Variant report

Variant	nsv877236
Chromosome Location	chr3:102871451-102956925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:283)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:102936808-102937519	GM12878	blood:	n/a	n/a
2	ATF2	chr3:102936818-102937806	GM12878	blood:	n/a	n/a
3	BATF	chr3:102936907-102937418	GM12878	blood:	n/a	n/a
4	BATF	chr3:102936937-102937408	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:102936940-102937450	GM12878	blood:	n/a	n/a
6	BCL11A	chr3:102936945-102937388	GM12878	blood:	n/a	n/a
7	BCL3	chr3:102936869-102937427	GM12878	blood:	n/a	n/a
8	BCL3	chr3:102936961-102937363	GM12878	blood:	n/a	n/a
9	BCLAF1	chr3:102936803-102937523	GM12878	blood:	n/a	n/a
10	BCLAF1	chr3:102936936-102937419	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:102889471-102889774	GM12878	blood:	n/a	n/a
12	BHLHE40	chr3:102936950-102937419	GM12878	blood:	n/a	n/a
13	BHLHE40	chr3:102892955-102893330	GM12878	blood:	n/a	n/a
14	CCNT2	chr3:102882271-102882471	K562	blood:	n/a	n/a
15	CEBPB	chr3:102912630-102912880	HepG2	liver:	n/a	chr3:102912736-102912747
16	CEBPB	chr3:102877445-102877893	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr3:102936875-102937548	GM12878	blood:	n/a	n/a
18	CEBPB	chr3:102912685-102912861	Hela-S3	cervix:	n/a	chr3:102912736-102912747
19	CEBPB	chr3:102937102-102937413	GM12878	blood:	n/a	n/a
20	CEBPB	chr3:102899975-102900407	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr3:102936950-102937417	GM12878	blood:	n/a	n/a
22	CHD2	chr3:102889644-102889761	GM12878	blood:	n/a	n/a
23	CHD2	chr3:102892896-102893057	GM12878	blood:	n/a	n/a
24	CTCF	chr3:102946747-102946783	LNCaP	prostate:	n/a	n/a
25	CTCF	chr3:102875864-102875896	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr3:102871674-102871709	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr3:102871556-102871583	Fibrobl	skin:	n/a	n/a
28	CTCF	chr3:102954489-102954521	GM10248	blood:	n/a	n/a
29	CTCF	chr3:102924340-102924490	Caco-2	colon:	n/a	n/a
30	CTCF	chr3:102952983-102953139	GM10248	blood:	n/a	n/a
31	CTCF	chr3:102953005-102953138	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr3:102903760-102903910	HRE	kidney:	n/a	n/a
33	CTCF	chr3:102916820-102916970	WI-38	lung:	n/a	n/a
34	CUX1	chr3:102936976-102937337	GM12878	blood:	n/a	n/a
35	E2F4	chr3:102937737-102937878	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr3:102904872-102905115	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr3:102903615-102903916	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr3:102889474-102889935	GM12878	blood:	n/a	chr3:102889688-102889699
39	EBF1	chr3:102936910-102937498	GM12878	blood:	n/a	n/a
40	EBF1	chr3:102886769-102887070	GM12878	blood:	n/a	n/a
41	EBF1	chr3:102935500-102935553	GM12878	blood:	n/a	n/a
42	EBF1	chr3:102889553-102889783	GM12878	blood:	n/a	chr3:102889688-102889699
43	EBF1	chr3:102937021-102937401	GM12878	blood:	n/a	n/a
44	EBF1	chr3:102892826-102893071	GM12878	blood:	n/a	n/a
45	EBF1	chr3:102937054-102937391	GM12878	blood:	n/a	n/a
46	EGR1	chr3:102937057-102937347	GM12878	blood:	n/a	n/a
47	ELF1	chr3:102936925-102937382	GM12878	blood:	n/a	n/a
48	EP300	chr3:102887909-102888513	SK-N-SH	brain:	n/a	n/a
49	EP300	chr3:102886770-102887025	GM12878	blood:	n/a	n/a
50	EP300	chr3:102900030-102900345	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:188479024..188479715-chr3:102939006..102939691,2	MCF-7	breast:
2	chr3:102879980..102881764-chr3:102891406..102893851,2	K562	blood:
3	chr3:102879980..102881764-chr3:102891406..102893851,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-6	chr3:102888748-102888923	l_2419_chr3:102888747-102894491_prostate
2	lnc-ZPLD1-6	chr3:102894427-102894491	l_2419_chr3:102888747-102894491_prostate

No data

Variant related genes	Relation type
RNU1-43P	TF binding region
NDUFA4P2	TF binding region

Extended variants
information (count: 820 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188478719	chr3:102873351-102873352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114621894	chr3:102873379-102873380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542119912	chr3:102873426-102873427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546225253	chr3:102873427-102873428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145731151	chr3:102873439-102873440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563448012	chr3:102873442-102873443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193142626	chr3:102873446-102873447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183172600	chr3:102873449-102873450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558172256	chr3:102873457-102873458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565378826	chr3:102873471-102873472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116653475	chr3:102873475-102873476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547569803	chr3:102873581-102873582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147061357	chr3:102873615-102873616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530252789	chr3:102873623-102873624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548822345	chr3:102873649-102873650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138346894	chr3:102873657-102873658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2168759	chr3:102873666-102873667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537045796	chr3:102873691-102873692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551925760	chr3:102873701-102873702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570509641	chr3:102873706-102873707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534733510	chr3:102873711-102873712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187007204	chr3:102873732-102873733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574648414	chr3:102873734-102873735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534377019	chr3:102873736-102873737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559316910	chr3:102873779-102873780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529914197	chr3:102873825-102873826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11717400	chr3:102873827-102873828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs191435246	chr3:102873858-102873859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544255084	chr3:102873907-102873908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183687916	chr3:102873952-102873953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558717102	chr3:102873966-102873967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576905282	chr3:102873980-102873981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541099662	chr3:102873990-102873991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112822686	chr3:102874032-102874033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559430769	chr3:102874043-102874044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530185502	chr3:102874049-102874050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542104060	chr3:102874055-102874056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563997784	chr3:102874067-102874068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189528617	chr3:102874075-102874076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2895242	chr3:102874093-102874094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563047322	chr3:102874138-102874139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552127185	chr3:102874165-102874166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192625899	chr3:102874189-102874190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530481862	chr3:102874193-102874194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546681047	chr3:102874202-102874203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185612017	chr3:102874227-102874228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190187141	chr3:102874228-102874229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556918962	chr3:102874271-102874272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376753778	chr3:102874292-102874293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181815575	chr3:102874296-102874297	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102873200-102874600	Enhancers	Fetal Brain Male	brain
2	chr3:102876400-102877800	Enhancers	Hela-S3	cervix
3	chr3:102877000-102877400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:102887800-102888400	Enhancers	Hela-S3	cervix
5	chr3:102887800-102888400	Enhancers	HMEC	breast
6	chr3:102888200-102888600	Enhancers	NHEK	skin
7	chr3:102888400-102892000	Weak transcription	HMEC	breast
8	chr3:102892000-102892400	Active TSS	HMEC	breast
9	chr3:102892200-102892400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:102892400-102893200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:102899800-102900600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:102899800-102900600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:102899800-102900600	Enhancers	Hela-S3	cervix
14	chr3:102899800-102900600	Enhancers	HMEC	breast
15	chr3:102899800-102900600	Enhancers	NHEK	skin
16	chr3:102900600-102903800	Weak transcription	HMEC	breast
17	chr3:102900600-102904000	Weak transcription	Hela-S3	cervix
18	chr3:102903800-102904200	ZNF genes & repeats	Left Ventricle	heart
19	chr3:102903800-102904200	Enhancers	HMEC	breast
20	chr3:102904000-102904400	Enhancers	Hela-S3	cervix
21	chr3:102918400-102919000	Enhancers	Rectal Smooth Muscle	rectum
22	chr3:102919000-102919400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:102919400-102919800	Enhancers	Brain Germinal Matrix	brain
24	chr3:102919400-102919800	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:102920000-102920400	Enhancers	Stomach Mucosa	stomach
26	chr3:102927800-102928400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:102929000-102929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:102936200-102937800	Enhancers	GM12878-XiMat	blood
29	chr3:102936600-102937800	Enhancers	Dnd41	blood
30	chr3:102937000-102937800	Enhancers	NH-A	brain
31	chr3:102938800-102939000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:102938800-102939000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:102939000-102939200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr3:102939000-102939400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr3:102939200-102939600	Active TSS	HUES6 Cell Line	embryonic stem cell

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