Variant report

Variant	nsv1015007
Chromosome Location	chr3:98934512-98949302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:98945624-98945864	HepG2	liver:	n/a	chr3:98945722-98945733
2	CTCF	chr3:98937475-98937542	HepG2	liver:	n/a	n/a
3	CTCF	chr3:98937448-98937572	NHEK	skin:	n/a	n/a
4	CTCF	chr3:98943170-98943206	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr3:98937480-98937630	A549	lung:	n/a	n/a
6	CTCF	chr3:98937500-98937650	HVMF	connective:	n/a	n/a
7	CTCF	chr3:98937409-98937688	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr3:98937440-98937590	HCT-116	colon:	n/a	n/a
9	CTCF	chr3:98937400-98937550	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr3:98937500-98937650	HMEC	breast:	n/a	n/a
11	CTCF	chr3:98937376-98937607	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr3:98937460-98937610	RPTEC	kidney:	n/a	n/a
13	CTCF	chr3:98937520-98937670	HCT-116	colon:	n/a	n/a
14	E2F4	chr3:98937115-98937150	MCF10A-Er-Src	breast:	n/a	n/a
15	FAM48A	chr3:98939502-98939597	GM12878	blood:	n/a	n/a
16	JUND	chr3:98934719-98934891	HepG2	liver:	n/a	n/a
17	MAFF	chr3:98945658-98945713	K562	blood:	n/a	n/a
18	MYC	chr3:98940915-98940924	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr3:98937312-98937696	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr3:98937266-98937737	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr3:98937329-98937669	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr3:98937321-98937733	H1-hESC	embryonic stem cell:	n/a	n/a
23	SETDB1	chr3:98937742-98938197	U2OS	brain:	n/a	n/a
24	STAT3	chr3:98939265-98939457	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCBLD2-2	chr3:98934068-98935110	NONHSAT090839

No data

Variant related genes	Relation type
ACTG1P13	TF binding region

Extended variants
information (count: 322 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6803675	chr3:98934512-98934513	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528260721	chr3:98934536-98934537	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs146743645	chr3:98934553-98934554	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs73859873	chr3:98934557-98934558	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532455072	chr3:98934592-98934593	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs368093269	chr3:98934598-98934599	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs567251114	chr3:98934601-98934602	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs6806218	chr3:98934604-98934605	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556086197	chr3:98934629-98934630	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572646074	chr3:98934639-98934640	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs114372862	chr3:98934663-98934664	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs541222023	chr3:98934667-98934668	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs531859308	chr3:98934672-98934673	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs138811993	chr3:98934700-98934701	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs578009896	chr3:98934793-98934794	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs115464935	chr3:98934827-98934828	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs192972658	chr3:98934838-98934839	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs116730422	chr3:98934869-98934870	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs16840770	chr3:98934878-98934879	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559216533	chr3:98934897-98934898	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs57832379	chr3:98934944-98934945	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs376678413	chr3:98934972-98934973	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs528292096	chr3:98934997-98934998	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs142897807	chr3:98935041-98935042	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs184303681	chr3:98935050-98935051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs114439436	chr3:98935056-98935057	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs149364975	chr3:98935091-98935092	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs373416927	chr3:98935092-98935093	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs550681136	chr3:98935099-98935100	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548439236	chr3:98935123-98935124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144691087	chr3:98935146-98935147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116522060	chr3:98935161-98935162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115531787	chr3:98935183-98935184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34785171	chr3:98935220-98935221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62277425	chr3:98935250-98935251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556276020	chr3:98935253-98935254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4928126	chr3:98935288-98935289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189515030	chr3:98935339-98935340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112809600	chr3:98935353-98935354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192500022	chr3:98935360-98935361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114964554	chr3:98935411-98935412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567902440	chr3:98935466-98935467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557023558	chr3:98935467-98935468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573742858	chr3:98935490-98935491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370570407	chr3:98935493-98935494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542565508	chr3:98935522-98935523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559607398	chr3:98935592-98935593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115458332	chr3:98935617-98935618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148077897	chr3:98935631-98935632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564968271	chr3:98935648-98935649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98925800-98939600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:98934400-98935000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr3:98945400-98945600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:98945400-98946600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:98945600-98945800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:98945600-98946200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:98945600-98946800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:98945600-98946800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:98945800-98946000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:98945800-98946400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:98945800-98946600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:98945800-98946800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:98946000-98946200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:98946000-98946600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:98946000-98946800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:98946200-98946800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:98946800-98947800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:98947800-98948000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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