Variant report

Variant	nsv1001380
Chromosome Location	chr4:58051636-58099729
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:5)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 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:
4	chr4:58056446..58057481-chr4:58169186..58169817,3	MCF-7	breast:
5	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 1874 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1874 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562794678	chr4:58051641-58051642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73242670	chr4:58051682-58051683	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376283620	chr4:58051798-58051799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545895740	chr4:58051833-58051834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369493450	chr4:58051930-58051931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562603274	chr4:58051972-58051973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190409263	chr4:58052011-58052012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547981051	chr4:58052018-58052019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560611813	chr4:58052108-58052109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148596111	chr4:58052180-58052181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142921482	chr4:58052218-58052219	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs151090330	chr4:58052236-58052237	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs183046963	chr4:58052247-58052248	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs574706594	chr4:58052277-58052278	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs532790676	chr4:58052290-58052291	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs34469597	chr4:58052319-58052320	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376028727	chr4:58052359-58052360	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs372896464	chr4:58052364-58052365	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs551438029	chr4:58052378-58052379	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs62310774	chr4:58052381-58052382	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538486998	chr4:58052398-58052399	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs554841432	chr4:58052411-58052412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115385341	chr4:58052464-58052465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534248049	chr4:58052482-58052483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11414453	chr4:58052483-58052484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112039244	chr4:58052489-58052490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397823284	chr4:58052492-58052493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186483824	chr4:58052501-58052502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10008775	chr4:58052505-58052506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556289248	chr4:58052571-58052572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576108451	chr4:58052583-58052584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541659794	chr4:58052591-58052592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191023538	chr4:58052625-58052626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550647301	chr4:58052631-58052632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183291657	chr4:58052634-58052635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527452059	chr4:58052653-58052654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540968430	chr4:58052661-58052662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564363154	chr4:58052662-58052663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140488209	chr4:58052663-58052664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549799968	chr4:58052672-58052673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145658608	chr4:58052673-58052674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528980907	chr4:58052686-58052687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376565942	chr4:58052751-58052752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568564746	chr4:58052770-58052771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536410644	chr4:58052794-58052795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187510870	chr4:58052806-58052807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191491827	chr4:58052830-58052831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6849148	chr4:58052845-58052846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539479024	chr4:58052852-58052853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116340463	chr4:58052855-58052856	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:306 , 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	chr4:58049000-58059400	Weak transcription	Brain Angular Gyrus	brain
4	chr4:58049200-58059200	Weak transcription	Brain Substantia Nigra	brain
5	chr4:58050200-58054200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:58050400-58052400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr4:58050400-58054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:58050600-58052200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:58050800-58052000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:58050800-58052600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:58051000-58052200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:58051000-58053400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:58051200-58052000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:58051200-58057000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:58051400-58051800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:58051400-58053600	Weak transcription	Brain Anterior Caudate	brain
17	chr4:58051400-58054200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:58051600-58053600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:58051600-58053600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:58051800-58052000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:58051800-58052000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:58051800-58052800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:58051800-58054000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:58051800-58054200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:58051800-58054200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:58052000-58053000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:58052000-58053400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:58052000-58054200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:58052000-58054200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:58052200-58052400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:58052200-58052400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:58052200-58052600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:58052200-58053600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:58052200-58054200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:58052200-58054400	Enhancers	HMEC	breast
36	chr4:58052400-58053600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:58052400-58053600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:58052400-58054600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:58052600-58053600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:58052600-58054200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:58052600-58054400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:58052600-58054400	Enhancers	NHEK	skin
43	chr4:58052800-58058200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:58052800-58060400	Weak transcription	Aorta	Aorta
45	chr4:58053000-58054800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr4:58053400-58053800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:58053400-58053800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:58053400-58054000	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:58053600-58054000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr4:58053600-58054000	Enhancers	Brain Anterior Caudate	brain

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