Variant report

Variant	esv14052
Chromosome Location	chr4:58050201-58100690
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:6)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:
2	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:
3	chr4:58029500..58030425-chr4:58077363..58078281,2	K562	blood:
4	chr4:58056446..58057481-chr4:58169186..58169817,3	MCF-7	breast:
5	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
6	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2B-1	chr4:58054431-58054485	XLOC_003547
2	lnc-POLR2B-1	chr4:58071240-58071676	ENSG00000245067.2
3	lnc-POLR2B-1	chr4:58071240-58071590	XLOC_003547
4	lnc-POLR2B-1	chr4:58067299-58067381	XLOC_003547
5	lnc-POLR2B-1	chr4:58070644-58070740	NONHSAT096554
6	lnc-POLR2B-1	chr4:58067299-58068163	XLOC_003547
7	lnc-POLR2B-1	chr4:58070644-58070759	XLOC_003547
8	lnc-POLR2B-1	chr4:58070307-58070759	XLOC_003547
9	lnc-POLR2B-1	chr4:58069674-58069736	XLOC_003547
10	lnc-POLR2B-1	chr4:58071240-58071465	ENSG00000245067.2
11	lnc-POLR2B-1	chr4:58067584-58067986	XLOC_003547
12	lnc-POLR2B-1	chr4:58054336-58054485	ENSG00000245067.2
13	lnc-POLR2B-1	chr4:58071240-58071627	XLOC_003547
14	lnc-POLR2B-1	chr4:58067299-58067381	XLOC_003547
15	lnc-POLR2B-1	chr4:58070644-58070759	XLOC_003547
16	lnc-POLR2B-1	chr4:58071240-58071676	XLOC_003547
17	lnc-POLR2B-1	chr4:58069401-58069761	NONHSAT096554
18	lnc-POLR2B-1	chr4:58067952-58067986	XLOC_003547
19	lnc-POLR2B-1	chr4:58067299-58067986	ENSG00000245067.2
20	lnc-POLR2B-1	chr4:58070644-58070759	ENSG00000245067.2
21	lnc-POLR2B-1	chr4:58070644-58070759	ENSG00000245067.2
22	lnc-POLR2B-1	chr4:58067299-58067381	ENSG00000245067.2
23	lnc-POLR2B-1	chr4:58071240-58071464	NONHSAT096544

No data

Variant related genes	Relation type
HAUS3	miRNA target sites
SPATS2	miRNA target sites
INSIG1	miRNA target sites
TMX3	miRNA target sites
INSIG2	miRNA target sites

Extended variants
information (count: 1982 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1982 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185001639	chr4:58050208-58050209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188936978	chr4:58050233-58050234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145584945	chr4:58050267-58050268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148068590	chr4:58050283-58050284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113396307	chr4:58050284-58050285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565628353	chr4:58050303-58050304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537549249	chr4:58050306-58050307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531207754	chr4:58050325-58050326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141727779	chr4:58050414-58050415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112300211	chr4:58050437-58050438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181719536	chr4:58050450-58050451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71601678	chr4:58050565-58050566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566810985	chr4:58050613-58050614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184089597	chr4:58050631-58050632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551949383	chr4:58050685-58050686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568848270	chr4:58050720-58050721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537765619	chr4:58050733-58050734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554416821	chr4:58050776-58050777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189789222	chr4:58050782-58050783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534983509	chr4:58050805-58050806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553426062	chr4:58050806-58050807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142756058	chr4:58050809-58050810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180864323	chr4:58050813-58050814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576865088	chr4:58050855-58050856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578181397	chr4:58050896-58050897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545613940	chr4:58050918-58050919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34714397	chr4:58050921-58050922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185757723	chr4:58050958-58050959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147342786	chr4:58050969-58050970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545412372	chr4:58050984-58050985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544939686	chr4:58051008-58051009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561518113	chr4:58051021-58051022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574784198	chr4:58051024-58051025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540254764	chr4:58051025-58051026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563900030	chr4:58051031-58051032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191105523	chr4:58051034-58051035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557208794	chr4:58051041-58051042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76120075	chr4:58051094-58051095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370024576	chr4:58051095-58051096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531357990	chr4:58051119-58051120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548091435	chr4:58051120-58051121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542898345	chr4:58051136-58051137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568257150	chr4:58051198-58051199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34184487	chr4:58051210-58051211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139475635	chr4:58051272-58051273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547057674	chr4:58051281-58051282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570559973	chr4:58051327-58051328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181763426	chr4:58051336-58051337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556263445	chr4:58051347-58051348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561198611	chr4:58051352-58051353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58047400-58059600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:58048600-58059600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:58048800-58050600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:58049000-58050400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:58049000-58050600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:58049000-58050600	Weak transcription	Brain Anterior Caudate	brain
7	chr4:58049000-58059400	Weak transcription	Brain Angular Gyrus	brain
8	chr4:58049200-58050400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:58049200-58059200	Weak transcription	Brain Substantia Nigra	brain
10	chr4:58049400-58050400	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:58049800-58051000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:58050200-58050800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:58050200-58054200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:58050400-58050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:58050400-58050600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:58050400-58050800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:58050400-58051200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:58050400-58051400	Enhancers	Brain Germinal Matrix	brain
19	chr4:58050400-58051600	Enhancers	Brain Hippocampus Middle	brain
20	chr4:58050400-58052400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:58050400-58054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:58050600-58050800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:58050600-58050800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:58050600-58051200	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:58050600-58051400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:58050600-58051400	Enhancers	Brain Anterior Caudate	brain
27	chr4:58050600-58051600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:58050600-58052200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:58050800-58051000	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:58050800-58052000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:58050800-58052600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:58051000-58051200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:58051000-58052200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:58051000-58053400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:58051200-58052000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:58051200-58057000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:58051400-58051800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:58051400-58053600	Weak transcription	Brain Anterior Caudate	brain
39	chr4:58051400-58054200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:58051600-58053600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:58051600-58053600	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:58051800-58052000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:58051800-58052000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:58051800-58052800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:58051800-58054000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:58051800-58054200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:58051800-58054200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:58052000-58053000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:58052000-58053400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:58052000-58054200	Enhancers	HUES6 Cell Line	embryonic stem cell

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