pancreas:	n/a
43	chr4:74296726-74296776	SK-N-SH_RA	brain:	n/a
44	chr4:74296522-74296572	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:74296522-74296572	AG09309	skin:	n/a
46	chr4:74296726-74296776	K562	blood:	n/a
47	chr4:74296522-74296572	HIPEpiC	eye:	n/a
48	chr4:74296522-74296572	HAEpiC	amniotic membrane:	n/a
49	chr4:74296726-74296776	HCPEpiC	choroid plexus:	n/a
50	chr4:74296726-74296776	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:74276363..74279027-chr4:74289491..74291603,2	K562	blood:
2	chr4:74297053..74298875-chr4:74302226..74304748,2	K562	blood:
3	chr4:74289653..74292919-chr4:74294255..74297611,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALB-2	chr4:74296876-74297000	NONHSAT096854

No data

Variant related genes	Relation type
AFP	TF binding region
AFP	CpG island
ENSG00000081051	chromatin interactions
ENSG00000163631	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75762622	chr4:74289664-74289665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs144254599	chr4:74289717-74289718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs191239591	chr4:74289769-74289770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371633832	chr4:74289773-74289774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148712762	chr4:74289828-74289829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565041512	chr4:74289843-74289844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532386010	chr4:74289956-74289957	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551818604	chr4:74289963-74289964	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148994152	chr4:74289984-74289985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548737685	chr4:74289990-74289991	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570030119	chr4:74290033-74290034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530910842	chr4:74290034-74290035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553347337	chr4:74290036-74290037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549547689	chr4:74290037-74290038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567741815	chr4:74290107-74290108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534918615	chr4:74290113-74290114	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567069544	chr4:74290143-74290144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569046294	chr4:74290150-74290151	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182694256	chr4:74290151-74290152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145645567	chr4:74290156-74290157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368485312	chr4:74290157-74290158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186000650	chr4:74290159-74290160	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554443156	chr4:74290226-74290227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538912722	chr4:74290267-74290268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs6446931	chr4:74290292-74290293	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs151266789	chr4:74290302-74290303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200420997	chr4:74290322-74290323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35392966	chr4:74290326-74290327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373447308	chr4:74290463-74290464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542212136	chr4:74290529-74290530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369816542	chr4:74290545-74290546	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533992870	chr4:74290564-74290565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572853687	chr4:74290587-74290588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373766958	chr4:74290625-74290626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79146711	chr4:74290628-74290629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565060602	chr4:74290655-74290656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200963436	chr4:74290663-74290664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376702121	chr4:74290679-74290680	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs192260285	chr4:74290754-74290755	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140515602	chr4:74290795-74290796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562748846	chr4:74290824-74290825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577013698	chr4:74290837-74290838	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530969365	chr4:74290865-74290866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs183453664	chr4:74290866-74290867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs116814564	chr4:74290897-74290898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs28585480	chr4:74290918-74290919	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117205431	chr4:74290998-74290999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571845707	chr4:74291010-74291011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187302289	chr4:74291053-74291054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370113556	chr4:74291069-74291070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74272000-74298200	Weak transcription	Pancreas	Pancrea
2	chr4:74287000-74291200	Weak transcription	HepG2	liver
3	chr4:74287400-74295400	Weak transcription	Liver	Liver
4	chr4:74291200-74297000	Enhancers	HepG2	liver
5	chr4:74292600-74292800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:74292600-74293200	Enhancers	Fetal Intestine Small	intestine
7	chr4:74292800-74296600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:74293200-74296600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:74294000-74295200	Enhancers	Fetal Lung	lung
10	chr4:74295200-74298200	Weak transcription	Fetal Lung	lung
11	chr4:74295400-74298000	Enhancers	Liver	Liver
12	chr4:74295800-74297000	Enhancers	K562	blood
13	chr4:74296600-74296800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:74296600-74299800	Enhancers	Fetal Intestine Small	intestine
15	chr4:74296800-74298200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:74296800-74299200	Enhancers	Fetal Intestine Large	intestine
17	chr4:74297000-74297800	Flanking Active TSS	HepG2	liver
18	chr4:74297000-74298000	Weak transcription	K562	blood

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