Variant report

Variant	nsv965200
Chromosome Location	chr3:113567237-113570986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:113566855-113567338	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr3:113566999-113567271	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:113566962-113567383	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr3:113566783-113567371	HCT-116	colon:	n/a	n/a
5	CEBPB	chr3:113566842-113567355	MCF-7	breast:	n/a	n/a
6	CEBPB	chr3:113566853-113567372	HCT-116	colon:	n/a	n/a
7	CEBPB	chr3:113566941-113567255	A549	lung:	n/a	n/a
8	CEBPB	chr3:113566882-113567369	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr3:113566786-113567374	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:113567487-113567605	GM20000	blood:	n/a	n/a
11	CTCF	chr3:113569145-113569150	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:113569116-113569222	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:113569146-113569238	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:113569059-113569252	HepG2	liver:	n/a	n/a
15	CTCF	chr3:113569155-113569200	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:113569137-113569238	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:113569151-113569174	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:113569152-113569194	HepG2	liver:	n/a	n/a
19	E2F4	chr3:113566998-113567247	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr3:113566844-113567284	Hela-S3	cervix:	n/a	chr3:113567140-113567148
21	FOS	chr3:113566819-113567349	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr3:113566940-113567322	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr3:113566914-113567321	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr3:113566899-113567314	MCF10A-Er-Src	breast:	n/a	n/a
25	MAFK	chr3:113567798-113568097	HepG2	liver:	n/a	n/a
26	MAX	chr3:113566961-113567324	Hela-S3	cervix:	n/a	n/a
27	MYC	chr3:113566816-113567345	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr3:113566978-113567344	MCF10A-Er-Src	breast:	n/a	n/a
29	NR2F2	chr3:113568115-113568478	K562	blood:	n/a	n/a
30	NR2F2	chr3:113568155-113568517	K562	blood:	n/a	n/a
31	POLR2A	chr3:113569232-113569273	MCF-7	breast:	n/a	n/a
32	POLR2A	chr3:113569245-113569390	A549	lung:	n/a	n/a
33	RAD21	chr3:113569098-113569271	HepG2	liver:	n/a	n/a
34	STAT3	chr3:113566966-113567322	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr3:113567028-113567274	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr3:113566958-113567326	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr3:113566972-113567342	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr3:113566964-113567282	Hela-S3	cervix:	n/a	n/a
39	ZBTB33	chr3:113569276-113569589	K562	blood:	n/a	n/a
40	ZNF217	chr3:113566920-113567238	MCF-7	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAA50-4	chr3:113569084-113569578	NONHSAT091250

No data

Variant related genes	Relation type
ENSG00000240776	TF binding region

Extended variants
information (count: 157 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369781114	chr3:113567268-113567269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144421223	chr3:113567282-113567283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2632258	chr3:113567296-113567297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374411904	chr3:113567331-113567332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58147654	chr3:113567344-113567345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397781717	chr3:113567355-113567356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115680131	chr3:113567356-113567357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201558260	chr3:113567357-113567358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72952680	chr3:113567454-113567455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564076567	chr3:113567466-113567467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551705739	chr3:113567515-113567516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77691850	chr3:113567599-113567600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113909048	chr3:113567677-113567678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552651176	chr3:113567744-113567745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565064719	chr3:113567773-113567774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532814983	chr3:113567798-113567799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201251477	chr3:113567829-113567830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113376254	chr3:113567831-113567832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372242536	chr3:113567832-113567833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144449697	chr3:113567835-113567836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59058998	chr3:113567845-113567846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77494332	chr3:113567846-113567847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149673298	chr3:113567872-113567873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186176945	chr3:113567894-113567895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559896014	chr3:113567908-113567909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563467752	chr3:113567923-113567924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527508334	chr3:113567982-113567983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76311681	chr3:113568070-113568071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542891604	chr3:113568108-113568109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377290440	chr3:113568114-113568115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375250804	chr3:113568115-113568116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561305373	chr3:113568117-113568118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71319385	chr3:113568118-113568119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147162050	chr3:113568150-113568151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200411711	chr3:113568154-113568155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60910872	chr3:113568157-113568158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199567427	chr3:113568158-113568159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9757643	chr3:113568194-113568195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550916142	chr3:113568226-113568227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569414320	chr3:113568266-113568267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9755269	chr3:113568280-113568281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373592945	chr3:113568287-113568288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536580655	chr3:113568310-113568311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554835842	chr3:113568331-113568332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566972384	chr3:113568348-113568349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367765971	chr3:113568396-113568397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371765056	chr3:113568410-113568411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534324994	chr3:113568415-113568416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552515675	chr3:113568431-113568432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112564411	chr3:113568450-113568451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113558200-113570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:113558600-113574800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:113566200-113567600	Enhancers	Stomach Mucosa	stomach
4	chr3:113566400-113567600	Enhancers	Duodenum Mucosa	Duodenum
5	chr3:113566400-113567600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr3:113566400-113568000	Enhancers	Fetal Intestine Large	intestine
7	chr3:113566400-113568000	Enhancers	Fetal Intestine Small	intestine
8	chr3:113566600-113567600	Enhancers	HMEC	breast
9	chr3:113566600-113567600	Enhancers	NHEK	skin
10	chr3:113566600-113568000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:113566800-113567400	Weak transcription	Placenta	Placenta
12	chr3:113566800-113571200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:113567000-113567600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:113567000-113567600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:113567000-113568000	Enhancers	Liver	Liver
16	chr3:113567200-113570400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:113567400-113567600	Enhancers	Placenta	Placenta
18	chr3:113567600-113569200	Weak transcription	Placenta	Placenta
19	chr3:113568000-113569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:113568000-113571200	Weak transcription	Fetal Intestine Small	intestine
21	chr3:113568000-113571600	Weak transcription	Fetal Intestine Large	intestine
22	chr3:113569200-113569400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:113569200-113569400	Enhancers	Placenta	Placenta
24	chr3:113569200-113574400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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