Variant report

Variant	nsv963275
Chromosome Location	chr3:119355854-119358012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:119357780-119358258	K562	blood:	n/a	n/a
2	ATF1	chr3:119356802-119357163	K562	blood:	n/a	n/a
3	ATF1	chr3:119357683-119358146	K562	blood:	n/a	n/a
4	ATF2	chr3:119356350-119357387	GM12878	blood:	n/a	n/a
5	ATF2	chr3:119356719-119358867	GM12878	blood:	n/a	n/a
6	ATF2	chr3:119357395-119358814	GM12878	blood:	n/a	n/a
7	ATF3	chr3:119357763-119357998	K562	blood:	n/a	chr3:119357913-119357926 chr3:119357864-119357873
8	ATF3	chr3:119357698-119358131	GM12878	blood:	n/a	chr3:119357913-119357926 chr3:119357864-119357873
9	ATF3	chr3:119357661-119358083	K562	blood:	n/a	chr3:119357913-119357926 chr3:119357864-119357873
10	BATF	chr3:119357579-119358133	GM12878	blood:	n/a	n/a
11	BATF	chr3:119356745-119357371	GM12878	blood:	n/a	n/a
12	BATF	chr3:119357762-119358135	GM12878	blood:	n/a	n/a
13	BATF	chr3:119356671-119357365	GM12878	blood:	n/a	n/a
14	BCL11A	chr3:119356697-119357350	GM12878	blood:	n/a	n/a
15	BCL11A	chr3:119357433-119358201	GM12878	blood:	n/a	chr3:119358021-119358030
16	BCL11A	chr3:119357774-119358146	GM12878	blood:	n/a	chr3:119358021-119358030
17	BCL3	chr3:119357423-119358829	GM12878	blood:	n/a	chr3:119358550-119358559 chr3:119358021-119358030 chr3:119358549-119358558
18	BCLAF1	chr3:119356747-119358229	GM12878	blood:	n/a	chr3:119358021-119358030
19	BCLAF1	chr3:119356768-119358811	GM12878	blood:	n/a	chr3:119358550-119358559 chr3:119358021-119358030 chr3:119358549-119358558
20	BHLHE40	chr3:119357749-119357994	HepG2	liver:	n/a	n/a
21	BHLHE40	chr3:119357579-119358149	K562	blood:	n/a	n/a
22	BHLHE40	chr3:119356827-119358449	GM12878	blood:	n/a	n/a
23	BHLHE40	chr3:119356755-119357186	K562	blood:	n/a	n/a
24	CCNT2	chr3:119356881-119358023	K562	blood:	n/a	chr3:119357579-119357588
25	CEBPB	chr3:119357658-119358139	HCT-116	colon:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
26	CEBPB	chr3:119357826-119357967	H1-hESC	embryonic stem cell:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
27	CEBPB	chr3:119357722-119358122	GM12878	blood:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
28	CEBPB	chr3:119357655-119358121	K562	blood:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
29	CEBPB	chr3:119356654-119358982	GM12878	blood:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
30	CEBPB	chr3:119357666-119358046	K562	blood:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
31	CEBPB	chr3:119357666-119358052	IMR90	lung:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
32	CEBPB	chr3:119357593-119358064	K562	blood:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
33	CEBPB	chr3:119357706-119358031	A549	lung:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
34	CEBPB	chr3:119357695-119358036	Hela-S3	cervix:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
35	CEBPB	chr3:119357679-119358041	HepG2	liver:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
36	CHD1	chr3:119356809-119358320	GM12878	blood:	n/a	n/a
37	CHD2	chr3:119356906-119358581	GM12878	blood:	n/a	n/a
38	CHD2	chr3:119357826-119357980	Hela-S3	cervix:	n/a	n/a
39	CREB1	chr3:119357424-119358233	GM12878	blood:	n/a	n/a
40	CREB1	chr3:119356463-119358897	GM12878	blood:	n/a	n/a
41	CTCF	chr3:119357635-119358048	GM12878	blood:	n/a	n/a
42	CUX1	chr3:119357482-119358327	GM12878	blood:	n/a	n/a
43	CUX1	chr3:119356647-119357266	K562	blood:	n/a	n/a
44	E2F4	chr3:119356828-119357014	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr3:119357042-119357425	GM12878	blood:	n/a	n/a
46	EBF1	chr3:119356905-119358599	GM12878	blood:	n/a	n/a
47	EBF1	chr3:119356776-119358177	GM12878	blood:	n/a	n/a
48	EBF1	chr3:119357504-119358186	GM12878	blood:	n/a	n/a
49	EGR1	chr3:119357785-119358069	GM12878	blood:	n/a	chr3:119357953-119357967
50	ELF1	chr3:119357615-119358173	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119180931..119183365-chr3:119356123..119357901,2	MCF-7	breast:
2	chr3:119355104..119356665-chr3:119359282..119361780,2	K562	blood:
3	chr3:119356916..119358623-chr3:119366628..119369264,2	K562	blood:
4	chr3:119344313..119346275-chr3:119356031..119358042,2	K562	blood:

Variant related genes	Relation type
ENSG00000242052	TF binding region
ENSG00000176142	chromatin interactions
ENSG00000121577	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147086312	chr3:119355885-119355886	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561117622	chr3:119355894-119355895	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551167990	chr3:119355927-119355928	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184093138	chr3:119355941-119355942	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536767639	chr3:119355995-119355996	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74340716	chr3:119356001-119356002	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34830024	chr3:119356030-119356031	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567225870	chr3:119356053-119356054	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534645389	chr3:119356056-119356057	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138416453	chr3:119356064-119356065	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376762469	chr3:119356065-119356066	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540092043	chr3:119356080-119356081	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558392450	chr3:119356120-119356121	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34593263	chr3:119356147-119356148	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs551628483	chr3:119356151-119356152	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs142413382	chr3:119356152-119356153	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs562244810	chr3:119356155-119356156	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs80253586	chr3:119356188-119356189	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541462389	chr3:119356189-119356190	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs187553605	chr3:119356204-119356205	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533069638	chr3:119356208-119356209	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs146387488	chr3:119356209-119356210	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs563166571	chr3:119356218-119356219	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530644325	chr3:119356274-119356275	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368926635	chr3:119356277-119356278	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs191322826	chr3:119356308-119356309	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs183510689	chr3:119356336-119356337	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs71325390	chr3:119356440-119356441	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546577990	chr3:119356550-119356551	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs571114555	chr3:119356602-119356603	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs114971961	chr3:119356612-119356613	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138691580	chr3:119356637-119356638	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs570349885	chr3:119356649-119356650	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs187093089	chr3:119356746-119356747	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149537142	chr3:119356805-119356806	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144099538	chr3:119356892-119356893	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541128177	chr3:119356927-119356928	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs140497305	chr3:119356957-119356958	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35047750	chr3:119356972-119356973	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375710987	chr3:119356990-119356991	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547446888	chr3:119356994-119356995	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577588920	chr3:119356999-119357000	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544977885	chr3:119357047-119357048	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs563275860	chr3:119357117-119357118	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567654792	chr3:119357121-119357122	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs530703897	chr3:119357139-119357140	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75264110	chr3:119357202-119357203	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536290419	chr3:119357223-119357224	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs1525836	chr3:119357226-119357227	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs192761619	chr3:119357259-119357260	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
5	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:119351800-119356400	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:119352000-119357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
14	chr3:119352600-119367000	Weak transcription	Ovary	ovary
15	chr3:119352800-119356600	Weak transcription	Aorta	Aorta
16	chr3:119353800-119359000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr3:119354000-119356600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:119354000-119358000	Enhancers	Fetal Heart	heart
19	chr3:119354000-119358600	Enhancers	Left Ventricle	heart
20	chr3:119354000-119358800	Enhancers	Placenta	Placenta
21	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:119354400-119358400	Enhancers	Adipose Nuclei	Adipose
23	chr3:119354400-119358400	Enhancers	Right Atrium	heart
24	chr3:119354400-119358800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:119354600-119356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:119354600-119356600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:119354600-119356600	Enhancers	GM12878-XiMat	blood
28	chr3:119354600-119357800	Enhancers	Psoas Muscle	Psoas
29	chr3:119354600-119358400	Enhancers	HUVEC	blood vessel
30	chr3:119354800-119356000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:119354800-119356400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:119354800-119356600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:119354800-119356600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:119354800-119356600	Enhancers	NHDF-Ad	bronchial
35	chr3:119354800-119358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:119354800-119358400	Enhancers	HSMM	muscle
37	chr3:119354800-119358600	Enhancers	Small Intestine	intestine
38	chr3:119354800-119358600	Enhancers	HMEC	breast
39	chr3:119354800-119360400	Weak transcription	Lung	lung
40	chr3:119355000-119356600	Enhancers	Primary hematopoietic stem cells	blood
41	chr3:119355000-119356600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr3:119355000-119356600	Enhancers	Osteobl	bone
43	chr3:119355000-119356800	Enhancers	Stomach Mucosa	stomach
44	chr3:119355000-119357000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr3:119355000-119357000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr3:119355000-119357600	Weak transcription	Esophagus	oesophagus
47	chr3:119355000-119357600	Weak transcription	Fetal Stomach	stomach
48	chr3:119355000-119358000	Enhancers	Spleen	Spleen
49	chr3:119355000-119358200	Enhancers	HSMMtube	muscle
50	chr3:119355000-119358200	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links