Variant report

Variant	nsv877149
Chromosome Location	chr3:88372336-88541582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:344)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:344 , 50 per page) page: 1 2 3 4 5 6 7

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	BACH1	chr3:88438892-88438979	K562	blood:	n/a	n/a
3	BACH1	chr3:88434387-88434629	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr3:88378808-88379094	IMR90	lung:	n/a	chr3:88378941-88378952
5	CEBPB	chr3:88528621-88528887	IMR90	lung:	n/a	n/a
6	CEBPB	chr3:88396713-88396914	Hela-S3	cervix:	n/a	chr3:88396754-88396765
7	CEBPB	chr3:88515855-88516126	HepG2	liver:	n/a	chr3:88515996-88516007 chr3:88515997-88516006
8	CEBPB	chr3:88528668-88528894	A549	lung:	n/a	n/a
9	CEBPB	chr3:88528652-88528747	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:88396706-88396908	A549	lung:	n/a	chr3:88396754-88396765
11	CEBPB	chr3:88396623-88396919	HepG2	liver:	n/a	chr3:88396754-88396765
12	CEBPB	chr3:88427165-88427365	H1-hESC	embryonic stem cell:	n/a	chr3:88427292-88427305
13	CEBPB	chr3:88378823-88378968	HepG2	liver:	n/a	chr3:88378941-88378952
14	CEBPB	chr3:88434165-88434583	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr3:88372984-88373041	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:88514020-88514170	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr3:88514080-88514230	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:88468481-88468493	GM13976	blood:	n/a	n/a
19	CTCF	chr3:88514100-88514250	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr3:88428300-88428450	MCF-7	breast:	n/a	chr3:88428421-88428434 chr3:88428419-88428437 chr3:88428414-88428435
21	CTCF	chr3:88514120-88514270	HRE	kidney:	n/a	n/a
22	CTCF	chr3:88514492-88514520	MCF-7	breast:	n/a	chr3:88514499-88514515
23	CTCF	chr3:88463612-88463648	GM20000	blood:	n/a	n/a
24	CTCF	chr3:88516500-88516650	HEK293	kidney:	n/a	n/a
25	CTCF	chr3:88516460-88516610	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr3:88516480-88516630	HepG2	liver:	n/a	n/a
27	CTCF	chr3:88516500-88516650	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr3:88428380-88428530	GM12865	blood:	n/a	chr3:88428421-88428434 chr3:88428419-88428437 chr3:88428414-88428435
29	CTCF	chr3:88391615-88391656	HepG2	liver:	n/a	n/a
30	CTCF	chr3:88514080-88514230	HMEC	breast:	n/a	n/a
31	CTCF	chr3:88514000-88514150	Caco-2	colon:	n/a	n/a
32	CTCF	chr3:88383460-88383610	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr3:88516512-88516566	MCF-7	breast:	n/a	n/a
34	CTCF	chr3:88516420-88516570	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr3:88516420-88516570	Caco-2	colon:	n/a	n/a
36	CTCF	chr3:88516440-88516590	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr3:88514000-88514150	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr3:88514067-88514164	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr3:88514078-88514170	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:88514000-88514150	HCFaa	heart:	n/a	n/a
41	CTCF	chr3:88514020-88514170	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr3:88514060-88514210	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:88514000-88514150	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr3:88514020-88514170	HMEC	breast:	n/a	n/a
45	CTCF	chr3:88516460-88516610	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:88449307-88449344	GM20000	blood:	n/a	n/a
47	CTCF	chr3:88396440-88396590	RPTEC	kidney:	n/a	n/a
48	CTCF	chr3:88514040-88514190	HAc	cerebellar:	n/a	n/a
49	CTCF	chr3:88383440-88383590	HCM	heart:	n/a	n/a
50	CTCF	chr3:88428358-88428558	GM12878	blood:	n/a	chr3:88428421-88428434 chr3:88428419-88428437 chr3:88428414-88428435

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:88520234..88522396-chr3:88537772..88539509,2	K562	blood:
2	chr3:88443258..88445795-chr3:88448224..88450369,2	K562	blood:
3	chr20:7969749..7970528-chr3:88470088..88470821,2	MCF-7	breast:
4	chr3:88520234..88522396-chr3:88537772..88539509,2	K562	blood:
5	chr3:88377277..88378950-chr3:88387834..88390220,2	MCF-7	breast:
6	chr3:88377277..88378950-chr3:88387834..88390220,2	MCF-7	breast:
7	chr3:88443258..88445795-chr3:88448224..88450369,2	K562	blood:
8	chr3:88526173..88527680-chr3:88528498..88531008,2	MCF-7	breast:
9	chr3:88526173..88527680-chr3:88528498..88531008,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf38-2	chr3:88387591-88387793	XLOC_002727
2	lnc-C3orf38-2	chr3:88387573-88387793	XLOC_002727
3	lnc-C3orf38-2	chr3:88470263-88470483	l_2409_chr3:88470262-88514628_testes
4	lnc-C3orf38-2	chr3:88392301-88392435	NONHSAT090703
5	lnc-C3orf38-2	chr3:88514238-88517304	XLOC_002727
6	lnc-C3orf38-2	chr3:88514425-88514628	l_2409_chr3:88470262-88514628_testes
7	lnc-C3orf38-2	chr3:88431734-88431938	NONHSAT090703
8	lnc-C3orf38-2	chr3:88501234-88501324	l_2409_chr3:88470262-88514628_testes
9	lnc-C3orf38-2	chr3:88387572-88387793	NONHSAT090703
10	lnc-C3orf38-2	chr3:88514238-88517156	XLOC_002727
11	lnc-C3orf38-2	chr3:88418571-88418634	XLOC_002727
12	lnc-C3orf38-2	chr3:88431735-88431938	XLOC_002727
13	lnc-C3orf38-2	chr3:88387573-88387793	XLOC_002727
14	lnc-C3orf38-2	chr3:88431735-88431938	XLOC_002727
15	lnc-C3orf38-2	chr3:88392302-88392435	XLOC_002727
16	lnc-C3orf38-2	chr3:88474992-88475125	l_2409_chr3:88470262-88514628_testes

No data

Variant related genes	Relation type
ENSG00000207316	TF binding region
HCCS	miRNA target sites
VLDLR	miRNA target sites
ECE1	miRNA target sites
BLCAP	miRNA target sites
E2F8	miRNA target sites

Extended variants
information (count: 1964 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1964 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114089113	chr3:88373805-88373806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565967446	chr3:88373819-88373820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559252343	chr3:88373838-88373839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533097000	chr3:88373900-88373901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57286033	chr3:88373908-88373909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551690329	chr3:88373909-88373910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397937892	chr3:88373918-88373919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569831685	chr3:88373956-88373957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114593167	chr3:88373989-88373990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145771697	chr3:88373996-88373997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191314818	chr3:88373997-88373998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374599187	chr3:88374000-88374001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568225186	chr3:88374010-88374011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535510541	chr3:88374066-88374067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80309440	chr3:88374069-88374070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570302479	chr3:88374073-88374074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554866675	chr3:88374129-88374130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539433522	chr3:88374134-88374135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111348160	chr3:88374194-88374195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573544811	chr3:88374209-88374210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565951362	chr3:88374210-88374211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114556795	chr3:88374278-88374279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555953248	chr3:88374302-88374303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183776571	chr3:88374319-88374320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556175216	chr3:88374320-88374321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78312338	chr3:88374324-88374325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559099997	chr3:88374329-88374330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189299707	chr3:88374348-88374349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74378727	chr3:88374390-88374391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563643390	chr3:88374396-88374397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77383492	chr3:88374397-88374398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192641412	chr3:88374415-88374416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76829188	chr3:88374434-88374435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529363815	chr3:88374435-88374436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560372409	chr3:88374471-88374472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568575235	chr3:88374480-88374481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375073128	chr3:88374488-88374489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547902954	chr3:88374512-88374513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531696488	chr3:88374525-88374526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4544623	chr3:88374527-88374528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566018277	chr3:88374528-88374529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539867980	chr3:88374529-88374530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537495303	chr3:88374530-88374531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551476090	chr3:88374552-88374553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527509723	chr3:88374565-88374566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570370496	chr3:88374570-88374571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537692089	chr3:88374583-88374584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556016462	chr3:88374634-88374635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564016890	chr3:88374641-88374642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79728015	chr3:88374643-88374644	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88373800-88374800	Enhancers	HepG2	liver
2	chr3:88374000-88374400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:88374200-88374400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:88383600-88384000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:88399800-88400200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:88405600-88406000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:88406200-88406600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:88411200-88411800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:88411400-88412200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr3:88411600-88411800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:88418000-88419200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:88428200-88428600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:88433600-88434400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:88434000-88434400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:88434000-88434400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:88434000-88434400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:88434000-88434600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:88447600-88448000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:88448600-88449000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:88448600-88449600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:88449000-88449400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:88452400-88452800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:88452800-88457800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:88453800-88455000	Enhancers	Primary T cells from cord blood	blood
25	chr3:88454600-88454800	Enhancers	Fetal Heart	heart
26	chr3:88454800-88455400	Weak transcription	Fetal Heart	heart
27	chr3:88455000-88457200	Weak transcription	Primary T cells from cord blood	blood
28	chr3:88455400-88456200	Enhancers	Fetal Heart	heart
29	chr3:88456000-88456800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:88457200-88459200	Enhancers	Primary T cells from cord blood	blood
31	chr3:88457800-88458600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:88457800-88459400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:88458000-88458200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:88458200-88458400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:88459000-88460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:88459000-88460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:88459200-88459600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr3:88459200-88460200	Enhancers	Primary hematopoietic stem cells	blood
39	chr3:88459600-88460000	Active TSS	Primary T cells from cord blood	blood
40	chr3:88459800-88460200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:88460000-88460800	Enhancers	Primary T cells from cord blood	blood
42	chr3:88460800-88461200	Weak transcription	Primary T cells from cord blood	blood
43	chr3:88461200-88461600	Enhancers	Primary T cells from cord blood	blood
44	chr3:88461400-88461800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:88467400-88467800	Enhancers	Fetal Brain Male	brain
46	chr3:88476600-88482000	Weak transcription	Primary B cells from cord blood	blood
47	chr3:88482000-88482600	Enhancers	Primary B cells from cord blood	blood
48	chr3:88482600-88483000	Enhancers	GM12878-XiMat	blood
49	chr3:88482600-88483400	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr3:88482600-88483600	Enhancers	Dnd41	blood

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