Variant report

Variant	nsv878568
Chromosome Location	chr4:7490246-7529367
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7512552..7515805-chr4:7517576..7521782,4	MCF-7	breast:
2	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
3	chr4:7516092..7517714-chr4:7519119..7521315,2	K562	blood:
4	chr4:7516092..7517714-chr4:7519119..7521315,2	K562	blood:
5	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
6	chr4:7524845..7525381-chr4:7721481..7722229,2	K562	blood:
7	chr4:7516846..7519696-chr4:7521879..7524111,2	K562	blood:
8	chr4:7516846..7519696-chr4:7521879..7524111,2	K562	blood:
9	chr4:7509518..7511220-chr4:7514824..7517339,2	K562	blood:
10	chr4:7512552..7515805-chr4:7517576..7521782,4	MCF-7	breast:
11	chr4:7513451..7515620-chr4:7531524..7533326,2	K562	blood:
12	chr4:7509518..7511220-chr4:7514824..7517339,2	K562	blood:
13	chr4:7520525..7523407-chr4:7542100..7544094,2	K562	blood:

No data

Extended variants
information (count: 2193 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2193 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10937827	chr4:7490246-7490247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181812907	chr4:7490296-7490297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187416560	chr4:7490332-7490333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551342987	chr4:7490333-7490334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117693751	chr4:7490342-7490343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540086461	chr4:7490358-7490359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16840391	chr4:7490359-7490360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189248798	chr4:7490390-7490391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544594650	chr4:7490394-7490395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7685032	chr4:7490413-7490414	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs113309139	chr4:7490431-7490432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180975656	chr4:7490432-7490433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112858905	chr4:7490437-7490438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556694665	chr4:7490438-7490439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377712408	chr4:7490444-7490445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142566943	chr4:7490466-7490467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146321365	chr4:7490468-7490469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376545621	chr4:7490469-7490470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11730684	chr4:7490500-7490501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs562162998	chr4:7490507-7490508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529360492	chr4:7490563-7490564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551206008	chr4:7490628-7490629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563066015	chr4:7490629-7490630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76844177	chr4:7490638-7490639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148538861	chr4:7490647-7490648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570392974	chr4:7490703-7490704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12331653	chr4:7490717-7490718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559855475	chr4:7490718-7490719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142770808	chr4:7490724-7490725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185149934	chr4:7490749-7490750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7690364	chr4:7490757-7490758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4096	chr4:7490764-7490765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs386671233	chr4:7490804-7490805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10937828	chr4:7490805-7490806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4086	chr4:7490808-7490809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs151031188	chr4:7490821-7490822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114845288	chr4:7490822-7490823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374383014	chr4:7490849-7490850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574199170	chr4:7490858-7490859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368556054	chr4:7490865-7490866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139713211	chr4:7490866-7490867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10805000	chr4:7490876-7490877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs10937829	chr4:7490895-7490896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs369337546	chr4:7490900-7490901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560842883	chr4:7490922-7490923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189593516	chr4:7490929-7490930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546201301	chr4:7490945-7490946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567688645	chr4:7490975-7490976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528981801	chr4:7490978-7490979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183003174	chr4:7491069-7491070	Enhancers Weak transcription	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7487800-7490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:7488000-7490400	Enhancers	Brain Germinal Matrix	brain
3	chr4:7488400-7490600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:7488800-7491000	Enhancers	Fetal Brain Male	brain
5	chr4:7489800-7490400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:7490200-7490400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7490200-7491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:7490200-7498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:7490600-7491000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:7491000-7491800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:7491400-7491600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:7492000-7493200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:7493200-7493400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:7493600-7494400	Weak transcription	Esophagus	oesophagus
15	chr4:7495600-7495800	Bivalent Enhancer	Fetal Brain Male	brain
16	chr4:7496400-7497800	Enhancers	Brain Substantia Nigra	brain
17	chr4:7496600-7497600	Enhancers	Brain Cingulate Gyrus	brain
18	chr4:7496800-7497000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:7496800-7497600	Enhancers	Brain Anterior Caudate	brain
20	chr4:7496800-7498000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:7497000-7497800	Enhancers	Brain Hippocampus Middle	brain
22	chr4:7497200-7497400	Enhancers	Brain Angular Gyrus	brain
23	chr4:7497400-7497600	Enhancers	Brain Germinal Matrix	brain
24	chr4:7497400-7497600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:7497400-7497600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr4:7497600-7498200	Weak transcription	Brain Germinal Matrix	brain
27	chr4:7497600-7500800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:7497600-7501000	Weak transcription	Brain Anterior Caudate	brain
29	chr4:7497600-7501000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:7497800-7498800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr4:7497800-7501200	Weak transcription	Brain Substantia Nigra	brain
32	chr4:7498000-7500200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:7498200-7499200	Enhancers	Brain Germinal Matrix	brain
34	chr4:7498400-7499000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:7498600-7498800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr4:7498600-7499000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:7499000-7500800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:7499200-7499600	Weak transcription	Brain Germinal Matrix	brain
39	chr4:7499600-7502200	Enhancers	Brain Germinal Matrix	brain
40	chr4:7499800-7502000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr4:7500000-7500200	Weak transcription	Brain Angular Gyrus	brain
42	chr4:7500000-7500600	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr4:7500200-7500400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:7500200-7500800	Enhancers	Brain Hippocampus Middle	brain
45	chr4:7500200-7503200	Enhancers	Brain Angular Gyrus	brain
46	chr4:7500200-7503200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr4:7500600-7500800	Bivalent Enhancer	Fetal Brain Male	brain
48	chr4:7500800-7501200	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:7500800-7501800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:7500800-7502200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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