Variant report

Variant	esv3326180
Chromosome Location	chr4:7458798-7459700
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	BACH1	chr4:7459110-7459520	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:7458880-7459030	HEK293	kidney:	n/a	n/a
3	CTCF	chr4:7458900-7459050	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7455060..7457538-chr4:7459563..7461357,2	K562	blood:
2	chr4:7452936..7455745-chr4:7457448..7459365,2	MCF-7	breast:
3	chr4:7444681..7447159-chr4:7457852..7459823,2	MCF-7	breast:

Variant related genes	Relation type
MIR4274	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73086394	chr4:7458845-7458846	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543048314	chr4:7458860-7458861	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10023729	chr4:7458861-7458862	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545376673	chr4:7458887-7458888	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145291779	chr4:7458899-7458900	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559357380	chr4:7458900-7458901	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73086396	chr4:7458920-7458921	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73796595	chr4:7458923-7458924	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563593613	chr4:7458942-7458943	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376151161	chr4:7458964-7458965	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs188437843	chr4:7458977-7458978	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs193051118	chr4:7458995-7458996	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs10033834	chr4:7458996-7458997	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73091595	chr4:7459035-7459036	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs554319979	chr4:7459045-7459046	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535668357	chr4:7459067-7459068	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557115881	chr4:7459096-7459097	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs572440461	chr4:7459119-7459120	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs74635805	chr4:7459120-7459121	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147653651	chr4:7459124-7459125	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558561487	chr4:7459138-7459139	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs543254412	chr4:7459139-7459140	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs116865728	chr4:7459143-7459144	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568284877	chr4:7459146-7459147	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7678165	chr4:7459158-7459159	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111353961	chr4:7459176-7459177	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs142119154	chr4:7459183-7459184	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374233335	chr4:7459186-7459187	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113801562	chr4:7459190-7459191	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563452339	chr4:7459191-7459192	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112895829	chr4:7459197-7459198	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113257430	chr4:7459206-7459207	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530873385	chr4:7459213-7459214	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs545771853	chr4:7459216-7459217	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185564645	chr4:7459228-7459229	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs564367046	chr4:7459229-7459230	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs557070171	chr4:7459246-7459247	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs373694751	chr4:7459255-7459256	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11729468	chr4:7459260-7459261	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs141001367	chr4:7459261-7459262	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370870307	chr4:7459275-7459276	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187862610	chr4:7459301-7459302	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs550806422	chr4:7459302-7459303	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569096253	chr4:7459306-7459307	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs7694518	chr4:7459344-7459345	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
46	rs558169198	chr4:7459408-7459409	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112968114	chr4:7459417-7459418	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371742566	chr4:7459430-7459431	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552920345	chr4:7459433-7459434	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs574615877	chr4:7459435-7459436	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
2	chr4:7455000-7460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7458200-7459400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7458800-7459200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:7458800-7459200	Active TSS	Spleen	Spleen
6	chr4:7459000-7459400	Enhancers	Gastric	stomach
7	chr4:7459000-7463200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:7459200-7459400	Bivalent Enhancer	Lung	lung
9	chr4:7459200-7459600	Bivalent Enhancer	Fetal Stomach	stomach
10	chr4:7459400-7460000	Enhancers	Brain Germinal Matrix	brain
11	chr4:7459400-7460600	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr4:7459400-7460800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:7459400-7462400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:7459600-7459800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr4:7459600-7459800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links