Variant report

Variant	nsv878552
Chromosome Location	chr4:7321511-7341243
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7196017..7196563-chr4:7337188..7337952,2	MCF-7	breast:
2	chr4:7320638..7322307-chr4:7344162..7346358,2	K562	blood:
3	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
4	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
5	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:
6	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
7	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
8	chr4:7308048..7310472-chr4:7320955..7323841,2	MCF-7	breast:
9	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
10	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:
11	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:
12	chr4:7190742..7191404-chr4:7337213..7337934,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 1129 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1129 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3916118	chr4:7321511-7321512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79770110	chr4:7321561-7321562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142795265	chr4:7321564-7321565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561866869	chr4:7321572-7321573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115119157	chr4:7321586-7321587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3916117	chr4:7321596-7321597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78479889	chr4:7321674-7321675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16840033	chr4:7321680-7321681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537481176	chr4:7321755-7321756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113335035	chr4:7321756-7321757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552092390	chr4:7321773-7321774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113048588	chr4:7321796-7321797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534636588	chr4:7321802-7321803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148732154	chr4:7321818-7321819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574470827	chr4:7321827-7321828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386671197	chr4:7321863-7321864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555115590	chr4:7321865-7321866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201330602	chr4:7321866-7321867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3916116	chr4:7321867-7321868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114888024	chr4:7321868-7321869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58738443	chr4:7321874-7321875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142345067	chr4:7321895-7321896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73208466	chr4:7321899-7321900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573022829	chr4:7321914-7321915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540245208	chr4:7321975-7321976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551419764	chr4:7321985-7321986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193296553	chr4:7321987-7321988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554128132	chr4:7322056-7322057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527431336	chr4:7322097-7322098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529226048	chr4:7322099-7322100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116181049	chr4:7322204-7322205	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562633187	chr4:7322222-7322223	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572600619	chr4:7322238-7322239	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549346671	chr4:7322248-7322249	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113973029	chr4:7322276-7322277	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12648239	chr4:7322286-7322287	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183188441	chr4:7322287-7322288	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528011177	chr4:7322293-7322294	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12650279	chr4:7322294-7322295	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568111359	chr4:7322333-7322334	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535436104	chr4:7322340-7322341	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557104132	chr4:7322356-7322357	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568810251	chr4:7322364-7322365	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543885994	chr4:7322407-7322408	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114351970	chr4:7322411-7322412	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4025911	chr4:7322422-7322423	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1104939	chr4:7322423-7322424	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186760545	chr4:7322427-7322428	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555239067	chr4:7322464-7322465	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573737084	chr4:7322489-7322490	Enhancers ZNF genes & repeats Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7311800-7326400	Weak transcription	Fetal Brain Male	brain
2	chr4:7315600-7324200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:7315800-7322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7321400-7323600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7321800-7322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:7322200-7322400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:7322200-7322400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:7322200-7322400	Enhancers	Fetal Muscle Leg	muscle
9	chr4:7322200-7322400	ZNF genes & repeats	HSMMtube	muscle
10	chr4:7322200-7322600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:7322200-7322600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:7322200-7322600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:7322400-7324000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:7322400-7328400	Weak transcription	HSMMtube	muscle
15	chr4:7322600-7323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:7322600-7325800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:7323000-7330800	Weak transcription	Right Atrium	heart
18	chr4:7323200-7324000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:7323400-7323600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7323400-7324400	Enhancers	Brain Germinal Matrix	brain
21	chr4:7323600-7324000	Enhancers	Brain Substantia Nigra	brain
22	chr4:7323600-7324400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7323600-7324800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:7323600-7325400	Enhancers	Fetal Lung	lung
25	chr4:7323600-7325400	Enhancers	Fetal Stomach	stomach
26	chr4:7323600-7325600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:7323600-7327200	Enhancers	Brain Anterior Caudate	brain
28	chr4:7323600-7331600	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:7323800-7324200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:7323800-7324400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:7323800-7324400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:7323800-7324400	Bivalent Enhancer	Placenta	Placenta
33	chr4:7323800-7324600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr4:7323800-7324800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:7323800-7324800	Enhancers	Ovary	ovary
36	chr4:7323800-7326400	Enhancers	Brain Hippocampus Middle	brain
37	chr4:7323800-7326800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:7323800-7327000	Enhancers	Brain Angular Gyrus	brain
39	chr4:7324000-7324400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:7324000-7324400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:7324000-7324400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr4:7324000-7324400	Enhancers	Fetal Intestine Small	intestine
43	chr4:7324000-7324400	Enhancers	NH-A	brain
44	chr4:7324000-7324600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:7324000-7324800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:7324200-7324400	Enhancers	Lung	lung
47	chr4:7324200-7324600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:7324200-7324800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:7324200-7325000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:7324200-7325000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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