Variant report

Variant	nsv964074
Chromosome Location	chr4:95286219-95292123
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	EP300	chr4:95284298-95286517	SK-N-SH	brain:	n/a	chr4:95284547-95284561 chr4:95284548-95284562 chr4:95284576-95284585 chr4:95284546-95284560 chr4:95284572-95284586 chr4:95284415-95284425
2	FOS	chr4:95286469-95286798	HUVEC	blood vessel:	n/a	chr4:95286589-95286598
3	GATA3	chr4:95285520-95286223	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr4:95290067-95290413	T-47D	breast:	n/a	n/a
5	IRF1	chr4:95291695-95291851	K562	blood:	n/a	chr4:95291764-95291773
6	MAFK	chr4:95290448-95290642	IMR90	lung:	n/a	chr4:95290585-95290601 chr4:95290588-95290605 chr4:95290585-95290596 chr4:95290502-95290511 chr4:95290586-95290597 chr4:95290585-95290596 chr4:95290501-95290511
7	MAFK	chr4:95290445-95290514	K562	blood:	n/a	chr4:95290502-95290511 chr4:95290501-95290511
8	MAFK	chr4:95290374-95290722	HepG2	liver:	n/a	chr4:95290585-95290601 chr4:95290588-95290605 chr4:95290585-95290596 chr4:95290502-95290511 chr4:95290586-95290597 chr4:95290585-95290596 chr4:95290501-95290511
9	NFYA	chr4:95286170-95286499	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:95289578-95290076	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr4:95291877-95292008	ProgFib	skin:	n/a	n/a
12	POLR2A	chr4:95289580-95289985	H1-neurons	neurons:	n/a	n/a
13	RCOR1	chr4:95291521-95291801	K562	blood:	n/a	n/a
14	SPI1	chr4:95291653-95291845	K562	blood:	n/a	chr4:95291753-95291760 chr4:95291759-95291772

No.	Distal block	Cell Line	Cell type
1	chr4:95281322..95284168-chr4:95287394..95289244,2	K562	blood:
2	chr4:95285373..95288161-chr4:95288745..95292306,3	K562	blood:
3	chr4:95266109..95267658-chr4:95291382..95293915,2	K562	blood:
4	chr4:95287113..95289121-chr4:95292704..95294329,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCAD1-1	chr4:95290984-95291314	NONHSAT097447

Variant related genes	Relation type
ENSG00000241103	TF binding region
ENSG00000241103	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs568873856	chr4:95286275-95286276	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373141994	chr4:95286301-95286302	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545989130	chr4:95286321-95286322	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555657189	chr4:95286347-95286348	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374670271	chr4:95286349-95286350	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548007513	chr4:95286373-95286374	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567884470	chr4:95286409-95286410	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368670360	chr4:95286434-95286435	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551116345	chr4:95286489-95286490	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149926912	chr4:95286505-95286506	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6419132	chr4:95286541-95286542	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553663230	chr4:95286641-95286642	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189133673	chr4:95286645-95286646	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192472909	chr4:95286681-95286682	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184471111	chr4:95286734-95286735	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367725984	chr4:95286794-95286795	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374921784	chr4:95286798-95286799	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145014513	chr4:95286814-95286815	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190185669	chr4:95286834-95286835	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142188521	chr4:95286839-95286840	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72888622	chr4:95286870-95286871	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144477947	chr4:95286907-95286908	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527424103	chr4:95286952-95286953	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540881673	chr4:95286996-95286997	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61457334	chr4:95286999-95287000	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529454185	chr4:95287040-95287041	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549343585	chr4:95287041-95287042	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371869019	chr4:95287042-95287043	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562580153	chr4:95287045-95287046	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs578038460	chr4:95287055-95287056	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374652291	chr4:95287065-95287066	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78561283	chr4:95287086-95287087	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75642046	chr4:95287108-95287109	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570871984	chr4:95287137-95287138	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533550149	chr4:95287138-95287139	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181396447	chr4:95287142-95287143	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567240581	chr4:95287155-95287156	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545116690	chr4:95287158-95287159	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536433193	chr4:95287204-95287205	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372351258	chr4:95287205-95287206	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368410810	chr4:95287283-95287284	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141123881	chr4:95287304-95287305	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146942152	chr4:95287314-95287315	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560538381	chr4:95287316-95287317	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375412716	chr4:95287321-95287322	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537995637	chr4:95287325-95287326	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558285069	chr4:95287378-95287379	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527641447	chr4:95287444-95287445	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542923666	chr4:95287460-95287461	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186413654	chr4:95287473-95287474	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95284800-95287600	Enhancers	HUVEC	blood vessel
2	chr4:95285000-95286600	Weak transcription	NH-A	brain
3	chr4:95285600-95286600	Weak transcription	Osteobl	bone
4	chr4:95286000-95287200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:95286200-95287000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:95286600-95286800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:95286600-95287000	Enhancers	NH-A	brain
8	chr4:95286600-95287000	Enhancers	Osteobl	bone
9	chr4:95290000-95290600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:95291200-95291800	Enhancers	Fetal Muscle Leg	muscle
11	chr4:95291200-95291800	Enhancers	K562	blood
12	chr4:95291800-95293200	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:95291800-95306200	Weak transcription	K562	blood

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