Variant report

Variant	esv3335862
Chromosome Location	chr4:187679758-187722391
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:43)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187718306..187722830-chr4:187723240..187727445,8	K562	blood:
2	chr4:187673725..187675246-chr4:187709828..187712451,2	MCF-7	breast:
3	chr4:187643687..187646032-chr4:187678781..187680620,2	K562	blood:
4	chr4:187679224..187681324-chr4:187727859..187730858,2	K562	blood:
5	chr4:187678132..187682608-chr4:187683692..187688008,6	K562	blood:
6	chr4:187677651..187680626-chr4:187794059..187795987,2	K562	blood:
7	chr4:187670176..187676753-chr4:187680368..187684248,9	K562	blood:
8	chr4:187672235..187672790-chr4:187684237..187684849,2	MCF-7	breast:
9	chr4:187643605..187645430-chr4:187682504..187684647,2	MCF-7	breast:
10	chr4:187717769..187721707-chr4:187722275..187727445,6	K562	blood:
11	chr4:187675288..187676998-chr4:187710830..187713799,2	K562	blood:
12	chr4:187679251..187682200-chr4:187764092..187767213,3	K562	blood:
13	chr4:187712775..187715204-chr4:187721861..187723800,2	MCF-7	breast:
14	chr4:187677314..187680274-chr4:187692627..187694588,2	K562	blood:
15	chr4:187704048..187707198-chr4:187707380..187710595,3	K562	blood:
16	chr4:187678824..187680603-chr4:187698968..187701372,2	K562	blood:
17	chr4:187648173..187650328-chr4:187707410..187709180,2	MCF-7	breast:
18	chr4:187702948..187705032-chr4:187853740..187855963,2	K562	blood:
19	chr4:187645076..187647185-chr4:187684194..187686273,2	K562	blood:
20	chr4:187668197..187669912-chr4:187699243..187701064,2	MCF-7	breast:
21	chr4:187659787..187662160-chr4:187677026..187681129,4	K562	blood:
22	chr4:187680022..187681982-chr4:187780547..187782088,2	K562	blood:
23	chr4:187677314..187680274-chr4:187692627..187694588,2	K562	blood:
24	chr4:187720294..187722380-chr4:187728478..187730946,2	K562	blood:
25	chr4:187717769..187721707-chr4:187722275..187727445,6	K562	blood:
26	chr4:187680951..187683409-chr4:187740602..187742752,2	K562	blood:
27	chr4:187642980..187645032-chr4:187679412..187681073,2	K562	blood:
28	chr4:187678132..187682608-chr4:187683692..187688008,6	K562	blood:
29	chr4:187682902..187684633-chr4:187696851..187698406,2	K562	blood:
30	chr4:187678906..187683717-chr4:187759273..187763131,7	K562	blood:
31	chr4:187721104..187723680-chr4:187820349..187822022,2	K562	blood:
32	chr4:187680022..187681982-chr4:187780547..187782844,3	K562	blood:
33	chr4:187704048..187707198-chr4:187707380..187710595,3	K562	blood:
34	chr4:187682902..187684633-chr4:187696851..187698406,2	K562	blood:
35	chr4:187659855..187661903-chr4:187675891..187680322,5	K562	blood:
36	chr4:187675660..187683717-chr4:187759108..187768484,20	K562	blood:
37	chr4:187645100..187646784-chr4:187678473..187680254,2	K562	blood:
38	chr4:187676658..187680719-chr4:187744045..187748911,5	K562	blood:
39	chr4:187645076..187647185-chr4:187684123..187686273,3	K562	blood:
40	chr4:187678824..187680603-chr4:187698968..187701372,2	K562	blood:
41	chr4:187678770..187680807-chr4:187839575..187841188,2	K562	blood:
42	chr4:187712775..187715204-chr4:187721861..187723800,2	MCF-7	breast:
43	chr4:187681629..187684562-chr4:187726628..187729444,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions
ENSG00000249539	chromatin interactions

Extended variants
information (count: 1670 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1670 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150114143	chr4:187679775-187679776	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138296294	chr4:187679776-187679777	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187297051	chr4:187679820-187679821	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149191718	chr4:187679828-187679829	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538843406	chr4:187679855-187679856	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552046456	chr4:187679953-187679954	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs189279969	chr4:187680110-187680111	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs568814904	chr4:187680112-187680113	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs180756911	chr4:187680178-187680179	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs544567371	chr4:187680211-187680212	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs537794402	chr4:187680221-187680222	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs554433458	chr4:187680228-187680229	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs3733416	chr4:187680241-187680242	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs569884396	chr4:187680258-187680259	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs536229412	chr4:187680273-187680274	Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs553451933	chr4:187680295-187680296	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs3733417	chr4:187680329-187680330	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542339530	chr4:187680352-187680353	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565286160	chr4:187680357-187680358	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575902950	chr4:187680388-187680389	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561077769	chr4:187680394-187680395	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544958081	chr4:187680409-187680410	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561544217	chr4:187680422-187680423	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529738726	chr4:187680445-187680446	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539813798	chr4:187680470-187680471	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201319150	chr4:187680471-187680472	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115634068	chr4:187680560-187680561	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146707103	chr4:187680630-187680631	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139363298	chr4:187680643-187680644	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143298439	chr4:187680655-187680656	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531386030	chr4:187680688-187680689	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185525806	chr4:187680694-187680695	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189938249	chr4:187680719-187680720	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111928335	chr4:187680754-187680755	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536663328	chr4:187680761-187680762	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553050101	chr4:187680771-187680772	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147464287	chr4:187680787-187680788	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573116436	chr4:187680810-187680811	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538799057	chr4:187680959-187680960	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs57740985	chr4:187680975-187680976	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577063046	chr4:187680976-187680977	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78391905	chr4:187680977-187680978	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs57883044	chr4:187680984-187680985	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559081047	chr4:187680985-187680986	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397996586	chr4:187680994-187680995	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370101494	chr4:187681043-187681044	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540333062	chr4:187681059-187681060	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549950816	chr4:187681070-187681071	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558673691	chr4:187681081-187681082	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544793989	chr4:187681127-187681128	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187675600-187682200	Weak transcription	HSMMtube	muscle
2	chr4:187676600-187681600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:187677200-187685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:187679200-187679800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:187679400-187681800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:187679400-187681800	Weak transcription	HepG2	liver
7	chr4:187679400-187682200	Active TSS	K562	blood
8	chr4:187679600-187681600	Weak transcription	HSMM	muscle
9	chr4:187679600-187682800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:187679800-187682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:187681000-187683000	Enhancers	HMEC	breast
12	chr4:187681200-187681400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:187681200-187683200	Enhancers	NHDF-Ad	bronchial
14	chr4:187681200-187684400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:187681400-187683000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:187681600-187682400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:187681600-187682600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:187681600-187682800	Enhancers	Osteobl	bone
19	chr4:187681600-187683000	Enhancers	HSMM	muscle
20	chr4:187681600-187683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:187681600-187683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:187681800-187682000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:187681800-187682000	Enhancers	Fetal Kidney	kidney
24	chr4:187681800-187682200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:187681800-187682600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:187681800-187682800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:187681800-187683000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:187681800-187683400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:187681800-187684800	Enhancers	HepG2	liver
30	chr4:187682000-187682400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:187682000-187683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:187682200-187682400	Enhancers	NH-A	brain
33	chr4:187682200-187683000	Enhancers	HSMMtube	muscle
34	chr4:187682200-187683200	Enhancers	K562	blood
35	chr4:187682200-187686600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:187682400-187683000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:187682400-187683000	Enhancers	Adipose Nuclei	Adipose
38	chr4:187682400-187685800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:187682400-187686400	Weak transcription	A549	lung
40	chr4:187682400-187686400	Weak transcription	NH-A	brain
41	chr4:187682400-187686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:187682600-187683000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:187682600-187686000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:187682600-187686800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:187682800-187683400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:187682800-187683400	Enhancers	Fetal Muscle Leg	muscle
47	chr4:187682800-187683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:187682800-187684400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:187682800-187684400	Enhancers	Fetal Intestine Large	intestine
50	chr4:187682800-187684400	Enhancers	Fetal Intestine Small	intestine

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