Variant report

Variant	nsv593617
Chromosome Location	chr4:7572718-7620195
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7605625..7607831-chr4:7611111..7613660,2	MCF-7	breast:
2	chr4:7593992..7597471-chr4:7599125..7601192,3	MCF-7	breast:
3	chr4:7608228..7610804-chr4:7611053..7613515,2	MCF-7	breast:
4	chr4:7605625..7607831-chr4:7611111..7613660,2	MCF-7	breast:
5	chr4:7556333..7557087-chr4:7618224..7618986,2	MCF-7	breast:
6	chr4:7195456..7197409-chr4:7586904..7589269,2	MCF-7	breast:
7	chr4:7609503..7611116-chr4:7622610..7624136,2	MCF-7	breast:
8	chr4:7572559..7575024-chr4:7593653..7596261,2	K562	blood:
9	chr4:7580716..7582985-chr4:7585685..7587672,2	MCF-7	breast:
10	chr4:7565125..7567674-chr4:7573256..7575494,3	MCF-7	breast:
11	chr4:7587235..7591067-chr4:7593146..7595528,3	K562	blood:
12	chr4:7573157..7575387-chr4:7576113..7578284,2	MCF-7	breast:
13	chr4:7572559..7575024-chr4:7593653..7596261,2	K562	blood:
14	chr4:7593992..7597471-chr4:7599125..7601192,3	MCF-7	breast:
15	chr4:7564031..7566362-chr4:7585647..7587570,2	MCF-7	breast:
16	chr4:7573157..7575387-chr4:7576113..7578284,2	MCF-7	breast:
17	chr4:7608228..7610804-chr4:7611053..7613515,2	MCF-7	breast:
18	chr4:7587235..7591067-chr4:7593146..7595528,3	K562	blood:
19	chr4:7580716..7582985-chr4:7585685..7587672,2	MCF-7	breast:
20	chr4:7568412..7571400-chr4:7581006..7582708,2	MCF-7	breast:
21	chr4:7556337..7557293-chr4:7595770..7596324,2	MCF-7	breast:

No data

Extended variants
information (count: 2501 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2501 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11942379	chr4:7572718-7572719	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374928468	chr4:7572722-7572723	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550050081	chr4:7572727-7572728	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190891119	chr4:7572793-7572794	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144935241	chr4:7572794-7572795	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553713998	chr4:7572798-7572799	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553589865	chr4:7572876-7572877	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs115010527	chr4:7572881-7572882	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147917444	chr4:7572887-7572888	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568612048	chr4:7572907-7572908	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182764857	chr4:7572920-7572921	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs80152828	chr4:7572925-7572926	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141801503	chr4:7572936-7572937	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573090216	chr4:7572940-7572941	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565587830	chr4:7572942-7572943	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567032977	chr4:7572950-7572951	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577501535	chr4:7572962-7572963	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541590844	chr4:7572980-7572981	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185812079	chr4:7573044-7573045	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs55935147	chr4:7573131-7573132	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549107165	chr4:7573145-7573146	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs74691150	chr4:7573154-7573155	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs371307550	chr4:7573170-7573171	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs111493282	chr4:7573190-7573191	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs4689142	chr4:7573194-7573195	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs114029885	chr4:7573200-7573201	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs538605131	chr4:7573236-7573237	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs559537592	chr4:7573240-7573241	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs547181992	chr4:7573256-7573257	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs145119727	chr4:7573265-7573266	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs565885081	chr4:7573271-7573272	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs530098919	chr4:7573273-7573274	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs536301545	chr4:7573280-7573281	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs554666269	chr4:7573341-7573342	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs112979940	chr4:7573366-7573367	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569916830	chr4:7573389-7573390	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs537437139	chr4:7573405-7573406	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs191512806	chr4:7573424-7573425	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs577462055	chr4:7573435-7573436	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs559117124	chr4:7573444-7573445	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs541401165	chr4:7573457-7573458	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs553561298	chr4:7573464-7573465	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs79015635	chr4:7573483-7573484	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs4689781	chr4:7573488-7573489	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs530989334	chr4:7573492-7573493	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs149026673	chr4:7573506-7573507	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs531337684	chr4:7573514-7573515	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs543404524	chr4:7573558-7573559	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs564770585	chr4:7573567-7573568	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs143010825	chr4:7573581-7573582	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7566400-7573400	Weak transcription	Spleen	Spleen
2	chr4:7571600-7573000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:7571800-7573200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:7571800-7573800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:7572000-7573800	Enhancers	Brain Germinal Matrix	brain
6	chr4:7572200-7572800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:7572200-7572800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:7572200-7573000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:7572200-7573200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:7572200-7574000	Enhancers	Fetal Brain Male	brain
11	chr4:7572600-7575800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7572800-7573000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:7573000-7574000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr4:7573000-7574600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:7573000-7575000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:7573000-7575400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:7573200-7573600	Enhancers	Fetal Brain Female	brain
18	chr4:7573400-7573800	Enhancers	Spleen	Spleen
19	chr4:7573600-7574600	Weak transcription	Fetal Brain Female	brain
20	chr4:7573800-7575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:7573800-7575000	Weak transcription	Brain Germinal Matrix	brain
22	chr4:7574000-7574400	Weak transcription	Fetal Brain Male	brain
23	chr4:7574400-7577000	Enhancers	Fetal Brain Male	brain
24	chr4:7574600-7576200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:7574600-7576600	Enhancers	Fetal Brain Female	brain
26	chr4:7574800-7575600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:7575000-7575800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:7575000-7576200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:7575000-7576600	Enhancers	Brain Germinal Matrix	brain
30	chr4:7575400-7577000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:7575600-7582600	ZNF genes & repeats	Liver	Liver
32	chr4:7575800-7576800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:7575800-7576800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:7576000-7576800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:7576200-7576600	Weak transcription	Brain Substantia Nigra	brain
36	chr4:7577600-7580600	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr4:7577800-7578800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
38	chr4:7577800-7579800	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr4:7577800-7581800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr4:7577800-7582600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:7578000-7578600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:7578000-7578800	ZNF genes & repeats	Esophagus	oesophagus
43	chr4:7578000-7579400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr4:7578000-7579600	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr4:7578000-7580000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
46	chr4:7580600-7580800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr4:7581400-7581800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr4:7581800-7586200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:7584200-7584400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
50	chr4:7584800-7585000	Enhancers	Brain Anterior Caudate	brain

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