Variant report

Variant	nsv999337
Chromosome Location	chr4:58062325-58099729
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: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	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
2	chr4:58061801..58064588-chr4:58070107..58072268,2	K562	blood:
3	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	chr4:58067299-58067381	ENSG00000245067.2
2	lnc-POLR2B-1	chr4:58071240-58071676	ENSG00000245067.2
3	lnc-POLR2B-1	chr4:58070644-58070759	ENSG00000245067.2
4	lnc-POLR2B-1	chr4:58067952-58067986	XLOC_003547
5	lnc-POLR2B-1	chr4:58067299-58067381	XLOC_003547
6	lnc-POLR2B-1	chr4:58070644-58070759	ENSG00000245067.2
7	lnc-POLR2B-1	chr4:58071240-58071465	ENSG00000245067.2
8	lnc-POLR2B-1	chr4:58067584-58067986	XLOC_003547
9	lnc-POLR2B-1	chr4:58067299-58067986	ENSG00000245067.2
10	lnc-POLR2B-1	chr4:58070644-58070740	NONHSAT096554
11	lnc-POLR2B-1	chr4:58071240-58071464	NONHSAT096544
12	lnc-POLR2B-1	chr4:58071240-58071627	XLOC_003547
13	lnc-POLR2B-1	chr4:58071240-58071676	XLOC_003547
14	lnc-POLR2B-1	chr4:58067299-58067381	XLOC_003547
15	lnc-POLR2B-1	chr4:58070644-58070759	XLOC_003547
16	lnc-POLR2B-1	chr4:58069401-58069761	NONHSAT096554
17	lnc-POLR2B-1	chr4:58067299-58068163	XLOC_003547
18	lnc-POLR2B-1	chr4:58071240-58071590	XLOC_003547
19	lnc-POLR2B-1	chr4:58069674-58069736	XLOC_003547
20	lnc-POLR2B-1	chr4:58070307-58070759	XLOC_003547
21	lnc-POLR2B-1	chr4:58070644-58070759	XLOC_003547

No data

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

Extended variants
information (count: 1476 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1476 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17087653	chr4:58062325-58062326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536277343	chr4:58062405-58062406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147847138	chr4:58062445-58062446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572480862	chr4:58062462-58062463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56232603	chr4:58062531-58062532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558191429	chr4:58062564-58062565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578155201	chr4:58062586-58062587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543653271	chr4:58062686-58062687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141487924	chr4:58062711-58062712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574235817	chr4:58062718-58062719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73242672	chr4:58062755-58062756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535409369	chr4:58062781-58062782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190566438	chr4:58062795-58062796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554658002	chr4:58062837-58062838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73172315	chr4:58062848-58062849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112695969	chr4:58062852-58062853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73242673	chr4:58062862-58062863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572227924	chr4:58062906-58062907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370876320	chr4:58062939-58062940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17497643	chr4:58062949-58062950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550483953	chr4:58062951-58062952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113825252	chr4:58062962-58062963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567417818	chr4:58062975-58062976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536180098	chr4:58063016-58063017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73172317	chr4:58063024-58063025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566142961	chr4:58063055-58063056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370491826	chr4:58063081-58063082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79210350	chr4:58063102-58063103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558279200	chr4:58063143-58063144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182475230	chr4:58063175-58063176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547771335	chr4:58063202-58063203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537686105	chr4:58063291-58063292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145186512	chr4:58063301-58063302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574130926	chr4:58063328-58063329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543353171	chr4:58063383-58063384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145306898	chr4:58063384-58063385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566265812	chr4:58063403-58063404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564953850	chr4:58063454-58063455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147617059	chr4:58063464-58063465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140758397	chr4:58063465-58063466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34776447	chr4:58063475-58063476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545398195	chr4:58063509-58063510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150120196	chr4:58063521-58063522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530922681	chr4:58063534-58063535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187113856	chr4:58063539-58063540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6831713	chr4:58063546-58063547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529801999	chr4:58063559-58063560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546533234	chr4:58063569-58063570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192316804	chr4:58063640-58063641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562607459	chr4:58063662-58063663	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58060600-58063200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:58060800-58067000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:58060800-58078800	Weak transcription	Aorta	Aorta
4	chr4:58062200-58063400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:58063400-58063600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:58066400-58067600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:58066400-58067600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:58066800-58067400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:58067000-58067400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:58067000-58067600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:58067000-58067600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:58067000-58067600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:58067200-58067400	Active TSS	Brain Anterior Caudate	brain
14	chr4:58067400-58067600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr4:58067400-58072200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:58067600-58072000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:58067600-58072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:58067600-58072200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:58071800-58072600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:58072000-58072200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr4:58072000-58072400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:58072000-58072400	Bivalent Enhancer	Fetal Kidney	kidney
23	chr4:58072000-58072800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:58072000-58073000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:58072000-58073200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:58072200-58072400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:58072200-58072800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:58072200-58072800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:58072200-58072800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:58072200-58072800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:58072200-58072800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:58072200-58072800	Enhancers	Spleen	Spleen
33	chr4:58072200-58073200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:58072400-58072800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:58072600-58072800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr4:58072800-58073800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:58072800-58087000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:58073800-58074600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr4:58080000-58082200	Enhancers	HSMMtube	muscle
40	chr4:58080400-58085600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:58080600-58081800	Enhancers	HSMM	muscle
42	chr4:58081200-58081800	Enhancers	Fetal Muscle Leg	muscle
43	chr4:58085400-58086400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr4:58085600-58086000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr4:58085600-58086200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:58085600-58086400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:58085800-58086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:58085800-58086400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:58085800-58087200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:58086000-58086200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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