Variant report

Variant	nsv878572
Chromosome Location	chr4:7693469-7730392
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7717845..7720426-chr4:7722093..7724959,2	K562	blood:
2	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
3	chr4:7717399..7719546-chr4:7720941..7723402,3	K562	blood:
4	chr4:7717399..7719546-chr4:7720941..7723402,3	K562	blood:
5	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
6	chr4:7704327..7706362-chr4:7708150..7710089,2	MCF-7	breast:
7	chr4:7724746..7727084-chr4:7966375..7967893,2	K562	blood:
8	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:
9	chr4:7556325..7556952-chr4:7720957..7721491,2	MCF-7	breast:
10	chr4:7716222..7719124-chr4:7719418..7721619,2	MCF-7	breast:
11	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
12	chr4:7720870..7722721-chr4:7731493..7735156,3	MCF-7	breast:
13	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
14	chr4:7705665..7707680-chr4:7712201..7713717,2	MCF-7	breast:
15	chr4:7694728..7697240-chr4:7698261..7700395,2	K562	blood:
16	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
17	chr4:7723652..7724312-chr4:7988958..7989693,2	MCF-7	breast:
18	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
19	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
20	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
21	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
22	chr4:7694728..7697240-chr4:7698261..7700395,2	K562	blood:
23	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:
24	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
25	chr4:7723319..7725071-chr4:7788895..7790676,2	K562	blood:
26	chr4:7464162..7464863-chr4:7721037..7721847,3	MCF-7	breast:
27	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
28	chr4:7696304..7698217-chr4:7701170..7702931,2	K562	blood:
29	chr4:7717845..7720426-chr4:7722093..7724959,2	K562	blood:
30	chr4:7696304..7698217-chr4:7701170..7702931,2	K562	blood:
31	chr4:7524845..7525381-chr4:7721481..7722229,2	K562	blood:
32	chr4:7716222..7719124-chr4:7719418..7721619,2	MCF-7	breast:
33	chr4:7729339..7732092-chr4:7733830..7736554,3	K562	blood:
34	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
35	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:
36	chr4:7704327..7706362-chr4:7708150..7710089,2	MCF-7	breast:
37	chr4:7193893..7194671-chr4:7721003..7721515,2	K562	blood:
38	chr4:7705665..7707680-chr4:7712201..7713717,2	MCF-7	breast:
39	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 2199 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2199 , 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	rs4689825	chr4:7693469-7693470	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527967347	chr4:7693476-7693477	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549731409	chr4:7693479-7693480	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192698277	chr4:7693481-7693482	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368573783	chr4:7693482-7693483	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149060412	chr4:7693496-7693497	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531783169	chr4:7693499-7693500	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572955729	chr4:7693517-7693518	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540179508	chr4:7693556-7693557	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184885927	chr4:7693603-7693604	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568816594	chr4:7693648-7693649	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571387995	chr4:7693651-7693652	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561993270	chr4:7693661-7693662	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532901888	chr4:7693663-7693664	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550955741	chr4:7693667-7693668	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538515024	chr4:7693669-7693670	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566161578	chr4:7693671-7693672	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533822840	chr4:7693674-7693675	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555341402	chr4:7693678-7693679	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115169679	chr4:7693713-7693714	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143026111	chr4:7693725-7693726	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556333474	chr4:7693752-7693753	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112060503	chr4:7693753-7693754	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578138334	chr4:7693757-7693758	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545566328	chr4:7693758-7693759	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554193104	chr4:7693760-7693761	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57612829	chr4:7693767-7693768	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543064349	chr4:7693800-7693801	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561374442	chr4:7693806-7693807	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375627344	chr4:7693817-7693818	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543643101	chr4:7693848-7693849	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565518895	chr4:7693901-7693902	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532838681	chr4:7693921-7693922	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115875159	chr4:7693973-7693974	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370039895	chr4:7693986-7693987	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566247339	chr4:7694020-7694021	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527267185	chr4:7694043-7694044	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114383336	chr4:7694132-7694133	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567409161	chr4:7694186-7694187	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538181876	chr4:7694188-7694189	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190464095	chr4:7694197-7694198	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139367624	chr4:7694213-7694214	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372417612	chr4:7694220-7694221	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538851910	chr4:7694288-7694289	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554279090	chr4:7694340-7694341	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180861977	chr4:7694341-7694342	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79774576	chr4:7694400-7694401	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554986740	chr4:7694404-7694405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541814060	chr4:7694411-7694412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185961399	chr4:7694442-7694443	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:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7665200-7694800	Weak transcription	Liver	Liver
2	chr4:7679200-7695000	Weak transcription	Fetal Brain Male	brain
3	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
4	chr4:7683200-7695200	Weak transcription	Fetal Brain Female	brain
5	chr4:7685600-7707000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:7686000-7698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:7686200-7721000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:7686400-7693600	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:7687000-7698000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:7688200-7695600	Strong transcription	Fetal Stomach	stomach
11	chr4:7688600-7696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7691600-7705400	Weak transcription	Brain Substantia Nigra	brain
13	chr4:7691600-7716200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:7692400-7693800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:7692800-7694400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:7692800-7694400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr4:7693000-7698200	Weak transcription	Gastric	stomach
18	chr4:7693200-7694400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:7693200-7699400	Weak transcription	Spleen	Spleen
20	chr4:7693600-7694000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr4:7693600-7694000	Enhancers	Brain Hippocampus Middle	brain
22	chr4:7693800-7694000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr4:7693800-7694200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:7694000-7712600	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:7694200-7712600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:7694400-7699000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:7695000-7696800	Enhancers	Fetal Brain Male	brain
28	chr4:7695200-7695400	Enhancers	Fetal Brain Female	brain
29	chr4:7695400-7695800	Weak transcription	Fetal Brain Female	brain
30	chr4:7695600-7698000	Weak transcription	Fetal Stomach	stomach
31	chr4:7695800-7696800	Enhancers	Fetal Brain Female	brain
32	chr4:7696200-7696800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:7696800-7698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:7696800-7699400	Weak transcription	Fetal Brain Male	brain
35	chr4:7698000-7698200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr4:7698000-7698800	Strong transcription	Fetal Stomach	stomach
37	chr4:7698000-7699400	Strong transcription	Brain Cingulate Gyrus	brain
38	chr4:7698200-7698400	Enhancers	Gastric	stomach
39	chr4:7698200-7700800	Enhancers	Fetal Muscle Leg	muscle
40	chr4:7698200-7704800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr4:7698400-7699000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:7698800-7699800	Bivalent Enhancer	Fetal Stomach	stomach
43	chr4:7698800-7699800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr4:7699000-7699200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:7699000-7700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:7699000-7705000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:7699200-7700200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr4:7699400-7699600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr4:7699400-7699800	Enhancers	Fetal Brain Male	brain
50	chr4:7699400-7700000	Enhancers	Stomach Smooth Muscle	stomach

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