Variant report

Variant	nsv593612
Chromosome Location	chr4:7475424-7489534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7474972..7476940-chr4:7478120..7479939,2	MCF-7	breast:
2	chr4:7474972..7476940-chr4:7478120..7479939,2	MCF-7	breast:
3	chr4:7475842..7476773-chr4:7652108..7653034,2	MCF-7	breast:

Extended variants
information (count: 893 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7683874	chr4:7475424-7475425	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566706199	chr4:7475436-7475437	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6446603	chr4:7475444-7475445	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147282377	chr4:7475460-7475461	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77033454	chr4:7475470-7475471	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556612622	chr4:7475485-7475486	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184628681	chr4:7475493-7475494	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545526940	chr4:7475494-7475495	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190249110	chr4:7475522-7475523	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7685651	chr4:7475572-7475573	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540898511	chr4:7475580-7475581	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539952908	chr4:7475582-7475583	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561416760	chr4:7475638-7475639	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548285391	chr4:7475649-7475650	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114610500	chr4:7475654-7475655	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543994915	chr4:7475677-7475678	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181496352	chr4:7475703-7475704	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78151356	chr4:7475704-7475705	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7668079	chr4:7475757-7475758	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537294401	chr4:7475780-7475781	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560550827	chr4:7475790-7475791	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187645806	chr4:7475796-7475797	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150892437	chr4:7475806-7475807	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7668114	chr4:7475812-7475813	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111695491	chr4:7475819-7475820	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368543319	chr4:7475820-7475821	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111800766	chr4:7475822-7475823	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189309983	chr4:7475842-7475843	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371959598	chr4:7475846-7475847	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79636461	chr4:7475864-7475865	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560942908	chr4:7475868-7475869	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113359758	chr4:7475873-7475874	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533530992	chr4:7475895-7475896	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34157472	chr4:7475980-7475981	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555085845	chr4:7476017-7476018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139416560	chr4:7476018-7476019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375223380	chr4:7476022-7476023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180970790	chr4:7476052-7476053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368164847	chr4:7476063-7476064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11736890	chr4:7476088-7476089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368627997	chr4:7476100-7476101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144370920	chr4:7476103-7476104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75439553	chr4:7476113-7476114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527719393	chr4:7476188-7476189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112871916	chr4:7476219-7476220	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs11736935	chr4:7476225-7476226	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531843423	chr4:7476258-7476259	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs549966699	chr4:7476262-7476263	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs369114150	chr4:7476263-7476264	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs11736976	chr4:7476265-7476266	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Cancer	20164919	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7471600-7480600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:7473200-7476000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7475200-7475600	Enhancers	Right Atrium	heart
4	chr4:7475400-7476600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:7476000-7482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:7476200-7476800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr4:7476600-7476800	Enhancers	Brain Germinal Matrix	brain
8	chr4:7477000-7477200	Enhancers	Fetal Muscle Leg	muscle
9	chr4:7477200-7478600	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:7478200-7479400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:7478400-7479000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:7478600-7478800	Bivalent Enhancer	HepG2	liver
13	chr4:7478600-7479600	Enhancers	Fetal Muscle Leg	muscle
14	chr4:7479600-7479800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:7480000-7480600	Bivalent Enhancer	HepG2	liver
16	chr4:7481200-7481400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr4:7482800-7483600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7483000-7483600	Active TSS	Gastric	stomach
19	chr4:7483600-7486400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7484000-7486800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:7485800-7486000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:7486000-7486200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:7486000-7486800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:7486000-7487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:7486000-7487600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:7486400-7487200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:7486400-7487400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:7486400-7488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:7486600-7486800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:7486600-7487200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:7486800-7487000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:7486800-7487200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:7486800-7487200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:7486800-7487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:7487200-7487400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:7487200-7487600	Enhancers	Fetal Intestine Small	intestine
37	chr4:7487200-7488800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:7487200-7488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:7487400-7487600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:7487400-7488200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:7487400-7488400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:7487600-7488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:7487600-7489800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:7487800-7490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:7488000-7488200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:7488000-7490400	Enhancers	Brain Germinal Matrix	brain
47	chr4:7488200-7490200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:7488400-7489200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr4:7488400-7489600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:7488400-7490200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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