Variant report

Variant	nsv432559
Chromosome Location	chr4:7680536-7719249
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7716222..7719124-chr4:7719418..7721619,2	MCF-7	breast:
2	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:
3	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
4	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:
5	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
6	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
7	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
8	chr4:7694728..7697240-chr4:7698261..7700395,2	K562	blood:
9	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
10	chr4:7717845..7720426-chr4:7722093..7724959,2	K562	blood:
11	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
12	chr4:7696304..7698217-chr4:7701170..7702931,2	K562	blood:
13	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:
14	chr4:7673147..7675645-chr4:7680129..7682377,2	K562	blood:
15	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
16	chr4:7669139..7671615-chr4:7679846..7682094,2	MCF-7	breast:
17	chr4:7704327..7706362-chr4:7708150..7710089,2	MCF-7	breast:
18	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
19	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:
20	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
21	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
22	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
23	chr4:7694728..7697240-chr4:7698261..7700395,2	K562	blood:
24	chr4:7696304..7698217-chr4:7701170..7702931,2	K562	blood:
25	chr4:7705665..7707680-chr4:7712201..7713717,2	MCF-7	breast:
26	chr4:7717399..7719546-chr4:7720941..7723402,3	K562	blood:
27	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
28	chr4:7705665..7707680-chr4:7712201..7713717,2	MCF-7	breast:
29	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
30	chr4:7704327..7706362-chr4:7708150..7710089,2	MCF-7	breast:

No data

Extended variants
information (count: 2173 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2173 , 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	rs11729581	chr4:7680536-7680537	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566134795	chr4:7680574-7680575	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs566119139	chr4:7680576-7680577	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs536884543	chr4:7680581-7680582	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs572865424	chr4:7680582-7680583	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs181144758	chr4:7680621-7680622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs567323828	chr4:7680630-7680631	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs368942281	chr4:7680646-7680647	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs185981694	chr4:7680702-7680703	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs555697202	chr4:7680710-7680711	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs145038846	chr4:7680740-7680741	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs148953065	chr4:7680777-7680778	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs190483102	chr4:7680806-7680807	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs554072269	chr4:7680808-7680809	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs143729991	chr4:7680825-7680826	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs542779257	chr4:7680830-7680831	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs367555347	chr4:7680834-7680835	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs546455648	chr4:7680839-7680840	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs531791980	chr4:7680841-7680842	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs199816362	chr4:7680854-7680855	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs76161727	chr4:7680857-7680858	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs144614159	chr4:7680863-7680864	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs138081095	chr4:7680865-7680866	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs56287349	chr4:7680872-7680873	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs140921355	chr4:7680877-7680878	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs567057791	chr4:7680899-7680900	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs532578558	chr4:7680919-7680920	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs116312666	chr4:7680921-7680922	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs183423320	chr4:7680923-7680924	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs10013239	chr4:7680962-7680963	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs548714714	chr4:7680985-7680986	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs187428148	chr4:7680995-7680996	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs146396838	chr4:7681010-7681011	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs191786228	chr4:7681012-7681013	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs556106761	chr4:7681036-7681037	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs28438707	chr4:7681037-7681038	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538214530	chr4:7681086-7681087	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs553510526	chr4:7681097-7681098	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs572257302	chr4:7681113-7681114	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs182927964	chr4:7681115-7681116	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs542568843	chr4:7681186-7681187	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs111243456	chr4:7681209-7681210	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551142437	chr4:7681218-7681219	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111990862	chr4:7681222-7681223	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563219559	chr4:7681241-7681242	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543912247	chr4:7681261-7681262	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28399822	chr4:7681318-7681319	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532668413	chr4:7681339-7681340	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541386363	chr4:7681341-7681342	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34048103	chr4:7681373-7681374	Bivalent Enhancer 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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7659000-7680800	Weak transcription	Ovary	ovary
2	chr4:7660600-7684400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:7661600-7684200	Weak transcription	Brain Substantia Nigra	brain
4	chr4:7665200-7694800	Weak transcription	Liver	Liver
5	chr4:7669800-7684200	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7670400-7684400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:7673600-7684000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:7677200-7682200	Weak transcription	HepG2	liver
9	chr4:7677200-7684400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:7677600-7682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:7677600-7682400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:7678200-7681000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:7678600-7680800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7678600-7681400	Enhancers	HMEC	breast
15	chr4:7679000-7680600	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:7679200-7695000	Weak transcription	Fetal Brain Male	brain
17	chr4:7679800-7681200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
19	chr4:7680400-7683000	Weak transcription	Fetal Stomach	stomach
20	chr4:7680600-7682200	Enhancers	Fetal Muscle Leg	muscle
21	chr4:7680800-7681400	Enhancers	Ovary	ovary
22	chr4:7681000-7681200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:7681000-7686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:7681200-7681400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:7681200-7681400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:7681200-7685400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:7681600-7681800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr4:7682200-7683000	Enhancers	HepG2	liver
29	chr4:7682200-7684600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:7682600-7682800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:7683000-7686000	ZNF genes & repeats	Fetal Stomach	stomach
32	chr4:7683200-7691600	Weak transcription	Fetal Kidney	kidney
33	chr4:7683200-7695200	Weak transcription	Fetal Brain Female	brain
34	chr4:7684000-7686000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr4:7684000-7686200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
36	chr4:7684000-7686400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr4:7684200-7685000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
38	chr4:7684200-7685800	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr4:7684200-7686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:7684200-7686000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr4:7684200-7686000	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr4:7684400-7685200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr4:7684400-7685600	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr4:7684400-7686200	Strong transcription	Brain Angular Gyrus	brain
45	chr4:7684600-7685400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:7684600-7685800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr4:7684600-7686000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:7684600-7686000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr4:7684800-7685600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr4:7685200-7686000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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