Variant report

Variant	nsv593567
Chromosome Location	chr4:7256620-7297506
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:32)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:
2	chr4:7212738..7214685-chr4:7282671..7285326,2	MCF-7	breast:
3	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:
4	chr4:7282808..7284476-chr4:7287220..7289819,2	K562	blood:
5	chr4:7288760..7290651-chr4:7292846..7295423,2	MCF-7	breast:
6	chr4:7274325..7276110-chr4:7276170..7278835,2	MCF-7	breast:
7	chr4:7277788..7279515-chr4:7289410..7291563,2	MCF-7	breast:
8	chr4:7273206..7276167-chr4:7278106..7279736,2	K562	blood:
9	chr4:7282916..7284476-chr4:7287220..7289745,2	K562	blood:
10	chr4:7281415..7283268-chr4:7284765..7287667,2	MCF-7	breast:
11	chr4:7282916..7284476-chr4:7287220..7289745,2	K562	blood:
12	chr4:7193728..7194793-chr4:7297053..7298951,15	MCF-7	breast:
13	chr4:7195671..7196829-chr4:7297061..7298292,4	MCF-7	breast:
14	chr4:7212723..7215466-chr4:7270786..7273618,2	MCF-7	breast:
15	chr4:7192934..7196110-chr4:7296657..7299976,3	MCF-7	breast:
16	chr4:7273206..7276167-chr4:7278106..7279736,2	K562	blood:
17	chr4:7194014..7196749-chr4:7291748..7294581,2	MCF-7	breast:
18	chr4:7277788..7279515-chr4:7289410..7291563,2	MCF-7	breast:
19	chr4:7214030..7216634-chr4:7290499..7293149,2	MCF-7	breast:
20	chr4:7282808..7284476-chr4:7287220..7289819,2	K562	blood:
21	chr4:7274325..7276110-chr4:7276170..7278835,2	MCF-7	breast:
22	chr4:7195636..7196730-chr4:7297372..7298445,9	MCF-7	breast:
23	chr4:7213661..7215472-chr4:7265582..7267704,2	MCF-7	breast:
24	chr4:7153324..7154166-chr4:7297397..7298037,2	MCF-7	breast:
25	chr4:7193590..7194707-chr4:7297338..7298352,5	MCF-7	breast:
26	chr4:7278740..7281042-chr4:7284986..7286499,2	K562	blood:
27	chr4:7278740..7281042-chr4:7284986..7286499,2	K562	blood:
28	chr4:7288760..7290651-chr4:7292846..7295423,2	MCF-7	breast:
29	chr4:7221313..7223378-chr4:7286434..7289285,2	MCF-7	breast:
30	chr4:7213111..7215832-chr4:7278141..7280454,2	MCF-7	breast:
31	chr4:7281415..7283268-chr4:7284765..7287667,2	MCF-7	breast:
32	chr4:7200738..7202710-chr4:7296032..7298626,2	MCF-7	breast:

(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

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 2060 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2060 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9291133	chr4:7256620-7256621	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6843561	chr4:7256658-7256659	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138986630	chr4:7256662-7256663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186956947	chr4:7256670-7256671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143016544	chr4:7256714-7256715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576804996	chr4:7256732-7256733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115609305	chr4:7256735-7256736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571297854	chr4:7256742-7256743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147045013	chr4:7256770-7256771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529778913	chr4:7256781-7256782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553715771	chr4:7256789-7256790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7436907	chr4:7256842-7256843	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138315563	chr4:7256852-7256853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530729518	chr4:7256886-7256887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112860127	chr4:7256887-7256888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570707524	chr4:7256888-7256889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528492708	chr4:7256897-7256898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546559846	chr4:7256908-7256909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536418426	chr4:7256916-7256917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149652635	chr4:7256929-7256930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543534177	chr4:7256972-7256973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551160858	chr4:7256973-7256974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76723651	chr4:7256976-7256977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78049473	chr4:7256984-7256985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6446588	chr4:7256988-7256989	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs76941564	chr4:7257048-7257049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191811714	chr4:7257078-7257079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78910918	chr4:7257081-7257082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144331528	chr4:7257097-7257098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148772288	chr4:7257143-7257144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574587901	chr4:7257152-7257153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7686843	chr4:7257160-7257161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs200310259	chr4:7257187-7257188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111555083	chr4:7257192-7257193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141585287	chr4:7257193-7257194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545954926	chr4:7257198-7257199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564243116	chr4:7257233-7257234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146220763	chr4:7257247-7257248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546600747	chr4:7257254-7257255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73799423	chr4:7257277-7257278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111404387	chr4:7257295-7257296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550836527	chr4:7257296-7257297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569318941	chr4:7257306-7257307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143982371	chr4:7257321-7257322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372353990	chr4:7257347-7257348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376557870	chr4:7257366-7257367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578060937	chr4:7257377-7257378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567179868	chr4:7257384-7257385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182272590	chr4:7257406-7257407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534445803	chr4:7257434-7257435	Enhancers Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7252600-7261800	Weak transcription	Fetal Brain Female	brain
2	chr4:7252600-7262400	Weak transcription	Fetal Brain Male	brain
3	chr4:7252800-7256800	Weak transcription	HSMMtube	muscle
4	chr4:7252800-7257800	Weak transcription	Ovary	ovary
5	chr4:7253000-7257200	Weak transcription	Psoas Muscle	Psoas
6	chr4:7253000-7265400	Weak transcription	Brain Substantia Nigra	brain
7	chr4:7253400-7258000	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:7253600-7258000	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:7253600-7258200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:7253600-7258400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:7253800-7258200	Weak transcription	Brain Angular Gyrus	brain
12	chr4:7254000-7256800	Weak transcription	Esophagus	oesophagus
13	chr4:7254000-7259200	Weak transcription	Spleen	Spleen
14	chr4:7254200-7258200	Enhancers	Fetal Heart	heart
15	chr4:7254600-7258200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:7254800-7258200	Weak transcription	Fetal Lung	lung
17	chr4:7255200-7262800	Weak transcription	Brain Germinal Matrix	brain
18	chr4:7255400-7257400	Enhancers	GM12878-XiMat	blood
19	chr4:7255400-7259000	Enhancers	HSMM	muscle
20	chr4:7255400-7259800	Enhancers	Fetal Muscle Leg	muscle
21	chr4:7255600-7257800	Weak transcription	Right Atrium	heart
22	chr4:7255600-7258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7256000-7257000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:7256200-7257000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:7256200-7257000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:7256200-7257600	Enhancers	Fetal Muscle Trunk	muscle
27	chr4:7256400-7257000	Enhancers	Fetal Thymus	thymus
28	chr4:7256400-7257400	Enhancers	Brain Anterior Caudate	brain
29	chr4:7256400-7259800	Enhancers	Left Ventricle	heart
30	chr4:7256600-7257000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:7256600-7257000	Enhancers	Lung	lung
32	chr4:7256600-7257200	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:7256600-7258400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:7256600-7258600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:7256600-7259600	Enhancers	Right Ventricle	heart
36	chr4:7256600-7259800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:7256800-7257400	Enhancers	Esophagus	oesophagus
38	chr4:7256800-7259000	Enhancers	HSMMtube	muscle
39	chr4:7257000-7257800	Weak transcription	Lung	lung
40	chr4:7257000-7258200	Enhancers	HMEC	breast
41	chr4:7257000-7258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:7257000-7259200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:7257200-7257600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:7257200-7258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:7257200-7259800	Enhancers	Psoas Muscle	Psoas
46	chr4:7257400-7261200	Weak transcription	Esophagus	oesophagus
47	chr4:7257400-7271000	Weak transcription	Brain Anterior Caudate	brain
48	chr4:7257600-7258000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr4:7257600-7258400	Enhancers	Stomach Smooth Muscle	stomach
50	chr4:7257800-7258600	Enhancers	Right Atrium	heart

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