Variant report

Variant	nsv980222
Chromosome Location	chr4:78924673-78931183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:78929622-78929894	GM12878	blood:	n/a	n/a
2	BATF	chr4:78929661-78929894	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:78929619-78929887	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:78929628-78929950	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:78929601-78929908	HepG2	liver:	n/a	n/a
6	CEBPD	chr4:78929584-78930105	K562	blood:	n/a	n/a
7	EBF1	chr4:78929667-78929887	GM12878	blood:	n/a	n/a
8	EBF1	chr4:78929605-78929898	GM12878	blood:	n/a	n/a
9	EP300	chr4:78929652-78929882	GM12878	blood:	n/a	n/a
10	EP300	chr4:78929587-78929908	GM12878	blood:	n/a	n/a
11	EP300	chr4:78929321-78929332	GM12878	blood:	n/a	n/a
12	FOS	chr4:78925542-78925625	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr4:78929617-78930093	HepG2	liver:	n/a	n/a
14	FOSL2	chr4:78929598-78929902	HepG2	liver:	n/a	chr4:78929608-78929617
15	FOXA1	chr4:78929578-78929945	HepG2	liver:	n/a	n/a
16	GABPA	chr4:78929660-78929867	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr4:78929656-78929896	Hela-S3	cervix:	n/a	n/a
18	GATA2	chr4:78929604-78930003	K562	blood:	n/a	n/a
19	HEY1	chr4:78929630-78929930	HepG2	liver:	n/a	n/a
20	HEY1	chr4:78929653-78929921	K562	blood:	n/a	n/a
21	HEY1	chr4:78929638-78929910	HepG2	liver:	n/a	n/a
22	IRF4	chr4:78929551-78929929	GM12878	blood:	n/a	n/a
23	IRF4	chr4:78929631-78930015	GM12878	blood:	n/a	n/a
24	JUN	chr4:78924940-78924994	K562	blood:	n/a	n/a
25	JUND	chr4:78925583-78925626	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr4:78929687-78929902	HepG2	liver:	n/a	n/a
27	JUND	chr4:78929621-78929986	HepG2	liver:	n/a	n/a
28	NR2F2	chr4:78927691-78928127	K562	blood:	n/a	n/a
29	NR2F2	chr4:78927730-78928138	K562	blood:	n/a	n/a
30	PAX5	chr4:78929612-78929926	GM12878	blood:	n/a	n/a
31	PAX5	chr4:78928659-78929046	GM12878	blood:	n/a	n/a
32	PAX5	chr4:78929619-78929879	GM12878	blood:	n/a	n/a
33	PAX5	chr4:78928776-78929012	GM12878	blood:	n/a	n/a
34	PAX5	chr4:78928774-78929011	GM12878	blood:	n/a	n/a
35	PAX5	chr4:78929651-78929903	GM12878	blood:	n/a	n/a
36	PAX5	chr4:78928696-78929051	GM12878	blood:	n/a	n/a
37	PAX5	chr4:78929617-78929993	GM12878	blood:	n/a	n/a
38	PBX3	chr4:78925374-78925883	SK-N-SH	brain:	n/a	n/a
39	PBX3	chr4:78929687-78929815	GM12878	blood:	n/a	n/a
40	PBX3	chr4:78929683-78929896	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:78929536-78929970	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr4:78929649-78929884	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:78929626-78929896	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:78929574-78929922	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:78925491-78925854	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr4:78925194-78925283	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:78929666-78929893	GM12878	blood:	n/a	n/a
48	POU2F2	chr4:78929644-78929933	GM12878	blood:	n/a	n/a
49	POU2F2	chr4:78929539-78929920	GM12878	blood:	n/a	n/a
50	RXRA	chr4:78929533-78929948	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:78928450-78928500	NH-A	brain:	n/a
2	chr4:78928450-78928500	GM12892	blood:	n/a
3	chr4:78928450-78928500	PFSK-1	brain:	n/a
4	chr4:78928450-78928500	U87	brain:	n/a
5	chr4:78928450-78928500	MCF-7	breast:	n/a
6	chr4:78928450-78928500	GM19239	blood:	n/a
7	chr4:78928450-78928500	PrEC	prostate:	n/a
8	chr4:78928450-78928500	AG09309	skin:	n/a
9	chr4:78928450-78928500	AG09319	gingival:	n/a
10	chr4:78928450-78928500	HPAEpiC	pulmonary alveolar:	n/a
11	chr4:78928450-78928500	HCT-116	colon:	n/a
12	chr4:78928450-78928500	GM06990	blood:	n/a
13	chr4:78928450-78928500	GM12891	blood:	n/a
14	chr4:78928450-78928500	SK-N-SH	brain:	n/a
15	chr4:78928450-78928500	HIPEpiC	eye:	n/a
16	chr4:78928450-78928500	HNPCEpiC	eye:	n/a
17	chr4:78928450-78928500	NB4	blood:	n/a
18	chr4:78928450-78928500	BE2_C	brain:	n/a
19	chr4:78928450-78928500	T-47D	breast:	n/a
20	chr4:78928450-78928500	AoSMC	blood vessel:	n/a
21	chr4:78928450-78928500	CMK	blood:	n/a
22	chr4:78928450-78928500	Jurkat	blood:	n/a
23	chr4:78928450-78928500	NHDF-neo	bronchial:	n/a
24	chr4:78928450-78928500	AG10803	skin:	n/a
25	chr4:78928450-78928500	SAEC	small airway:	n/a
26	chr4:78928450-78928500	LNCaP	prostate:	n/a
27	chr4:78928450-78928500	IMR90	lung:	fetal
28	chr4:78928450-78928500	HRCEpiC	kidney:	n/a
29	chr4:78928450-78928500	SK-N-MC	brain:	n/a
30	chr4:78928450-78928500	ovcar-3	ovarian:	n/a
31	chr4:78928450-78928500	Hepatocyte	liver:	n/a
32	chr4:78928450-78928500	SKMC	muscle:	n/a
33	chr4:78928450-78928500	AG04450	lung:	fetal
34	chr4:78928450-78928500	Hela-S3	cervix:	n/a
35	chr4:78928450-78928500	HCPEpiC	choroid plexus:	n/a
36	chr4:78928450-78928500	HCM	heart:	n/a
37	chr4:78928450-78928500	NT2-D1	testis:	n/a
38	chr4:78928450-78928500	NHBE	bronchial:	n/a
39	chr4:78928450-78928500	HL-60	blood:	n/a
40	chr4:78928450-78928500	HEK293	kidney:	embryo
41	chr4:78928450-78928500	RPTEC	kidney:	n/a
42	chr4:78928450-78928500	HUVEC	blood vessel:	n/a
43	chr4:78928450-78928500	K562	blood:	n/a
44	chr4:78928450-78928500	H1-hESC	embryonic stem cell:	embryo
45	chr4:78928450-78928500	GM12878	blood:	n/a
46	chr4:78928450-78928500	ECC-1	luminal epithelium:	n/a
47	chr4:78928450-78928500	HRPEpiC	eye:	n/a
48	chr4:78928450-78928500	BJ	skin:	n/a
49	chr4:78928450-78928500	AG04449	skin:	fetal
50	chr4:78928450-78928500	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78925853..78927440-chr4:78976402..78978682,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249072	TF binding region
ENSG00000249072	CpG island

Extended variants
information (count: 112 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571334075	chr4:78924686-78924687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537278957	chr4:78924688-78924689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145483237	chr4:78924827-78924828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548988057	chr4:78924853-78924854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112518058	chr4:78924863-78924864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116031909	chr4:78924865-78924866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536209851	chr4:78924879-78924880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552706615	chr4:78924903-78924904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76378712	chr4:78924912-78924913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538331138	chr4:78924918-78924919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558651622	chr4:78924943-78924944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189175031	chr4:78924959-78924960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12641050	chr4:78924968-78924969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs115568633	chr4:78924984-78924985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192243303	chr4:78925020-78925021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563184012	chr4:78925059-78925060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78797252	chr4:78925079-78925080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184771269	chr4:78925101-78925102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115034003	chr4:78925112-78925113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189503172	chr4:78925174-78925175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180671463	chr4:78925187-78925188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186264061	chr4:78925344-78925345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147238852	chr4:78925365-78925366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148729014	chr4:78925368-78925369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139477164	chr4:78925399-78925400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536569801	chr4:78925546-78925547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142278604	chr4:78925550-78925551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13113667	chr4:78925557-78925558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34751953	chr4:78925646-78925647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs13131974	chr4:78925667-78925668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs189524928	chr4:78925673-78925674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538008908	chr4:78925686-78925687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34850103	chr4:78925698-78925699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs574764623	chr4:78925711-78925712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116397333	chr4:78925717-78925718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572361372	chr4:78925736-78925737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114153625	chr4:78925747-78925748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13114091	chr4:78925756-78925757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs563733918	chr4:78925771-78925772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150998515	chr4:78925781-78925782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139640784	chr4:78925817-78925818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145036898	chr4:78925841-78925842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34279861	chr4:78925843-78925844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201107644	chr4:78925844-78925845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201909268	chr4:78925845-78925846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529946035	chr4:78925860-78925861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376004407	chr4:78925863-78925864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1604609	chr4:78926064-78926065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs181528647	chr4:78926078-78926079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186466945	chr4:78926104-78926105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
colon cancer	22000013	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78923200-78925000	Enhancers	HSMM	muscle
2	chr4:78924000-78925200	Weak transcription	NHEK	skin
3	chr4:78924600-78925600	Weak transcription	HSMMtube	muscle
4	chr4:78924600-78926400	Weak transcription	Placenta	Placenta
5	chr4:78924600-78927000	Weak transcription	HepG2	liver
6	chr4:78925000-78925800	Weak transcription	HSMM	muscle
7	chr4:78925200-78926200	Enhancers	NHEK	skin
8	chr4:78925600-78926000	Enhancers	HSMMtube	muscle
9	chr4:78925800-78926000	Enhancers	HSMM	muscle
10	chr4:78925800-78926800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:78926200-78926600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:78926400-78926800	Enhancers	Brain Germinal Matrix	brain
13	chr4:78926400-78926800	Enhancers	Placenta	Placenta
14	chr4:78927000-78927600	Enhancers	HepG2	liver

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