Variant report

Variant	nsv878558
Chromosome Location	chr4:7329426-7363952
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7355383..7357989-chr4:7359924..7361691,2	MCF-7	breast:
2	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
3	chr4:7196017..7196563-chr4:7337188..7337952,2	MCF-7	breast:
4	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:
5	chr4:7320638..7322307-chr4:7344162..7346358,2	K562	blood:
6	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
7	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:
8	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:
9	chr4:7344494..7346063-chr4:7349701..7352195,2	MCF-7	breast:
10	chr4:7343522..7345728-chr4:7361522..7364374,3	MCF-7	breast:
11	chr4:7190742..7191404-chr4:7337213..7337934,2	MCF-7	breast:
12	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
13	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:
14	chr4:7343522..7345728-chr4:7361522..7364374,3	MCF-7	breast:
15	chr4:7344494..7346063-chr4:7349701..7352195,2	MCF-7	breast:
16	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:
17	chr4:7355383..7357989-chr4:7359924..7361691,2	MCF-7	breast:
18	chr4:7328869..7330375-chr4:7332248..7333752,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 1870 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1870 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3864202	chr4:7329426-7329427	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570534700	chr4:7329430-7329431	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs6823860	chr4:7329446-7329447	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113912562	chr4:7329451-7329452	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs185843222	chr4:7329452-7329453	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs535423620	chr4:7329491-7329492	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs138213512	chr4:7329494-7329495	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs577434899	chr4:7329498-7329499	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs71173494	chr4:7329504-7329505	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs368435384	chr4:7329520-7329521	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs35864377	chr4:7329529-7329530	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs528313573	chr4:7329530-7329531	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs6842332	chr4:7329535-7329536	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3892280	chr4:7329537-7329538	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540310185	chr4:7329544-7329545	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs547995931	chr4:7329545-7329546	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs368715614	chr4:7329546-7329547	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs529483275	chr4:7329550-7329551	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs191037856	chr4:7329551-7329552	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs183805086	chr4:7329557-7329558	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs559956893	chr4:7329587-7329588	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs142856281	chr4:7329599-7329600	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs187978221	chr4:7329614-7329615	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs530543618	chr4:7329625-7329626	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs6829129	chr4:7329667-7329668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs111457580	chr4:7329672-7329673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs570438587	chr4:7329673-7329674	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs201547802	chr4:7329746-7329747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs60976971	chr4:7329762-7329763	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs534755467	chr4:7329772-7329773	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs369122517	chr4:7329781-7329782	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs6846332	chr4:7329798-7329799	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190860682	chr4:7329862-7329863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs140032399	chr4:7329864-7329865	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs113031823	chr4:7329876-7329877	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs539331074	chr4:7329895-7329896	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs565261616	chr4:7329897-7329898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs377012517	chr4:7329920-7329921	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs77340289	chr4:7329936-7329937	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs182665994	chr4:7329975-7329976	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs113527696	chr4:7330015-7330016	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs540413730	chr4:7330048-7330049	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs562174088	chr4:7330052-7330053	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs550958346	chr4:7330056-7330057	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs574155138	chr4:7330057-7330058	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs199759465	chr4:7330058-7330059	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs374927435	chr4:7330078-7330079	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs3892224	chr4:7330107-7330108	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533704658	chr4:7330114-7330115	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs530476496	chr4:7330119-7330120	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7323000-7330800	Weak transcription	Right Atrium	heart
2	chr4:7323600-7331600	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:7324400-7335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:7325200-7329800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:7327600-7331600	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr4:7327800-7331400	Enhancers	Brain Hippocampus Middle	brain
7	chr4:7328000-7331400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:7328000-7331400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:7328200-7329600	Enhancers	Brain Angular Gyrus	brain
10	chr4:7328200-7329600	Enhancers	Brain Anterior Caudate	brain
11	chr4:7328200-7329600	Enhancers	Stomach Smooth Muscle	stomach
12	chr4:7328200-7331800	Enhancers	Brain Substantia Nigra	brain
13	chr4:7328200-7335000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:7328400-7329600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:7328400-7329600	Enhancers	NH-A	brain
16	chr4:7328600-7329600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:7329000-7329600	Enhancers	Hela-S3	cervix
18	chr4:7329000-7330400	Weak transcription	Esophagus	oesophagus
19	chr4:7329000-7333800	Weak transcription	Fetal Lung	lung
20	chr4:7329200-7330200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:7329200-7330200	Weak transcription	HSMM	muscle
22	chr4:7329200-7337000	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:7329400-7330000	Weak transcription	HSMMtube	muscle
24	chr4:7329400-7330400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:7329400-7330400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:7329400-7330400	Weak transcription	Right Ventricle	heart
27	chr4:7329400-7330400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:7329400-7330600	Weak transcription	Ovary	ovary
29	chr4:7329400-7333800	Weak transcription	Spleen	Spleen
30	chr4:7329600-7330000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:7329600-7330000	Weak transcription	Brain Angular Gyrus	brain
32	chr4:7329600-7330000	Weak transcription	Brain Anterior Caudate	brain
33	chr4:7329600-7330000	Weak transcription	Hela-S3	cervix
34	chr4:7329600-7330000	Weak transcription	NH-A	brain
35	chr4:7329600-7330600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:7329600-7330800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:7329600-7330800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:7330000-7331400	Enhancers	Brain Angular Gyrus	brain
39	chr4:7330000-7331400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr4:7330000-7331400	Enhancers	Hela-S3	cervix
41	chr4:7330000-7331600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:7330000-7331600	Enhancers	HSMMtube	muscle
43	chr4:7330000-7331600	Enhancers	NH-A	brain
44	chr4:7330000-7332200	Enhancers	Brain Anterior Caudate	brain
45	chr4:7330200-7331000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:7330200-7331200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr4:7330200-7331200	Enhancers	Rectal Smooth Muscle	rectum
48	chr4:7330200-7331400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:7330200-7331400	Enhancers	HSMM	muscle
50	chr4:7330200-7331800	Enhancers	A549	lung

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