Variant report

Variant	nsv508272
Chromosome Location	chr4:7591967-7722112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:7556399..7557230-chr4:7651780..7652811,3	MCF-7	breast:
2	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
3	chr4:7193893..7194671-chr4:7721003..7721515,2	K562	blood:
4	chr4:7608228..7610804-chr4:7611053..7613515,2	MCF-7	breast:
5	chr4:7717845..7720426-chr4:7722093..7724959,2	K562	blood:
6	chr4:7641611..7644029-chr4:7645745..7648263,2	K562	blood:
7	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
8	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
9	chr4:7623664..7625710-chr4:7646151..7647846,2	K562	blood:
10	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
11	chr4:7669139..7671615-chr4:7679846..7682094,2	MCF-7	breast:
12	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
13	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
14	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:
15	chr4:7696304..7698217-chr4:7701170..7702931,2	K562	blood:
16	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
17	chr4:7656713..7658782-chr4:7660668..7662448,2	K562	blood:
18	chr4:7609503..7611116-chr4:7622610..7624136,2	MCF-7	breast:
19	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:
20	chr4:7193483..7194227-chr4:7652114..7653022,2	MCF-7	breast:
21	chr4:7605625..7607831-chr4:7611111..7613660,2	MCF-7	breast:
22	chr4:7572559..7575024-chr4:7593653..7596261,2	K562	blood:
23	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
24	chr4:7663511..7665671-chr4:7672001..7674939,2	MCF-7	breast:
25	chr12:130656532..130658768-chr4:7677612..7680283,2	MCF-7	breast:
26	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:
27	chr4:7609503..7611116-chr4:7622610..7624136,2	MCF-7	breast:
28	chr4:7639269..7641408-chr4:7650130..7651685,2	MCF-7	breast:
29	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
30	chr4:7647729..7649234-chr4:7649422..7652337,2	K562	blood:
31	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
32	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
33	chr4:7673147..7675645-chr4:7680129..7682377,2	K562	blood:
34	chr4:7556337..7557293-chr4:7595770..7596324,2	MCF-7	breast:
35	chr4:7593992..7597471-chr4:7599125..7601192,3	MCF-7	breast:
36	chr4:7669509..7672314-chr4:7673040..7675673,2	MCF-7	breast:
37	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
38	chr4:7396018..7396834-chr4:7652167..7652939,2	MCF-7	breast:
39	chr4:7704327..7706362-chr4:7708150..7710089,2	MCF-7	breast:
40	chr4:7663511..7665671-chr4:7672001..7674939,2	MCF-7	breast:
41	chr4:7623664..7625710-chr4:7646151..7647846,2	K562	blood:
42	chr4:7524845..7525381-chr4:7721481..7722229,2	K562	blood:
43	chr4:7720870..7722721-chr4:7731493..7735156,3	MCF-7	breast:
44	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
45	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
46	chr4:7658992..7661318-chr4:7663721..7665550,2	MCF-7	breast:
47	chr4:7556325..7556952-chr4:7720957..7721491,2	MCF-7	breast:
48	chr4:7716222..7719124-chr4:7719418..7721619,2	MCF-7	breast:
49	chr4:7605625..7607831-chr4:7611111..7613660,2	MCF-7	breast:
50	chr4:7717399..7719546-chr4:7720941..7723402,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 7237 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:7237 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78995717	chr4:7591994-7591995	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs74462575	chr4:7591997-7591998	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs185665220	chr4:7592021-7592022	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs2359804	chr4:7592034-7592035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2359803	chr4:7592040-7592041	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565352162	chr4:7592044-7592045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs4594727	chr4:7592068-7592069	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115586117	chr4:7592103-7592104	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs189273933	chr4:7592127-7592128	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs555699767	chr4:7592129-7592130	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs537208179	chr4:7592184-7592185	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs558475313	chr4:7592209-7592210	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs577382362	chr4:7592219-7592220	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs180777472	chr4:7592241-7592242	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs144187099	chr4:7592250-7592251	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs184934350	chr4:7592252-7592253	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs542292922	chr4:7592268-7592269	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs564001991	chr4:7592274-7592275	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs531122305	chr4:7592275-7592276	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs73216611	chr4:7592282-7592283	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564546727	chr4:7592296-7592297	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs146551203	chr4:7592330-7592331	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs547075573	chr4:7592332-7592333	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs190188098	chr4:7592334-7592335	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs529631021	chr4:7592356-7592357	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs78291387	chr4:7592388-7592389	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs372969965	chr4:7592389-7592390	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs34245949	chr4:7592405-7592406	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs141384328	chr4:7592478-7592479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs115974738	chr4:7592485-7592486	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs558682167	chr4:7592490-7592491	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs570643690	chr4:7592541-7592542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs557059218	chr4:7592548-7592549	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs534839216	chr4:7592551-7592552	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs553503707	chr4:7592557-7592558	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs575028464	chr4:7592635-7592636	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs369874707	chr4:7592651-7592652	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs542170215	chr4:7592654-7592655	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs543296764	chr4:7592658-7592659	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs557083888	chr4:7592700-7592701	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs575867616	chr4:7592709-7592710	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs546195557	chr4:7592717-7592718	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs564476913	chr4:7592742-7592743	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs528640872	chr4:7592756-7592757	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs181036471	chr4:7592767-7592768	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs575729776	chr4:7592780-7592781	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs111781572	chr4:7592789-7592790	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs529743711	chr4:7592790-7592791	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs548140023	chr4:7592812-7592813	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs143900410	chr4:7592813-7592814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1608 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7586600-7592000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:7590200-7593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:7590400-7592200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:7590600-7592800	Enhancers	Brain Germinal Matrix	brain
5	chr4:7590800-7592000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:7591000-7592400	Weak transcription	Brain Substantia Nigra	brain
7	chr4:7591000-7593800	Enhancers	Fetal Brain Male	brain
8	chr4:7591600-7592000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:7591600-7592200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:7591600-7592400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:7591600-7593400	Enhancers	Brain Anterior Caudate	brain
12	chr4:7591600-7594200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr4:7591600-7594800	Enhancers	Fetal Brain Female	brain
14	chr4:7591800-7592000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:7591800-7592400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:7591800-7592600	Enhancers	NH-A	brain
17	chr4:7592000-7592400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:7592000-7592800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:7592000-7595800	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:7592200-7592400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:7592200-7592400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:7592200-7592400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:7592200-7592400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr4:7592200-7592600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:7592200-7594200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:7592400-7595200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:7592400-7595600	Enhancers	Brain Substantia Nigra	brain
28	chr4:7592400-7596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:7592600-7594400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:7592600-7594600	Enhancers	Brain Hippocampus Middle	brain
31	chr4:7592800-7593600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:7592800-7593800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr4:7592800-7594400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr4:7592800-7596600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:7593000-7593200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:7593000-7594200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:7593000-7594400	Enhancers	Brain Angular Gyrus	brain
38	chr4:7593400-7593600	Bivalent Enhancer	NH-A	brain
39	chr4:7593400-7594000	Weak transcription	Brain Anterior Caudate	brain
40	chr4:7593600-7594000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:7593800-7594000	Enhancers	Brain Germinal Matrix	brain
42	chr4:7594000-7594200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:7594000-7594400	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr4:7594000-7595200	Enhancers	Brain Anterior Caudate	brain
45	chr4:7594200-7594400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:7594200-7594600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:7594200-7596800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:7594400-7594800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:7594400-7597400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:7594400-7597600	Weak transcription	Brain Angular Gyrus	brain

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