Variant report

Variant	nsv593571
Chromosome Location	chr4:7335948-7342311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7190742..7191404-chr4:7337213..7337934,2	MCF-7	breast:
2	chr4:7196017..7196563-chr4:7337188..7337952,2	MCF-7	breast:
3	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
4	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:
5	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:
6	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:
7	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 404 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16840065	chr4:7335948-7335949	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561275112	chr4:7335960-7335961	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs551523445	chr4:7335961-7335962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531688345	chr4:7335963-7335964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs550319708	chr4:7335968-7335969	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs113570675	chr4:7335994-7335995	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs571615208	chr4:7336063-7336064	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs532623844	chr4:7336064-7336065	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs112118347	chr4:7336070-7336071	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs190574813	chr4:7336073-7336074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs561355259	chr4:7336081-7336082	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs182362939	chr4:7336084-7336085	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs7677462	chr4:7336094-7336095	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376328474	chr4:7336150-7336151	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs376247418	chr4:7336154-7336155	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs34762772	chr4:7336222-7336223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568324874	chr4:7336224-7336225	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs185452272	chr4:7336242-7336243	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs577701826	chr4:7336267-7336268	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs150687866	chr4:7336295-7336296	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs553722163	chr4:7336309-7336310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs572162172	chr4:7336336-7336337	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs542945404	chr4:7336356-7336357	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs561136293	chr4:7336374-7336375	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs531752108	chr4:7336378-7336379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143202376	chr4:7336379-7336380	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs113249084	chr4:7336404-7336405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs189768238	chr4:7336428-7336429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs547860087	chr4:7336435-7336436	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs566153499	chr4:7336485-7336486	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs530186845	chr4:7336506-7336507	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs548495550	chr4:7336520-7336521	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs569982562	chr4:7336521-7336522	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs375697422	chr4:7336526-7336527	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs147522923	chr4:7336541-7336542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs11941375	chr4:7336552-7336553	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs115260901	chr4:7336553-7336554	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs538361902	chr4:7336631-7336632	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs553782194	chr4:7336644-7336645	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs560359769	chr4:7336645-7336646	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs527597810	chr4:7336646-7336647	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs572166727	chr4:7336666-7336667	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs11947135	chr4:7336668-7336669	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180768441	chr4:7336681-7336682	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs115558137	chr4:7336688-7336689	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs568470563	chr4:7336703-7336704	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs543736769	chr4:7336722-7336723	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs539530355	chr4:7336725-7336726	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs565175974	chr4:7336731-7336732	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs577128499	chr4:7336734-7336735	Enhancers Weak transcription Bivalent Enhancer	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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7329200-7337000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:7331200-7337200	Weak transcription	Right Ventricle	heart
3	chr4:7331400-7337400	Weak transcription	Left Ventricle	heart
4	chr4:7332000-7336600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:7332200-7336400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7333000-7336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:7333000-7336000	Enhancers	NH-A	brain
8	chr4:7333600-7339200	Enhancers	Ovary	ovary
9	chr4:7333800-7338400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7334000-7336000	Enhancers	Colonic Mucosa	Colon
11	chr4:7334000-7337000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:7334000-7337400	Weak transcription	HMEC	breast
13	chr4:7334400-7338800	Enhancers	Fetal Stomach	stomach
14	chr4:7334600-7337000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:7334600-7337200	Weak transcription	Brain Angular Gyrus	brain
16	chr4:7334600-7337200	Weak transcription	A549	lung
17	chr4:7334600-7337200	Weak transcription	HSMMtube	muscle
18	chr4:7334800-7336800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:7334800-7338000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7335000-7336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:7335000-7337000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:7335000-7337000	Weak transcription	HSMM	muscle
23	chr4:7335000-7339600	Weak transcription	Spleen	Spleen
24	chr4:7335200-7336200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:7335200-7336400	Weak transcription	Esophagus	oesophagus
26	chr4:7335200-7336400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:7335200-7337000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:7335200-7338200	Enhancers	Fetal Muscle Leg	muscle
29	chr4:7335400-7336000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:7335600-7336000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:7335600-7336400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:7335600-7337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:7335600-7337200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:7335600-7337600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:7335600-7338000	Enhancers	Brain Hippocampus Middle	brain
36	chr4:7335600-7339200	Enhancers	Brain Cingulate Gyrus	brain
37	chr4:7335600-7339600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr4:7335600-7340600	Weak transcription	Fetal Intestine Small	intestine
39	chr4:7335800-7337000	Weak transcription	Fetal Lung	lung
40	chr4:7335800-7337400	Enhancers	Fetal Thymus	thymus
41	chr4:7336000-7337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:7336000-7337400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:7336000-7337400	Weak transcription	Colonic Mucosa	Colon
44	chr4:7336000-7340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:7336000-7346200	Weak transcription	NH-A	brain
46	chr4:7336200-7336400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:7336200-7336800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:7336400-7336600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:7336400-7336800	Enhancers	Brain Anterior Caudate	brain
50	chr4:7336400-7336800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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