Variant report

Variant	nsv593573
Chromosome Location	chr4:7440581-7444178
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	CHD2	chr4:7441612-7441614	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr4:7441458-7441635	HepG2	liver:	n/a	n/a
3	MYC	chr4:7443168-7443179	MCF-7	breast:	n/a	n/a
4	SETDB1	chr4:7440641-7441113	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7426666..7428188-chr4:7440042..7442576,2	MCF-7	breast:
2	chr4:7436453..7438238-chr4:7441242..7443096,2	MCF-7	breast:
3	chr4:7432269..7435967-chr4:7438458..7442398,4	MCF-7	breast:
4	chr4:7421765..7423604-chr4:7439157..7441831,2	K562	blood:

Variant related genes	Relation type
PSAPL1	TF binding region
ENSG00000178597	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs10002322	chr4:7440581-7440582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140443734	chr4:7440586-7440587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576944409	chr4:7440592-7440593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200512780	chr4:7440599-7440600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116348352	chr4:7440604-7440605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559382017	chr4:7440614-7440615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375142738	chr4:7440619-7440620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565000780	chr4:7440659-7440660	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs181896670	chr4:7440679-7440680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs34063110	chr4:7440689-7440690	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77823872	chr4:7440706-7440707	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76147301	chr4:7440711-7440712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186874727	chr4:7440748-7440749	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs528676032	chr4:7440794-7440795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527776335	chr4:7440831-7440832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549646058	chr4:7440837-7440838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547312253	chr4:7440859-7440860	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569670344	chr4:7440887-7440888	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567321106	chr4:7440890-7440891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs202180753	chr4:7440906-7440907	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538752406	chr4:7440910-7440911	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs61638263	chr4:7440912-7440913	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs568668292	chr4:7440923-7440924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs398063233	chr4:7440924-7440925	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs149983635	chr4:7440936-7440937	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191449638	chr4:7440946-7440947	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10033367	chr4:7440951-7440952	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569274546	chr4:7441003-7441004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182479626	chr4:7441005-7441006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs558205665	chr4:7441006-7441007	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570671364	chr4:7441054-7441055	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs534507803	chr4:7441058-7441059	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs553087921	chr4:7441081-7441082	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs186075355	chr4:7441085-7441086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs542113807	chr4:7441132-7441133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368315712	chr4:7441144-7441145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557428326	chr4:7441167-7441168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373794101	chr4:7441217-7441218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575687975	chr4:7441235-7441236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114892385	chr4:7441245-7441246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537176742	chr4:7441261-7441262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528546997	chr4:7441269-7441270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540472083	chr4:7441283-7441284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4234805	chr4:7441323-7441324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529557158	chr4:7441356-7441357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550845013	chr4:7441387-7441388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569336043	chr4:7441395-7441396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530420089	chr4:7441396-7441397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372470943	chr4:7441409-7441410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570459293	chr4:7441421-7441422	Weak transcription Enhancers	Chromatin interactive 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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7436800-7443000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
3	chr4:7438200-7442600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7438200-7447000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7440200-7441200	Weak transcription	Stomach Mucosa	stomach
6	chr4:7441200-7442000	Enhancers	HSMMtube	muscle
7	chr4:7441200-7442800	Enhancers	Stomach Mucosa	stomach
8	chr4:7442000-7442200	Flanking Active TSS	HSMMtube	muscle
9	chr4:7442200-7443000	Enhancers	Esophagus	oesophagus
10	chr4:7442600-7442800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:7442600-7443400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7442800-7443000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:7442800-7443200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:7443000-7443200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:7443000-7443200	Enhancers	Stomach Mucosa	stomach
16	chr4:7443000-7443400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:7443000-7443400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7443200-7443400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:7443200-7444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:7443400-7444400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:7443400-7444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:7443400-7444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:7443400-7444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links