Variant report

Variant	nsv878577
Chromosome Location	chr4:7757650-7771201
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7735719..7739049-chr4:7756418..7759523,3	MCF-7	breast:
2	chr4:7762684..7766410-chr4:7766886..7769453,3	MCF-7	breast:
3	chr4:7764728..7766346-chr4:7767900..7769988,2	K562	blood:
4	chr4:7764728..7766346-chr4:7767900..7769988,2	K562	blood:
5	chr4:6934398..6936821-chr4:7767820..7770493,2	K562	blood:
6	chr4:7756665..7758201-chr4:7770408..7772068,2	K562	blood:
7	chr4:7765704..7768382-chr4:7782855..7784797,2	K562	blood:
8	chr4:7767721..7770258-chr4:7770613..7772876,3	K562	blood:
9	chr4:7769826..7772813-chr4:7778014..7779534,2	K562	blood:
10	chr4:7762684..7766410-chr4:7766886..7769453,3	MCF-7	breast:
11	chr4:7767721..7770258-chr4:7770613..7772876,3	K562	blood:
12	chr4:7762573..7764644-chr4:7765812..7768936,3	K562	blood:
13	chr4:7763518..7765099-chr4:7771981..7774242,3	K562	blood:
14	chr4:7760394..7761920-chr4:7766669..7769385,2	K562	blood:
15	chr4:7763127..7763762-chr4:7803659..7804271,2	MCF-7	breast:
16	chr4:7768892..7770809-chr4:7771728..7774160,2	K562	blood:
17	chr4:7770365..7771286-chr4:7803447..7804040,2	MCF-7	breast:
18	chr4:7770767..7773381-chr4:7774826..7777247,2	K562	blood:
19	chr4:7756665..7758201-chr4:7770408..7772068,2	K562	blood:
20	chr4:7768621..7770539-chr4:7778171..7781125,2	K562	blood:
21	chr4:7768557..7769357-chr4:7988855..7989724,2	MCF-7	breast:
22	chr4:7763037..7763633-chr4:7803589..7804397,3	MCF-7	breast:
23	chr4:7762573..7764644-chr4:7765812..7768936,3	K562	blood:
24	chr4:7760394..7761920-chr4:7766669..7769385,2	K562	blood:
25	chr4:7733646..7736526-chr4:7759484..7762368,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AFAP1	hsa-miR-1	chr4:7762945-7762966

Variant related genes	Relation type
ENSG00000184985	chromatin interactions
ENSG00000196526	chromatin interactions

Extended variants
information (count: 943 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:943 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17382358	chr4:7757650-7757651	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544299585	chr4:7757678-7757679	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144103382	chr4:7757714-7757715	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533487760	chr4:7757715-7757716	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545607427	chr4:7757716-7757717	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145738428	chr4:7757728-7757729	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527890245	chr4:7757762-7757763	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560174320	chr4:7757764-7757765	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187824758	chr4:7757765-7757766	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111940633	chr4:7757790-7757791	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11936034	chr4:7757816-7757817	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528859134	chr4:7757823-7757824	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550340865	chr4:7757833-7757834	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569125572	chr4:7757864-7757865	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148543931	chr4:7757894-7757895	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557635007	chr4:7757903-7757904	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142190950	chr4:7757919-7757920	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79622888	chr4:7757927-7757928	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566292868	chr4:7757936-7757937	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192169661	chr4:7757948-7757949	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11382098	chr4:7757949-7757950	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555800380	chr4:7757952-7757953	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184426294	chr4:7757986-7757987	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188026916	chr4:7758020-7758021	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs17382379	chr4:7758039-7758040	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111482462	chr4:7758040-7758041	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs17466895	chr4:7758050-7758051	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540003980	chr4:7758064-7758065	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142778458	chr4:7758103-7758104	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs17382393	chr4:7758110-7758111	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572802925	chr4:7758121-7758122	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151043472	chr4:7758132-7758133	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543271881	chr4:7758138-7758139	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116577957	chr4:7758143-7758144	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529021238	chr4:7758156-7758157	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550550149	chr4:7758162-7758163	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116538559	chr4:7758182-7758183	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116091708	chr4:7758185-7758186	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551229978	chr4:7758207-7758208	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71612280	chr4:7758216-7758217	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs13112876	chr4:7758222-7758223	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13136430	chr4:7758225-7758226	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567737728	chr4:7758229-7758230	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13112894	chr4:7758244-7758245	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13118451	chr4:7758247-7758248	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537999893	chr4:7758252-7758253	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543827932	chr4:7758253-7758254	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs578041640	chr4:7758259-7758260	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62291975	chr4:7758262-7758263	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs62291976	chr4:7758265-7758266	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
2	chr4:7740600-7762400	Weak transcription	Pancreas	Pancrea
3	chr4:7741000-7757800	Weak transcription	Lung	lung
4	chr4:7746000-7758800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:7746200-7758600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:7746400-7757800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:7747200-7761800	Weak transcription	Colonic Mucosa	Colon
9	chr4:7749400-7760000	Weak transcription	HSMMtube	muscle
10	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
11	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:7749600-7759000	Weak transcription	Spleen	Spleen
13	chr4:7751400-7758000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:7751800-7761000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:7752000-7758200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:7752800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:7753000-7758400	Weak transcription	A549	lung
19	chr4:7753000-7760400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:7753000-7761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:7753200-7760200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:7753200-7761000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:7753600-7758600	Weak transcription	Fetal Intestine Large	intestine
24	chr4:7753600-7758800	Strong transcription	Fetal Stomach	stomach
25	chr4:7753800-7758600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:7754000-7762000	Weak transcription	NHLF	lung
27	chr4:7754200-7765400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:7754600-7757800	Weak transcription	HepG2	liver
29	chr4:7754600-7758000	Weak transcription	Gastric	stomach
30	chr4:7755000-7758800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:7755400-7763200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:7755800-7758800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:7756000-7758000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:7756000-7758200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:7756000-7761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:7756000-7766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:7756200-7762200	Weak transcription	NHEK	skin
39	chr4:7756400-7757800	Weak transcription	Fetal Intestine Small	intestine
40	chr4:7756400-7758600	Weak transcription	HSMM	muscle
41	chr4:7756400-7761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:7756400-7762200	Weak transcription	HMEC	breast
43	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:7756600-7764400	Weak transcription	Esophagus	oesophagus
45	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
46	chr4:7756800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:7757000-7758000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
49	chr4:7757200-7758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:7757200-7758600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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