Variant report

Variant	nsv877155
Chromosome Location	chr3:88462605-88541582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:88501523-88501717	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr3:88528621-88528887	IMR90	lung:	n/a	n/a
3	CEBPB	chr3:88515855-88516126	HepG2	liver:	n/a	chr3:88515996-88516007 chr3:88515997-88516006
4	CEBPB	chr3:88528652-88528747	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr3:88528668-88528894	A549	lung:	n/a	n/a
6	CTCF	chr3:88516500-88516650	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr3:88514040-88514190	HAc	cerebellar:	n/a	n/a
8	CTCF	chr3:88514000-88514150	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr3:88516480-88516630	HepG2	liver:	n/a	n/a
10	CTCF	chr3:88516420-88516570	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr3:88516512-88516566	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:88514075-88514176	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:88514080-88514230	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:88514020-88514170	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr3:88516440-88516590	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr3:88514000-88514150	HCFaa	heart:	n/a	n/a
17	CTCF	chr3:88514100-88514250	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr3:88514000-88514150	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr3:88516460-88516610	HepG2	liver:	n/a	n/a
20	CTCF	chr3:88516420-88516570	Caco-2	colon:	n/a	n/a
21	CTCF	chr3:88516460-88516610	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:88514060-88514210	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:88514020-88514170	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr3:88514020-88514170	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr3:88514120-88514270	HRE	kidney:	n/a	n/a
26	CTCF	chr3:88514067-88514164	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr3:88516460-88516610	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr3:88514080-88514230	HMEC	breast:	n/a	n/a
29	CTCF	chr3:88514000-88514150	Caco-2	colon:	n/a	n/a
30	CTCF	chr3:88516500-88516650	HEK293	kidney:	n/a	n/a
31	CTCF	chr3:88519100-88519250	HAc	cerebellar:	n/a	n/a
32	CTCF	chr3:88468481-88468493	GM13976	blood:	n/a	n/a
33	CTCF	chr3:88514060-88514210	RPTEC	kidney:	n/a	n/a
34	CTCF	chr3:88514492-88514520	MCF-7	breast:	n/a	chr3:88514499-88514515
35	CTCF	chr3:88516480-88516630	Caco-2	colon:	n/a	n/a
36	CTCF	chr3:88514020-88514170	HMEC	breast:	n/a	n/a
37	CTCF	chr3:88514078-88514170	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:88463612-88463648	GM20000	blood:	n/a	n/a
39	CUX1	chr3:88482645-88483002	GM12878	blood:	n/a	n/a
40	CUX1	chr3:88527309-88527310	GM12878	blood:	n/a	n/a
41	E2F4	chr3:88504607-88504858	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr3:88485218-88485410	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr3:88503756-88503775	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr3:88473166-88473219	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr3:88511461-88511629	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr3:88534128-88534135	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr3:88508016-88508244	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr3:88509770-88509804	MCF10A-Er-Src	breast:	n/a	n/a
49	EBF1	chr3:88482660-88483080	GM12878	blood:	n/a	chr3:88482873-88482882 chr3:88482872-88482882 chr3:88482872-88482883
50	EBF1	chr3:88482670-88483081	GM12878	blood:	n/a	chr3:88482873-88482882 chr3:88482872-88482882 chr3:88482872-88482883

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:88526173..88527680-chr3:88528498..88531008,2	MCF-7	breast:
2	chr3:88520234..88522396-chr3:88537772..88539509,2	K562	blood:
3	chr20:7969749..7970528-chr3:88470088..88470821,2	MCF-7	breast:
4	chr3:88520234..88522396-chr3:88537772..88539509,2	K562	blood:
5	chr3:88526173..88527680-chr3:88528498..88531008,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf38-2	chr3:88470263-88470483	l_2409_chr3:88470262-88514628_testes
2	lnc-C3orf38-2	chr3:88501234-88501324	l_2409_chr3:88470262-88514628_testes
3	lnc-C3orf38-2	chr3:88474992-88475125	l_2409_chr3:88470262-88514628_testes
4	lnc-C3orf38-2	chr3:88514425-88514628	l_2409_chr3:88470262-88514628_testes
5	lnc-C3orf38-2	chr3:88514238-88517304	XLOC_002727
6	lnc-C3orf38-2	chr3:88514238-88517156	XLOC_002727

No data

Variant related genes	Relation type
ENSG00000207316	TF binding region

Extended variants
information (count: 1281 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527244193	chr3:88467441-88467442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536297652	chr3:88467455-88467456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554761250	chr3:88467466-88467467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189873230	chr3:88467480-88467481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577481013	chr3:88467502-88467503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570759414	chr3:88467509-88467510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181606393	chr3:88467537-88467538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549985805	chr3:88467584-88467585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10663087	chr3:88467587-88467588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71751119	chr3:88467595-88467596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144423883	chr3:88467597-88467598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62269338	chr3:88467607-88467608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62269339	chr3:88467609-88467610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62269340	chr3:88467611-88467612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143999385	chr3:88467613-88467614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60430201	chr3:88467614-88467615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77311479	chr3:88467615-88467616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9865273	chr3:88467621-88467622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569404481	chr3:88467633-88467634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536369802	chr3:88467646-88467647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62269342	chr3:88467655-88467656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566761145	chr3:88467670-88467671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534149760	chr3:88467691-88467692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551599251	chr3:88467705-88467706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200675588	chr3:88467765-88467766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145630400	chr3:88467771-88467772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577108696	chr3:88467773-88467774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527364495	chr3:88467787-88467788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551711164	chr3:88470273-88470274	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs141182123	chr3:88470288-88470289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs564274986	chr3:88470351-88470352	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs558849013	chr3:88470425-88470426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs75986288	chr3:88470427-88470428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs368878351	chr3:88470456-88470457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562131652	chr3:88470473-88470474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs558783005	chr3:88475000-88475001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs570277355	chr3:88475026-88475027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs374520274	chr3:88475031-88475032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs115059494	chr3:88475066-88475067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113019510	chr3:88475075-88475076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs74474784	chr3:88475118-88475119	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs557810332	chr3:88476625-88476626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73134438	chr3:88476633-88476634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147883812	chr3:88476671-88476672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188762507	chr3:88476679-88476680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540858314	chr3:88476700-88476701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560247614	chr3:88476711-88476712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141618963	chr3:88476731-88476732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539764407	chr3:88476732-88476733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145462731	chr3:88476770-88476771	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88467400-88467800	Enhancers	Fetal Brain Male	brain
2	chr3:88476600-88482000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:88482000-88482600	Enhancers	Primary B cells from cord blood	blood
4	chr3:88482600-88483000	Enhancers	GM12878-XiMat	blood
5	chr3:88482600-88483400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr3:88482600-88483600	Enhancers	Dnd41	blood
7	chr3:88482800-88483200	Enhancers	Fetal Muscle Leg	muscle
8	chr3:88482800-88483800	Active TSS	NHDF-Ad	bronchial
9	chr3:88482800-88484800	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:88483000-88483600	Flanking Active TSS	GM12878-XiMat	blood
11	chr3:88483400-88483800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:88483400-88485600	Enhancers	Primary B cells from cord blood	blood
13	chr3:88483600-88484000	Flanking Active TSS	Dnd41	blood
14	chr3:88483600-88484000	Active TSS	GM12878-XiMat	blood
15	chr3:88483800-88484200	Flanking Active TSS	NHDF-Ad	bronchial
16	chr3:88484000-88484200	Enhancers	GM12878-XiMat	blood
17	chr3:88484200-88484400	Enhancers	NHDF-Ad	bronchial
18	chr3:88484800-88489400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:88485600-88488600	Weak transcription	Primary B cells from cord blood	blood
20	chr3:88488600-88489800	Enhancers	Primary B cells from cord blood	blood
21	chr3:88489400-88490600	Enhancers	Primary B cells from peripheral blood	blood
22	chr3:88489800-88490400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr3:88489800-88490800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:88490400-88491000	Enhancers	Primary B cells from cord blood	blood
25	chr3:88492400-88492800	Enhancers	Fetal Lung	lung
26	chr3:88492800-88493800	Weak transcription	Fetal Lung	lung
27	chr3:88493800-88494000	Enhancers	Fetal Lung	lung
28	chr3:88518800-88519200	ZNF genes & repeats	Fetal Brain Male	brain
29	chr3:88519200-88527600	Weak transcription	Fetal Brain Male	brain
30	chr3:88527400-88527800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:88527600-88527800	Enhancers	Fetal Brain Male	brain
32	chr3:88530400-88530800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:88530600-88531000	Enhancers	Fetal Heart	heart
34	chr3:88533400-88535200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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