Variant report

Variant	esv2830328
Chromosome Location	chr4:58064464-58098554
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:3)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:58029500..58030425-chr4:58077363..58078281,2	K562	blood:
2	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
3	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:

(count:21 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1346 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10014421	chr4:58064464-58064465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548025119	chr4:58064468-58064469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189002927	chr4:58064697-58064698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10028413	chr4:58064706-58064707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373038098	chr4:58064716-58064717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192260897	chr4:58064765-58064766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148819931	chr4:58064787-58064788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538963574	chr4:58064833-58064834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559166940	chr4:58064877-58064878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184150571	chr4:58064885-58064886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544593165	chr4:58064888-58064889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556710028	chr4:58064912-58064913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554796052	chr4:58064988-58064989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190004286	chr4:58065046-58065047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181311281	chr4:58065077-58065078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185893646	chr4:58065083-58065084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550415716	chr4:58065106-58065107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189255311	chr4:58065131-58065132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545819111	chr4:58065171-58065172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562797585	chr4:58065206-58065207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543307690	chr4:58065304-58065305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77105916	chr4:58065319-58065320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57186480	chr4:58065321-58065322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77681544	chr4:58065359-58065360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548152298	chr4:58065389-58065390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568024319	chr4:58065398-58065399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527402929	chr4:58065497-58065498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56220550	chr4:58065498-58065499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568135574	chr4:58065528-58065529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377727309	chr4:58065532-58065533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10657419	chr4:58065560-58065561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77829048	chr4:58065561-58065562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74788756	chr4:58065581-58065582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71657260	chr4:58065606-58065607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145919594	chr4:58065607-58065608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79150100	chr4:58065622-58065623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80244334	chr4:58065623-58065624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200342662	chr4:58065624-58065625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9685839	chr4:58065634-58065635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539216795	chr4:58065674-58065675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552669195	chr4:58065675-58065676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143468569	chr4:58065692-58065693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371434872	chr4:58065744-58065745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374389254	chr4:58065779-58065780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554560323	chr4:58065808-58065809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142250967	chr4:58065810-58065811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534031477	chr4:58065899-58065900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553839240	chr4:58065920-58065921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539063517	chr4:58065947-58065948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181776579	chr4:58065985-58065986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	18451855	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58060800-58067000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr4:58060800-58078800	Weak transcription	Aorta	Aorta
3	chr4:58066400-58067600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:58066400-58067600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:58066800-58067400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:58067000-58067400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:58067000-58067600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:58067000-58067600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:58067000-58067600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:58067200-58067400	Active TSS	Brain Anterior Caudate	brain
11	chr4:58067400-58067600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr4:58067400-58072200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:58067600-58072000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:58067600-58072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:58067600-58072200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:58071800-58072600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:58072000-58072200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr4:58072000-58072400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:58072000-58072400	Bivalent Enhancer	Fetal Kidney	kidney
20	chr4:58072000-58072800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:58072000-58073000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:58072000-58073200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:58072200-58072400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:58072200-58072800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:58072200-58072800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:58072200-58072800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:58072200-58072800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:58072200-58072800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:58072200-58072800	Enhancers	Spleen	Spleen
30	chr4:58072200-58073200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:58072400-58072800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:58072600-58072800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr4:58072800-58073800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:58072800-58087000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:58073800-58074600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:58080000-58082200	Enhancers	HSMMtube	muscle
37	chr4:58080400-58085600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:58080600-58081800	Enhancers	HSMM	muscle
39	chr4:58081200-58081800	Enhancers	Fetal Muscle Leg	muscle
40	chr4:58085400-58086400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr4:58085600-58086000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr4:58085600-58086200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr4:58085600-58086400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:58085800-58086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:58085800-58086400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:58085800-58087200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:58086000-58086200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:58086000-58086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:58086000-58087200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:58086400-58086800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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