Variant report

Variant	nsv822619
Chromosome Location	chr4:76351246-76359789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:76357925-76358217	K562	blood:	n/a	n/a
2	CEBPB	chr4:76357985-76358149	K562	blood:	n/a	n/a
3	CTCF	chr4:76358020-76358170	A549	lung:	n/a	n/a
4	CTCF	chr4:76358020-76358170	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr4:76358020-76358170	SAEC	small airway:	n/a	n/a
6	CTCF	chr4:76358008-76358159	Medullo	brain:	n/a	n/a
7	CTCF	chr4:76358020-76358170	HMF	breast:	n/a	n/a
8	CTCF	chr4:76358040-76358190	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr4:76357920-76358070	HMEC	breast:	n/a	n/a
10	CTCF	chr4:76357980-76358130	HAc	cerebellar:	n/a	n/a
11	CTCF	chr4:76357920-76358070	NHLF	lung:	n/a	n/a
12	CTCF	chr4:76358040-76358190	RPTEC	kidney:	n/a	n/a
13	CTCF	chr4:76357943-76358164	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr4:76358100-76358250	HVMF	connective:	n/a	n/a
15	CTCF	chr4:76358018-76358177	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:76358000-76358150	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr4:76357980-76358130	HFF	foreskin:	n/a	n/a
18	CTCF	chr4:76358020-76358170	GM12869	blood:	n/a	n/a
19	CTCF	chr4:76358020-76358170	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr4:76358020-76358170	HCFaa	heart:	n/a	n/a
21	CTCF	chr4:76358040-76358190	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr4:76358040-76358190	GM12864	blood:	n/a	n/a
23	CTCF	chr4:76357964-76358227	GM12878	blood:	n/a	n/a
24	CTCF	chr4:76358060-76358210	GM12868	blood:	n/a	n/a
25	CTCF	chr4:76358020-76358170	GM12878	blood:	n/a	n/a
26	CTCF	chr4:76358000-76358150	NHEK	skin:	n/a	n/a
27	CTCF	chr4:76358020-76358170	GM12873	blood:	n/a	n/a
28	CTCF	chr4:76357920-76358298	HepG2	liver:	n/a	n/a
29	CTCF	chr4:76357983-76358192	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:76357958-76358220	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr4:76357862-76358207	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr4:76357997-76358186	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr4:76358060-76358210	AG04449	skin:	n/a	n/a
34	CTCF	chr4:76358020-76358170	AG04449	skin:	n/a	n/a
35	CTCF	chr4:76357970-76358146	A549	lung:	n/a	n/a
36	CTCF	chr4:76358020-76358170	Caco-2	colon:	n/a	n/a
37	CTCF	chr4:76357986-76358153	A549	lung:	n/a	n/a
38	CTCF	chr4:76358029-76358111	GM10266	blood:	n/a	n/a
39	CTCF	chr4:76357980-76358130	BJ	skin:	n/a	n/a
40	CTCF	chr4:76357980-76358130	HRE	kidney:	n/a	n/a
41	CTCF	chr4:76358040-76358190	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr4:76357954-76358220	HepG2	liver:	n/a	n/a
43	CTCF	chr4:76358020-76358170	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr4:76358020-76358170	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr4:76357907-76358277	GM12878	blood:	n/a	n/a
46	CTCF	chr4:76358060-76358210	GM12867	blood:	n/a	n/a
47	CTCF	chr4:76358020-76358170	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr4:76358040-76358190	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr4:76357757-76357815	K562	blood:	n/a	n/a
50	CTCF	chr4:76358021-76358157	GM19239	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:76349656..76352296-chr4:76353820..76356620,3	K562	blood:
2	chr4:76358069..76359586-chr4:76396767..76398904,2	K562	blood:
3	chr4:76357680..76358190-chr4:76498602..76499548,2	MCF-7	breast:
4	chr4:76349656..76352296-chr4:76353820..76356620,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCHY1-1	chr4:76359328-76359659	XLOC_003988

No data

Variant related genes	Relation type
ENSG00000248646	TF binding region
AP1G1	miRNA target sites

Extended variants
information (count: 87 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558302105	chr4:76354451-76354452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575118270	chr4:76354527-76354528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542018223	chr4:76354549-76354550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs786684	chr4:76354665-76354666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs189266482	chr4:76354677-76354678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1389442	chr4:76354689-76354690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564607734	chr4:76354703-76354704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550638996	chr4:76354759-76354760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1389443	chr4:76354770-76354771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs76449742	chr4:76354812-76354813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181579861	chr4:76354833-76354834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376684570	chr4:76354867-76354868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77242246	chr4:76354868-76354869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547242283	chr4:76354887-76354888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548730429	chr4:76354905-76354906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185840779	chr4:76354944-76354945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565561953	chr4:76354981-76354982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371019554	chr4:76354984-76354985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539277227	chr4:76354985-76354986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202216971	chr4:76354986-76354987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569452730	chr4:76354991-76354992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189491612	chr4:76354993-76354994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs786682	chr4:76357405-76357406	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs542580498	chr4:76357430-76357431	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554877669	chr4:76357443-76357444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375271487	chr4:76357458-76357459	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573061719	chr4:76357506-76357507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540474437	chr4:76357525-76357526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546862852	chr4:76357531-76357532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564969790	chr4:76357653-76357654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532248514	chr4:76357726-76357727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs118037293	chr4:76357784-76357785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114968219	chr4:76357833-76357834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs192280275	chr4:76357834-76357835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549388526	chr4:76357851-76357852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78015119	chr4:76357861-76357862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184609745	chr4:76357862-76357863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144942927	chr4:76357872-76357873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190099351	chr4:76357944-76357945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369820347	chr4:76357950-76357951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538774533	chr4:76357976-76357977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147953425	chr4:76358009-76358010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs139905256	chr4:76358018-76358019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs17278501	chr4:76358039-76358040	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554895058	chr4:76358086-76358087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142790793	chr4:76358101-76358102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533928424	chr4:76358126-76358127	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181299129	chr4:76358190-76358191	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs576978516	chr4:76358198-76358199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs552052537	chr4:76358200-76358201	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76354400-76355000	Enhancers	GM12878-XiMat	blood
2	chr4:76357400-76358200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:76358800-76359400	Active TSS	Pancreatic Islets	Pancreatic Islet

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