Variant report

Variant	nsv432564
Chromosome Location	chr4:7683417-7719249
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2026 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2026 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7697323	chr4:7683417-7683418	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568980308	chr4:7683420-7683421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549426234	chr4:7683454-7683455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112268627	chr4:7683463-7683464	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551445657	chr4:7683476-7683477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549604523	chr4:7683520-7683521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146182924	chr4:7683526-7683527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534219856	chr4:7683530-7683531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571129007	chr4:7683538-7683539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74869101	chr4:7683574-7683575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73794377	chr4:7683599-7683600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144171738	chr4:7683614-7683615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs10015878	chr4:7683660-7683661	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575373459	chr4:7683680-7683681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565628876	chr4:7683691-7683692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150558951	chr4:7683719-7683720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs376540670	chr4:7683750-7683751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139585522	chr4:7683784-7683785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149725090	chr4:7683794-7683795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375961088	chr4:7683813-7683814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561984774	chr4:7683904-7683905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs181346800	chr4:7683905-7683906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76836894	chr4:7683943-7683944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562351518	chr4:7683944-7683945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533242708	chr4:7683969-7683970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs28420857	chr4:7684013-7684014	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573908386	chr4:7684031-7684032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183944035	chr4:7684061-7684062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10006013	chr4:7684069-7684070	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188377252	chr4:7684125-7684126	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs145229427	chr4:7684129-7684130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377261762	chr4:7684136-7684137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369860486	chr4:7684138-7684139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112536187	chr4:7684222-7684223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538550874	chr4:7684247-7684248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2285786	chr4:7684248-7684249	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142444195	chr4:7684273-7684274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536561797	chr4:7684294-7684295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557870549	chr4:7684317-7684318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377585977	chr4:7684321-7684322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540195591	chr4:7684327-7684328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555069941	chr4:7684342-7684343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573556877	chr4:7684347-7684348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544137833	chr4:7684349-7684350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181554327	chr4:7684379-7684380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532987720	chr4:7684405-7684406	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545155682	chr4:7684418-7684419	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560598314	chr4:7684439-7684440	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369951951	chr4:7684440-7684441	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371599341	chr4:7684498-7684499	ZNF genes & repeats Weak transcription Strong 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:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7660600-7684400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:7661600-7684200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:7665200-7694800	Weak transcription	Liver	Liver
4	chr4:7669800-7684200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:7670400-7684400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7673600-7684000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:7677200-7684400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:7679200-7695000	Weak transcription	Fetal Brain Male	brain
9	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
10	chr4:7681000-7686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:7681200-7685400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:7682200-7684600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:7683000-7686000	ZNF genes & repeats	Fetal Stomach	stomach
14	chr4:7683200-7691600	Weak transcription	Fetal Kidney	kidney
15	chr4:7683200-7695200	Weak transcription	Fetal Brain Female	brain
16	chr4:7684000-7686000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
17	chr4:7684000-7686200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr4:7684000-7686400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
19	chr4:7684200-7685000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
20	chr4:7684200-7685800	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr4:7684200-7686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:7684200-7686000	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr4:7684200-7686000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr4:7684400-7685200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr4:7684400-7685600	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr4:7684400-7686200	Strong transcription	Brain Angular Gyrus	brain
27	chr4:7684600-7685400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:7684600-7685800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr4:7684600-7686000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:7684600-7686000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr4:7684800-7685600	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr4:7685200-7686000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:7685200-7687000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr4:7685400-7685600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr4:7685600-7686000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:7685600-7686400	Strong transcription	Brain Hippocampus Middle	brain
37	chr4:7685600-7686800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:7685600-7707000	Weak transcription	Fetal Intestine Small	intestine
39	chr4:7685800-7686600	Strong transcription	Brain Substantia Nigra	brain
40	chr4:7685800-7692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:7686000-7686200	Strong transcription	Brain Anterior Caudate	brain
42	chr4:7686000-7686200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr4:7686000-7686600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:7686000-7687000	Strong transcription	Fetal Stomach	stomach
45	chr4:7686000-7690000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:7686000-7698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:7686200-7686400	Enhancers	Esophagus	oesophagus
48	chr4:7686200-7691000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:7686200-7691200	Weak transcription	Brain Angular Gyrus	brain
50	chr4:7686200-7721000	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links