Variant report

Variant	nsv461215
Chromosome Location	chr4:8089598-8118561
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8101919..8103661-chr4:8104511..8106585,2	K562	blood:
2	chr4:8094362..8096472-chr4:8096849..8099675,2	MCF-7	breast:
3	chr4:8102885..8104984-chr4:8106744..8108953,3	K562	blood:
4	chr4:8098463..8100832-chr4:8106304..8108910,3	MCF-7	breast:
5	chr4:8101919..8103661-chr4:8104511..8106585,2	K562	blood:
6	chr4:8085902..8087976-chr4:8097347..8099641,2	MCF-7	breast:
7	chr4:8098463..8100832-chr4:8106304..8108910,3	MCF-7	breast:
8	chr4:8104135..8106823-chr4:8110568..8113011,2	MCF-7	breast:
9	chr4:8097226..8098995-chr4:8106673..8109329,2	K562	blood:
10	chr4:8102885..8104984-chr4:8106744..8108953,3	K562	blood:
11	chr4:8117484..8120480-chr4:8150571..8152947,2	MCF-7	breast:
12	chr4:8104135..8106823-chr4:8110568..8113011,2	MCF-7	breast:
13	chr4:8102999..8104721-chr4:8104874..8107526,2	MCF-7	breast:
14	chr4:8094362..8096472-chr4:8096849..8099675,2	MCF-7	breast:
15	chr4:8113926..8116157-chr4:8119118..8122388,3	MCF-7	breast:
16	chr4:8102999..8104721-chr4:8104874..8107526,2	MCF-7	breast:
17	chr4:8117714..8119692-chr4:8121281..8123487,2	MCF-7	breast:
18	chr4:8110955..8113093-chr4:8123812..8126057,2	MCF-7	breast:
19	chr4:8112046..8112998-chr4:8194067..8194612,3	K562	blood:
20	chr4:8097226..8098995-chr4:8106673..8109329,2	K562	blood:

No data

Extended variants
information (count: 1518 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2292739	chr4:8089598-8089599	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571658436	chr4:8089622-8089623	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372158034	chr4:8089655-8089656	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538795222	chr4:8089664-8089665	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557520808	chr4:8089690-8089691	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566365647	chr4:8089728-8089729	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139187355	chr4:8089747-8089748	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2292740	chr4:8089760-8089761	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573548737	chr4:8089845-8089846	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149969034	chr4:8089849-8089850	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375863227	chr4:8089885-8089886	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377711037	chr4:8089886-8089887	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201398067	chr4:8089896-8089897	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199520003	chr4:8089898-8089899	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367620415	chr4:8089918-8089919	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545161493	chr4:8089919-8089920	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371815593	chr4:8089920-8089921	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373865023	chr4:8089921-8089922	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190189401	chr4:8089932-8089933	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529009508	chr4:8089938-8089939	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371852350	chr4:8089955-8089956	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527914427	chr4:8089996-8089997	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192726364	chr4:8090008-8090009	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11722016	chr4:8090028-8090029	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531689560	chr4:8090029-8090030	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369575327	chr4:8090049-8090050	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573396382	chr4:8090056-8090057	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117015277	chr4:8090063-8090064	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532455847	chr4:8090066-8090067	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547514817	chr4:8090117-8090118	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566304916	chr4:8090175-8090176	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533755302	chr4:8090178-8090179	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55772638	chr4:8090182-8090183	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567454232	chr4:8090204-8090205	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184166840	chr4:8090214-8090215	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189926705	chr4:8090261-8090262	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139896809	chr4:8090266-8090267	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545100186	chr4:8090328-8090329	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553925911	chr4:8090336-8090337	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376244061	chr4:8090350-8090351	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542861477	chr4:8090352-8090353	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11722171	chr4:8090384-8090385	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143377737	chr4:8090385-8090386	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113169169	chr4:8090438-8090439	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564916233	chr4:8090497-8090498	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370121002	chr4:8090577-8090578	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572295198	chr4:8090586-8090587	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28671629	chr4:8090593-8090594	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs75000857	chr4:8090625-8090626	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77308759	chr4:8090655-8090656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8073200-8099400	Weak transcription	Psoas Muscle	Psoas
2	chr4:8078600-8095800	Weak transcription	Aorta	Aorta
3	chr4:8081400-8091600	Weak transcription	Lung	lung
4	chr4:8081600-8114400	Weak transcription	Gastric	stomach
5	chr4:8082400-8102600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:8082400-8102800	Weak transcription	Right Atrium	heart
7	chr4:8083400-8097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:8083800-8090000	Weak transcription	Fetal Heart	heart
9	chr4:8083800-8091600	Weak transcription	Esophagus	oesophagus
10	chr4:8084000-8089800	Weak transcription	Right Ventricle	heart
11	chr4:8084000-8104400	Weak transcription	Pancreas	Pancrea
12	chr4:8085800-8112000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:8086600-8089800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:8087600-8090000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:8088200-8090200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:8089000-8089600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:8089000-8090800	Strong transcription	Spleen	Spleen
18	chr4:8089200-8090000	Weak transcription	Left Ventricle	heart
19	chr4:8089400-8091600	Weak transcription	Adipose Nuclei	Adipose
20	chr4:8089600-8090200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8089800-8090400	Enhancers	Right Ventricle	heart
22	chr4:8090000-8090400	Enhancers	Fetal Heart	heart
23	chr4:8090000-8090400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr4:8090000-8090400	Enhancers	Left Ventricle	heart
25	chr4:8090000-8090600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:8090200-8090400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr4:8090200-8090400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr4:8090200-8091000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8090200-8091000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:8090200-8092600	Enhancers	HMEC	breast
31	chr4:8090400-8091600	Weak transcription	Right Ventricle	heart
32	chr4:8090400-8092600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:8090400-8100600	Weak transcription	Left Ventricle	heart
34	chr4:8090600-8092200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:8090800-8091000	Genic enhancers	Spleen	Spleen
36	chr4:8090800-8092600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:8091000-8091800	Weak transcription	Spleen	Spleen
38	chr4:8091000-8092400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:8091000-8093000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:8091200-8091600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr4:8091600-8092000	Enhancers	Fetal Muscle Trunk	muscle
42	chr4:8091600-8092000	Enhancers	Lung	lung
43	chr4:8091600-8092000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr4:8091600-8092000	Enhancers	Right Ventricle	heart
45	chr4:8091600-8092200	Enhancers	Colonic Mucosa	Colon
46	chr4:8091600-8092200	Enhancers	Esophagus	oesophagus
47	chr4:8091600-8092600	Enhancers	NHEK	skin
48	chr4:8091600-8092800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:8091600-8092800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr4:8091600-8092800	Enhancers	HUVEC	blood vessel

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