Variant report

Variant	nsv537440
Chromosome Location	chr4:187663010-187701918
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:51)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:187676658..187680719-chr4:187744045..187748911,5	K562	blood:
2	chr4:187675497..187677160-chr4:187761262..187763373,2	K562	blood:
3	chr4:187651958..187654545-chr4:187671276..187673599,3	K562	blood:
4	chr4:187651958..187653758-chr4:187671404..187673599,2	K562	blood:
5	chr4:187677651..187680626-chr4:187794059..187795987,2	K562	blood:
6	chr4:187680022..187681982-chr4:187780547..187782088,2	K562	blood:
7	chr4:187668197..187669912-chr4:187699243..187701064,2	MCF-7	breast:
8	chr4:187673725..187675246-chr4:187709828..187712451,2	MCF-7	breast:
9	chr4:187676821..187679586-chr4:187746342..187750041,4	K562	blood:
10	chr4:187643605..187645430-chr4:187682504..187684647,2	MCF-7	breast:
11	chr4:187645076..187647185-chr4:187684123..187686273,3	K562	blood:
12	chr4:187670176..187676753-chr4:187680368..187684248,9	K562	blood:
13	chr4:187672235..187672790-chr4:187684237..187684849,2	MCF-7	breast:
14	chr4:187670176..187676753-chr4:187680368..187684248,9	K562	blood:
15	chr4:187680951..187683409-chr4:187740602..187742752,2	K562	blood:
16	chr4:187682902..187684633-chr4:187696851..187698406,2	K562	blood:
17	chr4:187679224..187681324-chr4:187727859..187730858,2	K562	blood:
18	chr4:187680022..187681982-chr4:187780547..187782844,3	K562	blood:
19	chr4:187681629..187684562-chr4:187726628..187729444,2	K562	blood:
20	chr4:187675582..187678792-chr4:187770496..187774172,4	K562	blood:
21	chr4:187679251..187682200-chr4:187764092..187767213,3	K562	blood:
22	chr4:187676723..187679624-chr4:187847276..187848972,2	K562	blood:
23	chr4:187678824..187680603-chr4:187698968..187701372,2	K562	blood:
24	chr4:187675507..187677010-chr4:187784284..187786816,2	K562	blood:
25	chr4:187651874..187654017-chr4:187676972..187679507,2	K562	blood:
26	chr4:187678824..187680603-chr4:187698968..187701372,2	K562	blood:
27	chr4:187678906..187683717-chr4:187759273..187763131,7	K562	blood:
28	chr4:187678770..187680807-chr4:187839575..187841188,2	K562	blood:
29	chr4:187677314..187680274-chr4:187692627..187694588,2	K562	blood:
30	chr4:187660411..187663053-chr4:187667456..187670220,2	K562	blood:
31	chr4:187678132..187682608-chr4:187683692..187688008,6	K562	blood:
32	chr4:187677314..187680274-chr4:187692627..187694588,2	K562	blood:
33	chr4:187659855..187661903-chr4:187675891..187680322,5	K562	blood:
34	chr4:187675476..187679042-chr4:187722913..187726254,3	K562	blood:
35	chr4:187645076..187647185-chr4:187684194..187686273,2	K562	blood:
36	chr4:187647979..187649715-chr4:187674594..187677277,2	K562	blood:
37	chr4:187643687..187646032-chr4:187678781..187680620,2	K562	blood:
38	chr4:187660411..187663053-chr4:187667456..187670220,2	K562	blood:
39	chr4:187676850..187678652-chr4:187820805..187822322,2	K562	blood:
40	chr4:187668197..187669912-chr4:187699243..187701064,2	MCF-7	breast:
41	chr4:187642980..187645032-chr4:187679412..187681073,2	K562	blood:
42	chr4:187645100..187646784-chr4:187678473..187680254,2	K562	blood:
43	chr4:187672235..187672790-chr4:187684237..187684849,2	MCF-7	breast:
44	chr4:187682902..187684633-chr4:187696851..187698406,2	K562	blood:
45	chr4:187674672..187677224-chr4:187814028..187816446,2	K562	blood:
46	chr4:187656022..187659624-chr4:187671231..187674583,3	K562	blood:
47	chr4:187659787..187662160-chr4:187677026..187681129,4	K562	blood:
48	chr4:187675288..187676998-chr4:187710830..187713799,2	K562	blood:
49	chr4:187577754..187579766-chr4:187673897..187676271,2	K562	blood:
50	chr4:187678132..187682608-chr4:187683692..187688008,6	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions
ENSG00000249539	chromatin interactions

Extended variants
information (count: 1524 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1524 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569559656	chr4:187663026-187663027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535295791	chr4:187663055-187663056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549221280	chr4:187663098-187663099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77248231	chr4:187663128-187663129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187731126	chr4:187663176-187663177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554236234	chr4:187663177-187663178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10014240	chr4:187663203-187663204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539979527	chr4:187663205-187663206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58803263	chr4:187663214-187663215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541941220	chr4:187663238-187663239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542073195	chr4:187663278-187663279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144840181	chr4:187663281-187663282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563387280	chr4:187663290-187663291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193300753	chr4:187663312-187663313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183905447	chr4:187663321-187663322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187724459	chr4:187663324-187663325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146111461	chr4:187663330-187663331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554325440	chr4:187663396-187663397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370820170	chr4:187663409-187663410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs57387106	chr4:187663435-187663436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192391400	chr4:187663535-187663536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549417784	chr4:187663544-187663545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184064730	chr4:187663545-187663546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112316246	chr4:187663586-187663587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548930802	chr4:187663605-187663606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188797360	chr4:187663619-187663620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371349777	chr4:187663627-187663628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59717258	chr4:187663688-187663689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534645900	chr4:187663690-187663691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73876312	chr4:187663736-187663737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570906136	chr4:187663801-187663802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192107536	chr4:187663819-187663820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551709381	chr4:187663835-187663836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570204989	chr4:187663878-187663879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556658967	chr4:187663927-187663928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79693985	chr4:187663942-187663943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536025534	chr4:187663948-187663949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1040069	chr4:187664035-187664036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368188854	chr4:187664060-187664061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184704634	chr4:187664066-187664067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541369744	chr4:187664084-187664085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372147280	chr4:187664111-187664112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189991192	chr4:187664120-187664121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543031775	chr4:187664180-187664181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560176532	chr4:187664214-187664215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79671478	chr4:187664229-187664230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7690341	chr4:187664257-187664258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7690359	chr4:187664271-187664272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs72716297	chr4:187664337-187664338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374203436	chr4:187664371-187664372	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:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187656400-187664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187657800-187664400	Weak transcription	Stomach Mucosa	stomach
3	chr4:187659000-187664400	Weak transcription	HMEC	breast
4	chr4:187662000-187664400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:187662000-187664400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:187662000-187670600	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:187662200-187664400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:187662200-187664800	Weak transcription	Fetal Intestine Large	intestine
9	chr4:187662200-187667200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:187663000-187665000	Enhancers	HepG2	liver
11	chr4:187664400-187664600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:187664400-187664600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:187664400-187664800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:187664400-187664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:187664400-187665000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:187664400-187665000	Enhancers	Duodenum Mucosa	Duodenum
17	chr4:187664400-187665000	Enhancers	HMEC	breast
18	chr4:187664400-187665200	Enhancers	Stomach Mucosa	stomach
19	chr4:187664400-187665600	Enhancers	Fetal Intestine Small	intestine
20	chr4:187664600-187664800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:187664800-187665600	Enhancers	Fetal Intestine Large	intestine
22	chr4:187664800-187667600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:187664800-187670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:187665000-187667000	Weak transcription	HepG2	liver
25	chr4:187665000-187670800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:187665600-187670600	Weak transcription	Fetal Intestine Large	intestine
27	chr4:187665600-187670600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:187667000-187668000	Enhancers	HepG2	liver
29	chr4:187667200-187667400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:187667600-187668000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:187668000-187670000	Weak transcription	HepG2	liver
32	chr4:187668000-187670800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:187670000-187672000	Enhancers	HepG2	liver
34	chr4:187670600-187671000	Enhancers	Fetal Muscle Leg	muscle
35	chr4:187670600-187671400	Enhancers	Fetal Intestine Large	intestine
36	chr4:187670600-187671400	Enhancers	Fetal Intestine Small	intestine
37	chr4:187670600-187671400	Enhancers	HSMMtube	muscle
38	chr4:187670800-187671000	Enhancers	Adipose Nuclei	Adipose
39	chr4:187670800-187671000	Enhancers	Esophagus	oesophagus
40	chr4:187670800-187671200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:187670800-187671200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr4:187670800-187671400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:187670800-187671400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:187670800-187671400	Enhancers	Duodenum Mucosa	Duodenum
45	chr4:187671000-187671400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr4:187671200-187676200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:187671400-187675200	Weak transcription	Fetal Intestine Small	intestine
48	chr4:187671400-187675400	Weak transcription	Fetal Intestine Large	intestine
49	chr4:187671400-187676200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:187671400-187676200	Weak transcription	Duodenum Mucosa	Duodenum

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