Variant report

Variant	nsv1017068
Chromosome Location	chr4:187660972-187698928
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:52)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:187674672..187677224-chr4:187814028..187816446,2	K562	blood:
2	chr4:187672235..187672790-chr4:187684237..187684849,2	MCF-7	breast:
3	chr4:187659787..187662160-chr4:187677026..187681129,4	K562	blood:
4	chr4:187677314..187680274-chr4:187692627..187694588,2	K562	blood:
5	chr4:187659787..187662160-chr4:187677026..187681129,4	K562	blood:
6	chr4:187651874..187654017-chr4:187676972..187679507,2	K562	blood:
7	chr4:187659855..187661903-chr4:187675891..187680322,5	K562	blood:
8	chr4:187680022..187681982-chr4:187780547..187782088,2	K562	blood:
9	chr4:187643605..187645430-chr4:187682504..187684647,2	MCF-7	breast:
10	chr4:187660411..187663053-chr4:187667456..187670220,2	K562	blood:
11	chr4:187676723..187679624-chr4:187847276..187848972,2	K562	blood:
12	chr4:187675660..187683717-chr4:187759108..187768484,20	K562	blood:
13	chr4:187678824..187680603-chr4:187698968..187701372,2	K562	blood:
14	chr4:187681629..187684562-chr4:187726628..187729444,2	K562	blood:
15	chr4:187646464..187649410-chr4:187659209..187662089,3	MCF-7	breast:
16	chr4:187676658..187680719-chr4:187744045..187748911,5	K562	blood:
17	chr4:187647979..187649715-chr4:187674594..187677277,2	K562	blood:
18	chr4:187670176..187676753-chr4:187680368..187684248,9	K562	blood:
19	chr4:187676850..187678652-chr4:187820805..187822322,2	K562	blood:
20	chr4:187651958..187653758-chr4:187671404..187673599,2	K562	blood:
21	chr4:187678770..187680807-chr4:187839575..187841188,2	K562	blood:
22	chr4:187679224..187681324-chr4:187727859..187730858,2	K562	blood:
23	chr4:187678906..187683717-chr4:187759273..187763131,7	K562	blood:
24	chr4:187680022..187681982-chr4:187780547..187782844,3	K562	blood:
25	chr4:187660411..187663053-chr4:187667456..187670220,2	K562	blood:
26	chr4:187682902..187684633-chr4:187696851..187698406,2	K562	blood:
27	chr4:187656022..187659624-chr4:187671231..187674583,3	K562	blood:
28	chr4:187679251..187682200-chr4:187764092..187767213,3	K562	blood:
29	chr4:187645076..187647185-chr4:187684194..187686273,2	K562	blood:
30	chr4:187675476..187679042-chr4:187722913..187726254,3	K562	blood:
31	chr4:187675582..187678792-chr4:187770496..187774172,4	K562	blood:
32	chr4:187677651..187680626-chr4:187794059..187795987,2	K562	blood:
33	chr4:187670176..187676753-chr4:187680368..187684248,9	K562	blood:
34	chr4:187678132..187682608-chr4:187683692..187688008,6	K562	blood:
35	chr4:187643687..187646032-chr4:187678781..187680620,2	K562	blood:
36	chr4:187651958..187654545-chr4:187671276..187673599,3	K562	blood:
37	chr4:187645076..187647185-chr4:187684123..187686273,3	K562	blood:
38	chr4:187680951..187683409-chr4:187740602..187742752,2	K562	blood:
39	chr4:187677314..187680274-chr4:187692627..187694588,2	K562	blood:
40	chr4:187675288..187676998-chr4:187710830..187713799,2	K562	blood:
41	chr4:187672235..187672790-chr4:187684237..187684849,2	MCF-7	breast:
42	chr4:187645100..187646784-chr4:187678473..187680254,2	K562	blood:
43	chr4:187642980..187645032-chr4:187679412..187681073,2	K562	blood:
44	chr4:187682902..187684633-chr4:187696851..187698406,2	K562	blood:
45	chr4:187659855..187661903-chr4:187675891..187680322,5	K562	blood:
46	chr4:187673725..187675246-chr4:187709828..187712451,2	MCF-7	breast:
47	chr4:187676821..187679586-chr4:187746342..187750041,4	K562	blood:
48	chr4:187675497..187677160-chr4:187761262..187763373,2	K562	blood:
49	chr4:187675507..187677010-chr4:187784284..187786816,2	K562	blood:
50	chr4:187668197..187669912-chr4:187699243..187701064,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F11-10	chr4:187678612-187678669	NONHSAT099674
2	lnc-F11-10	chr4:187679921-187680284	NONHSAT099674

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions
ENSG00000249539	chromatin interactions

Extended variants
information (count: 1500 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1500 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141396615	chr4:187661023-187661024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567029242	chr4:187661044-187661045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539373217	chr4:187661045-187661046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552195178	chr4:187661075-187661076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536511395	chr4:187661094-187661095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376333036	chr4:187661095-187661096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143605092	chr4:187661103-187661104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145700773	chr4:187661108-187661109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554330669	chr4:187661180-187661181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143708378	chr4:187661201-187661202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533721009	chr4:187661225-187661226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553961447	chr4:187661250-187661251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148044842	chr4:187661334-187661335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545737714	chr4:187661344-187661345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574863730	chr4:187661364-187661365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373797141	chr4:187661371-187661372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562445672	chr4:187661394-187661395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140835507	chr4:187661413-187661414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546211863	chr4:187661490-187661491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544214939	chr4:187661555-187661556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562975639	chr4:187661558-187661559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145910862	chr4:187661568-187661569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530238446	chr4:187661577-187661578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540451687	chr4:187661605-187661606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184218135	chr4:187661665-187661666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138953329	chr4:187661687-187661688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200874429	chr4:187661710-187661711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115941500	chr4:187661712-187661713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188946584	chr4:187661713-187661714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368728597	chr4:187661720-187661721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181679533	chr4:187661747-187661748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568042147	chr4:187661771-187661772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76576619	chr4:187661783-187661784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373838338	chr4:187661852-187661853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142859380	chr4:187661880-187661881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186380532	chr4:187661884-187661885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546761862	chr4:187661908-187661909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114866481	chr4:187661909-187661910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7698262	chr4:187661911-187661912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
40	rs575949791	chr4:187661929-187661930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs327071	chr4:187661944-187661945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554980609	chr4:187661970-187661971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574826799	chr4:187661973-187661974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200334981	chr4:187661984-187661985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147362002	chr4:187661987-187661988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560388949	chr4:187662002-187662003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557360434	chr4:187662054-187662055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532714970	chr4:187662121-187662122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546437982	chr4:187662122-187662123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373129997	chr4:187662139-187662140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
XY gonadal dysgenesis	20685758	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187650600-187661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:187656400-187664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:187657400-187661600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:187657400-187661600	Weak transcription	NHDF-Ad	bronchial
5	chr4:187657800-187661600	Weak transcription	Osteobl	bone
6	chr4:187657800-187664400	Weak transcription	Stomach Mucosa	stomach
7	chr4:187658000-187661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:187659000-187664400	Weak transcription	HMEC	breast
9	chr4:187659600-187661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:187660000-187662200	Enhancers	Fetal Intestine Small	intestine
11	chr4:187660400-187662200	Enhancers	Fetal Intestine Large	intestine
12	chr4:187660400-187662200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:187660800-187661000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr4:187660800-187661800	Enhancers	Brain Germinal Matrix	brain
15	chr4:187660800-187661800	Enhancers	HepG2	liver
16	chr4:187660800-187661800	Enhancers	K562	blood
17	chr4:187660800-187662000	Enhancers	Duodenum Mucosa	Duodenum
18	chr4:187660800-187662000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr4:187661000-187661200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:187661000-187661400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:187661000-187661600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:187661000-187662000	Enhancers	Fetal Muscle Leg	muscle
23	chr4:187661400-187662000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:187661600-187662000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:187661600-187662000	Enhancers	Colonic Mucosa	Colon
26	chr4:187661600-187662000	Enhancers	Fetal Muscle Trunk	muscle
27	chr4:187661600-187662000	Enhancers	NHDF-Ad	bronchial
28	chr4:187661600-187662000	Enhancers	Osteobl	bone
29	chr4:187661800-187662600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:187661800-187663000	Weak transcription	HepG2	liver
31	chr4:187662000-187664400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187662000-187664400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:187662000-187670600	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:187662200-187664400	Weak transcription	Fetal Intestine Small	intestine
35	chr4:187662200-187664800	Weak transcription	Fetal Intestine Large	intestine
36	chr4:187662200-187667200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:187663000-187665000	Enhancers	HepG2	liver
38	chr4:187664400-187664600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:187664400-187664600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:187664400-187664800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:187664400-187664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:187664400-187665000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:187664400-187665000	Enhancers	Duodenum Mucosa	Duodenum
44	chr4:187664400-187665000	Enhancers	HMEC	breast
45	chr4:187664400-187665200	Enhancers	Stomach Mucosa	stomach
46	chr4:187664400-187665600	Enhancers	Fetal Intestine Small	intestine
47	chr4:187664600-187664800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:187664800-187665600	Enhancers	Fetal Intestine Large	intestine
49	chr4:187664800-187667600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:187664800-187670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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