Variant report

Variant	nsv4218
Chromosome Location	chr4:7225196-7270057
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:2)
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	chr4:7211941..7214123-chr4:7236956..7238612,2	MCF-7	breast:
2	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
3	chr4:7213661..7215472-chr4:7265582..7267704,2	MCF-7	breast:
4	chr4:7248341..7250372-chr4:7253151..7255642,2	MCF-7	breast:
5	chr4:7248341..7250372-chr4:7253151..7255642,2	MCF-7	breast:
6	chr4:7194397..7197077-chr4:7223002..7225801,2	MCF-7	breast:
7	chr4:7216458..7218231-chr4:7235155..7236680,2	K562	blood:
8	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
9	chr4:7228120..7231404-chr4:7234917..7238426,3	MCF-7	breast:
10	chr4:7228120..7231404-chr4:7234917..7238426,3	MCF-7	breast:
11	chr4:7225034..7227049-chr4:7228519..7230388,2	K562	blood:
12	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:
13	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
14	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
15	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:
16	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
17	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:
18	chr4:7225034..7227049-chr4:7228519..7230388,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TADA2B-4	chr4:7259241-7259517	NONHSAT095054
2	lnc-TADA2B-4	chr4:7264564-7264801	NONHSAT095054

No data

Extended variants
information (count: 2303 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2303 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568265053	chr4:7225216-7225217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551355224	chr4:7225252-7225253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140018636	chr4:7225268-7225269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202100198	chr4:7225337-7225338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16839855	chr4:7225339-7225340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533843561	chr4:7225356-7225357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369298303	chr4:7225373-7225374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34574024	chr4:7225389-7225390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6816930	chr4:7225405-7225406	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs548834734	chr4:7225407-7225408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs77027479	chr4:7225408-7225409	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs62289710	chr4:7225435-7225436	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs62289711	chr4:7225452-7225453	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs537685449	chr4:7225454-7225455	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs182051836	chr4:7225474-7225475	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs577471615	chr4:7225504-7225505	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs538557871	chr4:7225529-7225530	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs11934579	chr4:7225543-7225544	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186389860	chr4:7225545-7225546	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs543089800	chr4:7225577-7225578	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs4689089	chr4:7225587-7225588	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs113535968	chr4:7225599-7225600	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs386671181	chr4:7225600-7225601	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs369054065	chr4:7225603-7225604	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs58660277	chr4:7225605-7225606	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs370525967	chr4:7225608-7225609	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs56758623	chr4:7225609-7225610	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs58006312	chr4:7225612-7225613	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs576573069	chr4:7225613-7225614	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs58812425	chr4:7225617-7225618	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs57770065	chr4:7225618-7225619	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs139665671	chr4:7225621-7225622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs543602916	chr4:7225627-7225628	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs565487548	chr4:7225667-7225668	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs532819384	chr4:7225707-7225708	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs4689656	chr4:7225745-7225746	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79972597	chr4:7225795-7225796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs143024327	chr4:7225817-7225818	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs4689657	chr4:7225818-7225819	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11935586	chr4:7225837-7225838	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542476259	chr4:7225865-7225866	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs551716242	chr4:7225894-7225895	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs537952096	chr4:7225914-7225915	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569313801	chr4:7225930-7225931	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs549672030	chr4:7226059-7226060	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs79593145	chr4:7226062-7226063	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs538520652	chr4:7226076-7226077	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs147466119	chr4:7226091-7226092	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs13115404	chr4:7226101-7226102	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536294237	chr4:7226118-7226119	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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7212800-7225400	Weak transcription	Ovary	ovary
2	chr4:7216600-7228600	Weak transcription	Right Atrium	heart
3	chr4:7216800-7227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7218600-7228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:7220800-7225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:7220800-7227800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7224400-7226200	Enhancers	Fetal Muscle Leg	muscle
8	chr4:7224600-7225800	Enhancers	HSMMtube	muscle
9	chr4:7224600-7226200	Enhancers	A549	lung
10	chr4:7224800-7225400	Weak transcription	Lung	lung
11	chr4:7224800-7226200	Enhancers	Hela-S3	cervix
12	chr4:7224800-7228800	Weak transcription	Fetal Heart	heart
13	chr4:7225000-7238600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:7225400-7225600	Enhancers	Ovary	ovary
15	chr4:7225400-7226000	Enhancers	Lung	lung
16	chr4:7225400-7226200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:7225400-7226600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:7226000-7228000	Weak transcription	Lung	lung
19	chr4:7226200-7227000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:7226200-7227600	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:7226400-7226600	Enhancers	Fetal Stomach	stomach
22	chr4:7226600-7227200	Weak transcription	Fetal Stomach	stomach
23	chr4:7226800-7227200	Bivalent Enhancer	HepG2	liver
24	chr4:7226800-7227800	Enhancers	Liver	Liver
25	chr4:7227000-7227400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7227000-7227600	Enhancers	Brain Substantia Nigra	brain
27	chr4:7227000-7229600	Enhancers	Fetal Lung	lung
28	chr4:7227200-7227600	Enhancers	Fetal Stomach	stomach
29	chr4:7227200-7228000	Enhancers	Brain Germinal Matrix	brain
30	chr4:7227200-7228800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:7227400-7227600	Enhancers	Brain Angular Gyrus	brain
32	chr4:7227400-7229800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr4:7227400-7230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:7227600-7227800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr4:7227600-7227800	Enhancers	Fetal Muscle Leg	muscle
36	chr4:7227600-7227800	Enhancers	Fetal Thymus	thymus
37	chr4:7227600-7229200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr4:7227600-7232000	Weak transcription	Brain Angular Gyrus	brain
39	chr4:7227800-7228600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:7227800-7229600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:7227800-7229800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr4:7227800-7236600	Weak transcription	Fetal Thymus	thymus
43	chr4:7228000-7229600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:7228000-7229800	Enhancers	Lung	lung
45	chr4:7228200-7229000	Enhancers	Fetal Brain Male	brain
46	chr4:7228400-7228600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:7228400-7229000	Enhancers	Right Ventricle	heart
48	chr4:7228400-7229200	Enhancers	Fetal Brain Female	brain
49	chr4:7228600-7229400	Enhancers	Right Atrium	heart
50	chr4:7228600-7229600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links