Variant report

Variant	nsv967771
Chromosome Location	chr4:87781398-87798513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:87791662-87791920	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:87796599-87796918	K562	blood:	n/a	chr4:87796752-87796763
3	CEBPB	chr4:87796633-87796895	H1-hESC	embryonic stem cell:	n/a	chr4:87796752-87796763
4	CEBPB	chr4:87796656-87796844	A549	lung:	n/a	chr4:87796752-87796763
5	CEBPB	chr4:87796607-87796915	IMR90	lung:	n/a	chr4:87796752-87796763
6	CEBPB	chr4:87796650-87796891	HepG2	liver:	n/a	chr4:87796752-87796763
7	CEBPB	chr4:87798361-87798456	HepG2	liver:	n/a	chr4:87798388-87798399
8	CTCF	chr4:87792170-87792230	Lung_OC	lung:	n/a	n/a
9	CTCF	chr4:87792698-87792765	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr4:87796938-87797009	GM10248	blood:	n/a	n/a
11	CTCF	chr4:87796909-87796987	GM13977	blood:	n/a	n/a
12	CTCF	chr4:87791760-87791910	SK-N-SH_RA	brain:	n/a	n/a
13	CUX1	chr4:87791887-87791949	GM12878	blood:	n/a	n/a
14	EBF1	chr4:87791570-87791997	GM12878	blood:	n/a	n/a
15	EBF1	chr4:87791614-87791946	GM12878	blood:	n/a	n/a
16	EBF1	chr4:87791552-87791958	GM12878	blood:	n/a	n/a
17	FOS	chr4:87793426-87793676	MCF10A-Er-Src	breast:	n/a	chr4:87793511-87793522 chr4:87793543-87793552
18	FOS	chr4:87793482-87793648	MCF10A-Er-Src	breast:	n/a	chr4:87793511-87793522 chr4:87793543-87793552
19	FOS	chr4:87793401-87793660	MCF10A-Er-Src	breast:	n/a	chr4:87793511-87793522 chr4:87793543-87793552
20	GABPA	chr4:87797470-87797586	HepG2	liver:	n/a	n/a
21	HEY1	chr4:87797456-87797715	K562	blood:	n/a	n/a
22	HEY1	chr4:87797472-87797602	HepG2	liver:	n/a	n/a
23	HEY1	chr4:87797379-87797630	HepG2	liver:	n/a	n/a
24	MAFF	chr4:87782079-87782287	HepG2	liver:	n/a	chr4:87782202-87782220
25	MAFF	chr4:87793557-87793582	K562	blood:	n/a	n/a
26	MAFK	chr4:87782131-87782352	HepG2	liver:	n/a	n/a
27	MAFK	chr4:87791739-87791749	HepG2	liver:	n/a	n/a
28	POLR2A	chr4:87797450-87797623	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr4:87797493-87797573	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:87797453-87797603	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:87797457-87797592	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:87797414-87797658	GM12892	blood:	n/a	n/a
33	POLR2A	chr4:87797468-87797600	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr4:87797445-87797597	A549	lung:	n/a	n/a
35	POLR2A	chr4:87797494-87797579	A549	lung:	n/a	n/a
36	POLR2A	chr4:87797489-87797586	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:87797431-87797579	A549	lung:	n/a	n/a
38	POLR2A	chr4:87797500-87797573	A549	lung:	n/a	n/a
39	TCF7L2	chr4:87781448-87781767	Hela-S3	cervix:	n/a	n/a
40	WRNIP1	chr4:87791909-87791947	GM12878	blood:	n/a	n/a
41	ZNF384	chr4:87796759-87796913	K562	blood:	n/a	n/a
42	ZNF384	chr4:87791659-87791897	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:87797556-87797606	A549	lung:	n/a
2	chr4:87797556-87797606	AG04449	skin:	fetal
3	chr4:87797502-87797552	HRPEpiC	eye:	n/a
4	chr4:87797556-87797606	T-47D	breast:	n/a
5	chr4:87797556-87797606	ECC-1	luminal epithelium:	n/a
6	chr4:87797502-87797552	IMR90	lung:	fetal
7	chr4:87797509-87797559	RPTEC	kidney:	n/a
8	chr4:87797509-87797559	Hepatocyte	liver:	n/a
9	chr4:87797502-87797552	BJ	skin:	n/a
10	chr4:87797676-87797726	NT2-D1	testis:	n/a
11	chr4:87797509-87797559	NHBE	bronchial:	n/a
12	chr4:87797676-87797726	Caco-2	colon:	n/a
13	chr4:87797509-87797559	HRCEpiC	kidney:	n/a
14	chr4:87797509-87797559	AG04450	lung:	fetal
15	chr4:87797676-87797726	HRPEpiC	eye:	n/a
16	chr4:87797676-87797726	HCT-116	colon:	n/a
17	chr4:87797556-87797606	HNPCEpiC	eye:	n/a
18	chr4:87797509-87797559	AoSMC	blood vessel:	n/a
19	chr4:87797502-87797552	HCT-116	colon:	n/a
20	chr4:87797676-87797726	A549	lung:	n/a
21	chr4:87797556-87797606	IMR90	lung:	fetal
22	chr4:87797556-87797606	NH-A	brain:	n/a
23	chr4:87797509-87797559	Hela-S3	cervix:	n/a
24	chr4:87797556-87797606	HUVEC	blood vessel:	n/a
25	chr4:87797556-87797606	PFSK-1	brain:	n/a
26	chr4:87797676-87797726	AG09319	gingival:	n/a
27	chr4:87797676-87797726	SK-N-MC	brain:	n/a
28	chr4:87797556-87797606	Caco-2	colon:	n/a
29	chr4:87797502-87797552	SK-N-SH_RA	brain:	n/a
30	chr4:87797509-87797559	ECC-1	luminal epithelium:	n/a
31	chr4:87797509-87797559	K562	blood:	n/a
32	chr4:87797556-87797606	AoSMC	blood vessel:	n/a
33	chr4:87797556-87797606	ProgFib	skin:	n/a
34	chr4:87797502-87797552	SK-N-MC	brain:	n/a
35	chr4:87797556-87797606	SAEC	small airway:	n/a
36	chr4:87797509-87797559	H1-hESC	embryonic stem cell:	embryo
37	chr4:87797676-87797726	HCM	heart:	n/a
38	chr4:87797556-87797606	HRPEpiC	eye:	n/a
39	chr4:87797676-87797726	GM19239	blood:	n/a
40	chr4:87797676-87797726	SK-N-SH	brain:	n/a
41	chr4:87797509-87797559	HRE	kidney:	n/a
42	chr4:87797509-87797559	GM12891	blood:	n/a
43	chr4:87797676-87797726	HNPCEpiC	eye:	n/a
44	chr4:87797502-87797552	GM19239	blood:	n/a
45	chr4:87797676-87797726	AoSMC	blood vessel:	n/a
46	chr4:87797556-87797606	HCF	heart:	n/a
47	chr4:87797556-87797606	RPTEC	kidney:	n/a
48	chr4:87797676-87797726	HAEpiC	amniotic membrane:	n/a
49	chr4:87797509-87797559	HEK293	kidney:	embryo
50	chr4:87797502-87797552	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87794364..87797348-chr4:87811792..87814126,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AFF1-3	chr4:87797491-87797805	NONHSAT097285
2	lnc-PTPN13-1	chr4:87791344-87792176	NONHSAT097284
3	lnc-PTPN13-1	chr4:87792530-87792557	NONHSAT097284

No data

Variant related genes	Relation type
ENSG00000243312	TF binding region
ENSG00000250202	TF binding region
ENSG00000243312	CpG island
ENSG00000250202	CpG island
ENSG00000163633	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12648754	chr4:87781405-87781406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs33971353	chr4:87781410-87781411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34394595	chr4:87781411-87781412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386400719	chr4:87781423-87781424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs70953613	chr4:87781424-87781425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564478272	chr4:87781433-87781434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72876004	chr4:87781438-87781439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs28585548	chr4:87781529-87781530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553391908	chr4:87781530-87781531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28702596	chr4:87781531-87781532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528834100	chr4:87781580-87781581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550206781	chr4:87781605-87781606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112138824	chr4:87781668-87781669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539118716	chr4:87781685-87781686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138568967	chr4:87781688-87781689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183220479	chr4:87781693-87781694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555683346	chr4:87781694-87781695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574032633	chr4:87781701-87781702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142917082	chr4:87781719-87781720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2705624	chr4:87781742-87781743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555713935	chr4:87781796-87781797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34025965	chr4:87781815-87781816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79677610	chr4:87781853-87781854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371020747	chr4:87781896-87781897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559137160	chr4:87781913-87781914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147004100	chr4:87781968-87781969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72876005	chr4:87781983-87781984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187546988	chr4:87782038-87782039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562039152	chr4:87782155-87782156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529581581	chr4:87782208-87782209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192039376	chr4:87782221-87782222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113549579	chr4:87782275-87782276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139071847	chr4:87782288-87782289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142989965	chr4:87782299-87782300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375581686	chr4:87782338-87782339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566594683	chr4:87782356-87782357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544315631	chr4:87782370-87782371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2705625	chr4:87782375-87782376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115958903	chr4:87782386-87782387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199666754	chr4:87782390-87782391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533951256	chr4:87782397-87782398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368796962	chr4:87782424-87782425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55889191	chr4:87782467-87782468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs77534085	chr4:87782475-87782476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538092089	chr4:87782488-87782489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556445782	chr4:87782492-87782493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13134746	chr4:87782506-87782507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs539857653	chr4:87782527-87782528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557951550	chr4:87782546-87782547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58866123	chr4:87782548-87782549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
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
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
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87771600-87785600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:87779200-87798400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:87779600-87786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:87780600-87782200	Enhancers	Fetal Intestine Large	intestine
5	chr4:87780800-87781400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:87780800-87781600	Enhancers	Stomach Mucosa	stomach
7	chr4:87781200-87781400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr4:87781400-87782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:87782000-87782200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:87784600-87785000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr4:87785000-87799400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:87791400-87792400	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:87791600-87791800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:87791800-87792000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:87791800-87792200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:87792000-87792400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:87793000-87793400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:87793000-87793600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:87793200-87793800	Enhancers	HMEC	breast
20	chr4:87793200-87793800	Enhancers	NHEK	skin
21	chr4:87793200-87794200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:87793600-87799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:87794200-87799600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:87798400-87798800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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