Variant report

Variant	nsv964078
Chromosome Location	chr4:106404397-106407289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:106406891-106406962	GM10248	blood:	n/a	n/a
2	EBF1	chr4:106406686-106406874	GM12878	blood:	n/a	n/a
3	EP300	chr4:106405026-106405281	K562	blood:	n/a	n/a
4	GATA2	chr4:106405780-106406644	K562	blood:	n/a	n/a
5	GATA2	chr4:106406655-106406926	K562	blood:	n/a	n/a
6	HEY1	chr4:106406422-106406641	HepG2	liver:	n/a	n/a
7	HEY1	chr4:106406686-106407034	K562	blood:	n/a	n/a
8	HEY1	chr4:106406002-106406663	HepG2	liver:	n/a	n/a
9	HEY1	chr4:106405809-106407225	K562	blood:	n/a	n/a
10	HEY1	chr4:106406732-106406987	HepG2	liver:	n/a	n/a
11	HEY1	chr4:106406665-106407076	HepG2	liver:	n/a	n/a
12	IRF4	chr4:106406478-106406801	GM12878	blood:	n/a	n/a
13	MAFK	chr4:106405180-106405308	K562	blood:	n/a	n/a
14	PAX5	chr4:106406702-106406931	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:106406210-106407136	GM12891	blood:	n/a	n/a
16	POLR2A	chr4:106406516-106406574	Gliobla	brain:	n/a	n/a
17	POLR2A	chr4:106406384-106406627	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:106406582-106406614	Gliobla	brain:	n/a	n/a
19	POLR2A	chr4:106405813-106406668	GM12891	blood:	n/a	n/a
20	POLR2A	chr4:106406759-106407043	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr4:106406440-106406581	A549	lung:	n/a	n/a
22	POLR2A	chr4:106405789-106407237	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:106405815-106407211	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:106406714-106406868	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:106405734-106407142	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:106405890-106407150	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:106406672-106407156	GM12891	blood:	n/a	n/a
28	POLR2A	chr4:106405849-106407144	GM12892	blood:	n/a	n/a
29	POLR2A	chr4:106405673-106407326	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:106405835-106406665	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:106405817-106407215	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:106406689-106406848	A549	lung:	n/a	n/a
33	POLR2A	chr4:106406620-106406661	Gliobla	brain:	n/a	n/a
34	POLR2A	chr4:106405894-106407040	GM12891	blood:	n/a	n/a
35	POLR2A	chr4:106406671-106407037	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:106406669-106406872	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:106406404-106406607	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:106406667-106407225	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:106404913-106405008	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:106406736-106406844	A549	lung:	n/a	n/a
41	POU2F2	chr4:106406342-106407032	GM12878	blood:	n/a	n/a
42	SPI1	chr4:106404967-106405396	HL-60	blood:	n/a	n/a
43	TCF12	chr4:106406756-106406933	GM12878	blood:	n/a	n/a
44	ZBTB33	chr4:106405729-106407308	K562	blood:	n/a	n/a
45	ZBTB33	chr4:106406671-106406948	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:106405850-106405900	MCF10A-Er-Src	breast:	n/a
2	chr4:106405819-106405869	HMEC	breast:	n/a
3	chr4:106405901-106405951	BJ	skin:	n/a
4	chr4:106405850-106405900	NHDF-neo	bronchial:	n/a
5	chr4:106405850-106405900	K562	blood:	n/a
6	chr4:106405901-106405951	SK-N-SH_RA	brain:	n/a
7	chr4:106405901-106405951	HEK293	kidney:	embryo
8	chr4:106405819-106405869	NHBE	bronchial:	n/a
9	chr4:106405819-106405869	HRCEpiC	kidney:	n/a
10	chr4:106405901-106405951	HCF	heart:	n/a
11	chr4:106405850-106405900	RPTEC	kidney:	n/a
12	chr4:106405819-106405869	SKMC	muscle:	n/a
13	chr4:106405819-106405869	AG09319	gingival:	n/a
14	chr4:106405850-106405900	HEEpiC	esophagus:	n/a
15	chr4:106405819-106405869	U87	brain:	n/a
16	chr4:106405901-106405951	GM12892	blood:	n/a
17	chr4:106405819-106405869	AG04450	lung:	fetal
18	chr4:106405850-106405900	HRE	kidney:	n/a
19	chr4:106405850-106405900	BJ	skin:	n/a
20	chr4:106405850-106405900	AG09319	gingival:	n/a
21	chr4:106405850-106405900	HEK293	kidney:	embryo
22	chr4:106405901-106405951	LNCaP	prostate:	n/a
23	chr4:106405901-106405951	SK-N-SH	brain:	n/a
24	chr4:106405901-106405951	AoSMC	blood vessel:	n/a
25	chr4:106405850-106405900	NHBE	bronchial:	n/a
26	chr4:106405901-106405951	SK-N-MC	brain:	n/a
27	chr4:106405850-106405900	H1-hESC	embryonic stem cell:	embryo
28	chr4:106405901-106405951	NT2-D1	testis:	n/a
29	chr4:106405819-106405869	HRE	kidney:	n/a
30	chr4:106405850-106405900	NB4	blood:	n/a
31	chr4:106405901-106405951	ProgFib	skin:	n/a
32	chr4:106405850-106405900	GM12892	blood:	n/a
33	chr4:106405819-106405869	NH-A	brain:	n/a
34	chr4:106405901-106405951	HNPCEpiC	eye:	n/a
35	chr4:106405901-106405951	A549	lung:	n/a
36	chr4:106405901-106405951	SKMC	muscle:	n/a
37	chr4:106405819-106405869	PrEC	prostate:	n/a
38	chr4:106405901-106405951	MCF10A-Er-Src	breast:	n/a
39	chr4:106405850-106405900	HPAEpiC	pulmonary alveolar:	n/a
40	chr4:106405850-106405900	ProgFib	skin:	n/a
41	chr4:106405901-106405951	ECC-1	luminal epithelium:	n/a
42	chr4:106405850-106405900	HL-60	blood:	n/a
43	chr4:106405901-106405951	GM12891	blood:	n/a
44	chr4:106405850-106405900	ovcar-3	ovarian:	n/a
45	chr4:106405850-106405900	GM12878	blood:	n/a
46	chr4:106405901-106405951	Jurkat	blood:	n/a
47	chr4:106405819-106405869	AoSMC	blood vessel:	n/a
48	chr4:106405819-106405869	HRPEpiC	eye:	n/a
49	chr4:106405819-106405869	BJ	skin:	n/a
50	chr4:106405819-106405869	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:106394786..106396440-chr4:106406925..106408517,2	MCF-7	breast:
2	chr4:106393672..106395391-chr4:106404396..106406000,2	MCF-7	breast:
3	chr4:106393178..106395974-chr4:106403458..106406397,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPA2-1	chr4:106406853-106407102	NONHSAT097678
2	lnc-PPA2-1	chr4:106406158-106407514	ENSG00000245205
3	lnc-PPA2-1	chr4:106405805-106406072	ENSG00000245205
4	lnc-PPA2-1	chr4:106405925-106406790	NONHSAT097678

No data

Variant related genes	Relation type
EEF1A1P9	TF binding region
EEF1A1P9	CpG island
ENSG00000138777	chromatin interactions
NUP188	miRNA target sites
RAB8B	miRNA target sites

Extended variants
information (count: 145 )
Associated
traits (count: 78 )

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	rs550608294	chr4:106404425-106404426	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370339928	chr4:106404428-106404429	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530087368	chr4:106404508-106404509	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546711150	chr4:106404512-106404513	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565702507	chr4:106404554-106404555	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1125254	chr4:106404623-106404624	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs547924484	chr4:106404638-106404639	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374716262	chr4:106404672-106404673	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557743937	chr4:106404762-106404763	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192835226	chr4:106404874-106404875	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369902141	chr4:106404891-106404892	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541631892	chr4:106404893-106404894	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556957383	chr4:106404901-106404902	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115240686	chr4:106404914-106404915	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201950426	chr4:106404925-106404926	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542718837	chr4:106404947-106404948	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530427804	chr4:106404948-106404949	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184969931	chr4:106404951-106404952	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75059400	chr4:106404987-106404988	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559867899	chr4:106405020-106405021	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565436990	chr4:106405023-106405024	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575574505	chr4:106405024-106405025	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74799399	chr4:106405057-106405058	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73836279	chr4:106405099-106405100	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530050637	chr4:106405108-106405109	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546573271	chr4:106405111-106405112	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189381836	chr4:106405118-106405119	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs180907430	chr4:106405129-106405130	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551590405	chr4:106405196-106405197	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376419405	chr4:106405213-106405214	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369407701	chr4:106405220-106405221	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571362087	chr4:106405221-106405222	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537297050	chr4:106405230-106405231	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185272202	chr4:106405245-106405246	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567239105	chr4:106405286-106405287	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536287043	chr4:106405298-106405299	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs189630233	chr4:106405375-106405376	ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142751564	chr4:106405408-106405409	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79658696	chr4:106405409-106405410	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559059698	chr4:106405446-106405447	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs151040010	chr4:106405460-106405461	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377252004	chr4:106405462-106405463	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575453556	chr4:106405472-106405473	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113842347	chr4:106405475-106405476	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576574207	chr4:106405535-106405536	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561280729	chr4:106405540-106405541	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35775499	chr4:106405546-106405547	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540666686	chr4:106405555-106405556	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560372591	chr4:106405568-106405569	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146830068	chr4:106405592-106405593	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106404400-106405600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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