Variant report

Variant	nsv461366
Chromosome Location	chr4:58055260-58098554
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:5)
LncRNA
region (count:21)
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	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:
2	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
3	chr4:58056446..58057481-chr4:58169186..58169817,3	MCF-7	breast:
4	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
5	chr4:58029500..58030425-chr4:58077363..58078281,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 1678 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1678 , 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	rs13145188	chr4:58055260-58055261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546828518	chr4:58055268-58055269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146950900	chr4:58055393-58055394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186708243	chr4:58055426-58055427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138044754	chr4:58055437-58055438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559785867	chr4:58055481-58055482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528543590	chr4:58055537-58055538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551779635	chr4:58055539-58055540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189770003	chr4:58055551-58055552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531044391	chr4:58055564-58055565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550772887	chr4:58055576-58055577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567460753	chr4:58055609-58055610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571718229	chr4:58055616-58055617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182493346	chr4:58055670-58055671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527493998	chr4:58055695-58055696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536017354	chr4:58055703-58055704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553270002	chr4:58055729-58055730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13114376	chr4:58055767-58055768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566649404	chr4:58055779-58055780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143408443	chr4:58055802-58055803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150522041	chr4:58055865-58055866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199950325	chr4:58055890-58055891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537815066	chr4:58055891-58055892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367651473	chr4:58055892-58055893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73818702	chr4:58055893-58055894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386400140	chr4:58055901-58055902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574858151	chr4:58055903-58055904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113288847	chr4:58055929-58055930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71208989	chr4:58055930-58055931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11945897	chr4:58055949-58055950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554320525	chr4:58055952-58055953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138301167	chr4:58055963-58055964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374183640	chr4:58055996-58055997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571614975	chr4:58056038-58056039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538976995	chr4:58056042-58056043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192391344	chr4:58056066-58056067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185891333	chr4:58056092-58056093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528779887	chr4:58056095-58056096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375530635	chr4:58056109-58056110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184123182	chr4:58056130-58056131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530883733	chr4:58056151-58056152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188227406	chr4:58056159-58056160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553593330	chr4:58056249-58056250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77359155	chr4:58056308-58056309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529944558	chr4:58056335-58056336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79781195	chr4:58056390-58056391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569183907	chr4:58056391-58056392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368857195	chr4:58056494-58056495	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17497594	chr4:58056503-58056504	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573083132	chr4:58056558-58056559	Weak transcription Bivalent Enhancer Enhancers	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:227 , 50 per page) page: 1 2 3 4 5

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	chr4:58051200-58057000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:58052800-58058200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:58052800-58060400	Weak transcription	Aorta	Aorta
8	chr4:58054000-58055400	Weak transcription	Brain Anterior Caudate	brain
9	chr4:58054000-58057200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:58054000-58057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:58054000-58057800	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:58054000-58059400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:58054200-58056400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:58054200-58056600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:58054200-58056600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:58054200-58057600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:58054200-58058000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:58054200-58059400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:58054600-58056800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:58056400-58057000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:58056400-58057400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr4:58056400-58058200	Enhancers	Fetal Stomach	stomach
23	chr4:58056400-58058400	Enhancers	Fetal Lung	lung
24	chr4:58056400-58059800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:58056400-58059800	Enhancers	Colon Smooth Muscle	Colon
26	chr4:58056400-58060800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr4:58056400-58060800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:58056600-58057000	Enhancers	Stomach Smooth Muscle	stomach
29	chr4:58056600-58057400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr4:58056600-58058200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr4:58056600-58058200	Enhancers	Fetal Kidney	kidney
32	chr4:58056600-58058400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:58056600-58059600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr4:58056600-58060000	Enhancers	Fetal Muscle Leg	muscle
35	chr4:58056600-58060600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:58056600-58060800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:58056800-58057000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:58056800-58057200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr4:58056800-58058200	Enhancers	Fetal Intestine Small	intestine
40	chr4:58056800-58060200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:58056800-58060600	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:58057000-58057200	Enhancers	Fetal Heart	heart
43	chr4:58057000-58057200	Enhancers	Fetal Muscle Trunk	muscle
44	chr4:58057000-58057400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr4:58057000-58058000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:58057000-58062200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:58057200-58057600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:58057200-58057800	Weak transcription	Fetal Heart	heart
49	chr4:58057200-58059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:58057400-58057600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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