Variant report

Variant	esv3425138
Chromosome Location	chr4:3600354-3614352
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3602447..3604350-chr4:3607841..3610609,2	K562	blood:
2	chr4:3589181..3591433-chr4:3604474..3606067,2	MCF-7	breast:
3	chr4:3602142..3603748-chr4:3605850..3607460,2	MCF-7	breast:
4	chr4:3597553..3600117-chr4:3602844..3606284,4	K562	blood:
5	chr4:3597398..3599572-chr4:3602811..3604906,3	K562	blood:
6	chr4:3614332..3616102-chr4:3632475..3634431,2	MCF-7	breast:
7	chr4:3603523..3606403-chr4:3623528..3625485,2	K562	blood:
8	chr4:3602142..3603748-chr4:3605850..3607460,2	MCF-7	breast:
9	chr4:3608635..3609305-chr8:108914123..108914952,2	MCF-7	breast:
10	chr4:3602447..3604350-chr4:3607841..3610609,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRPAP1-5	chr4:3600324-3600789	NONHSAT094890
2	lnc-LRPAP1-5	chr4:3600844-3601755	NONHSAT094890

No data

Extended variants
information (count: 1275 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1275 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71202510	chr4:3600370-3600371	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs62273036	chr4:3600386-3600387	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs142313548	chr4:3600388-3600389	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569407747	chr4:3600392-3600393	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs538243900	chr4:3600453-3600454	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201586686	chr4:3600454-3600455	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201212198	chr4:3600459-3600460	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs79962836	chr4:3600475-3600476	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs76343813	chr4:3600476-3600477	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs534326059	chr4:3600477-3600478	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs369469148	chr4:3600478-3600479	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs554287212	chr4:3600483-3600484	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs62273037	chr4:3600485-3600486	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs62273038	chr4:3600492-3600493	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs62273039	chr4:3600499-3600500	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs28666032	chr4:3600504-3600505	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs80225900	chr4:3600514-3600515	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs544867631	chr4:3600523-3600524	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558824042	chr4:3600524-3600525	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575419669	chr4:3600525-3600526	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs372724839	chr4:3600528-3600529	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs544209731	chr4:3600531-3600532	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs115658768	chr4:3600533-3600534	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs560583497	chr4:3600534-3600535	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs78909426	chr4:3600537-3600538	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs111293941	chr4:3600567-3600568	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs529619414	chr4:3600568-3600569	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs566689185	chr4:3600576-3600577	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs535754299	chr4:3600585-3600586	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs79717255	chr4:3600588-3600589	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs112990068	chr4:3600590-3600591	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs73203105	chr4:3600603-3600604	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs555592614	chr4:3600609-3600610	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs71995053	chr4:3600613-3600614	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs377212880	chr4:3600621-3600622	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs140814550	chr4:3600623-3600624	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539982587	chr4:3600644-3600645	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs559802736	chr4:3600645-3600646	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs111161829	chr4:3600649-3600650	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs532748916	chr4:3600650-3600651	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs111161830	chr4:3600656-3600657	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs555543548	chr4:3600661-3600662	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs552441233	chr4:3600664-3600665	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs111065371	chr4:3600676-3600677	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs62644711	chr4:3600679-3600680	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs111203524	chr4:3600698-3600699	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs548887073	chr4:3600700-3600701	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs111066707	chr4:3600709-3600710	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs568495313	chr4:3600712-3600713	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs534182297	chr4:3600713-3600714	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3595800-3603400	Weak transcription	Right Atrium	heart
2	chr4:3597000-3604200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3597000-3608000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:3597400-3601200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr4:3598600-3607600	ZNF genes & repeats	Fetal Stomach	stomach
6	chr4:3598800-3601000	ZNF genes & repeats	Spleen	Spleen
7	chr4:3599400-3601000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:3599600-3600400	Enhancers	Brain Anterior Caudate	brain
9	chr4:3599600-3601000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:3599800-3600600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:3599800-3600600	Enhancers	Fetal Brain Female	brain
12	chr4:3599800-3601800	ZNF genes & repeats	Fetal Brain Male	brain
13	chr4:3600000-3600400	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:3600000-3600400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:3600000-3600800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr4:3600000-3601600	ZNF genes & repeats	Fetal Lung	lung
17	chr4:3600000-3604200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:3600200-3600600	ZNF genes & repeats	Fetal Heart	heart
19	chr4:3600200-3600800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:3600200-3601000	ZNF genes & repeats	Gastric	stomach
21	chr4:3600200-3601400	ZNF genes & repeats	Esophagus	oesophagus
22	chr4:3600200-3601600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:3600200-3601600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:3600200-3602200	ZNF genes & repeats	Pancreas	Pancrea
25	chr4:3600400-3601000	ZNF genes & repeats	Fetal Kidney	kidney
26	chr4:3600400-3601600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
27	chr4:3600600-3601400	Weak transcription	Fetal Brain Female	brain
28	chr4:3600800-3601000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
29	chr4:3601000-3601200	Weak transcription	Spleen	Spleen
30	chr4:3601200-3601400	Enhancers	Spleen	Spleen
31	chr4:3601400-3601600	Enhancers	Fetal Brain Female	brain
32	chr4:3601400-3601600	Flanking Active TSS	Spleen	Spleen
33	chr4:3601600-3602000	Bivalent Enhancer	Placenta	Placenta
34	chr4:3601600-3602000	Active TSS	Spleen	Spleen
35	chr4:3601600-3611600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:3602800-3603600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:3603000-3604800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:3603200-3604000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:3604200-3605200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:3605000-3606600	ZNF genes & repeats	Fetal Brain Female	brain
41	chr4:3605200-3605400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr4:3605200-3605600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr4:3605200-3605600	Enhancers	Spleen	Spleen
44	chr4:3605200-3611400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:3605600-3606600	Weak transcription	Spleen	Spleen
46	chr4:3606200-3606600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr4:3606200-3607800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr4:3606400-3608000	ZNF genes & repeats	Thymus	Thymus
49	chr4:3606600-3607000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
50	chr4:3606600-3607000	Active TSS	Spleen	Spleen

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