Variant report

Variant	nsv522681
Chromosome Location	chr4:90603044-90630901
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:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90615817..90617413-chr4:90622737..90624751,2	K562	blood:
2	chr4:90615817..90617413-chr4:90622737..90624751,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-2	chr4:90612436-90612556	ENSG00000251095.1
2	lnc-MMRN1-2	chr4:90612436-90612524	ENSG00000251095.1
3	lnc-SNCA-1	chr4:90623425-90623525	XLOC_004017
4	lnc-MMRN1-2	chr4:90612436-90612556	ENSG00000251095.1
5	lnc-MMRN1-2	chr4:90613566-90615087	ENSG00000251095.1
6	lnc-MMRN1-2	chr4:90612436-90612556	ENSG00000251095.1
7	lnc-TIGD2-1	chr4:90612436-90612556	ENSG00000251095.2

No data

Variant related genes	Relation type
MAP3K11	miRNA target sites

Extended variants
information (count: 1044 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1044 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17015982	chr4:90603044-90603045	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76448497	chr4:90603063-90603064	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs58955924	chr4:90603104-90603105	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189291108	chr4:90603134-90603135	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181907911	chr4:90603182-90603183	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570230744	chr4:90603202-90603203	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs17015985	chr4:90603210-90603211	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs118117759	chr4:90603228-90603229	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371251501	chr4:90603260-90603261	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555516003	chr4:90603316-90603317	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140507952	chr4:90603371-90603372	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12644119	chr4:90603419-90603420	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570322780	chr4:90603422-90603423	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571156837	chr4:90603437-90603438	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185460603	chr4:90603456-90603457	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559164452	chr4:90603488-90603489	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566452483	chr4:90603539-90603540	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577344298	chr4:90603585-90603586	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541199878	chr4:90603596-90603597	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs553419214	chr4:90603604-90603605	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574789606	chr4:90603655-90603656	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs17015987	chr4:90603656-90603657	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78865274	chr4:90603678-90603679	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530684574	chr4:90603684-90603685	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545617021	chr4:90603685-90603686	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538747716	chr4:90603695-90603696	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558470457	chr4:90603750-90603751	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs190963611	chr4:90603813-90603814	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543978347	chr4:90603824-90603825	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528273967	chr4:90603837-90603838	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556296417	chr4:90603881-90603882	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs35088488	chr4:90603929-90603930	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs397762564	chr4:90603930-90603931	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181364623	chr4:90604014-90604015	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576094030	chr4:90604042-90604043	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371410168	chr4:90604044-90604045	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545274524	chr4:90604049-90604050	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568100654	chr4:90604052-90604053	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528890448	chr4:90604070-90604071	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs11945827	chr4:90604093-90604094	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560060703	chr4:90604096-90604097	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537766890	chr4:90604135-90604136	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559276167	chr4:90604156-90604157	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570995043	chr4:90604178-90604179	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs527668711	chr4:90604190-90604191	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544024615	chr4:90604193-90604194	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369954442	chr4:90604195-90604196	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs145255489	chr4:90604202-90604203	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs553197393	chr4:90604235-90604236	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574838129	chr4:90604237-90604238	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Oral squamous cell carcinoma	17134496	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90602200-90605400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr4:90602200-90605600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:90602200-90605800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:90602400-90603400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:90602400-90604800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:90602400-90604800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:90602400-90604800	Flanking Active TSS	Dnd41	blood
8	chr4:90602400-90605600	Active TSS	HMEC	breast
9	chr4:90602600-90604000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:90602600-90604200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr4:90602600-90604200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:90602600-90604200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:90602600-90604400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:90602600-90604400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:90602600-90604400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:90602600-90604400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:90602600-90604600	Active TSS	HepG2	liver
18	chr4:90602600-90604800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:90602600-90604800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr4:90602600-90604800	Active TSS	Placenta	Placenta
21	chr4:90602600-90605000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr4:90602800-90603400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:90602800-90604000	Active TSS	NHEK	skin
24	chr4:90603000-90603200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:90603000-90603800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:90603800-90604600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:90604000-90604400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:90604000-90604800	Flanking Active TSS	NHEK	skin
29	chr4:90604200-90608400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr4:90604200-90608600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:90604400-90604600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:90604400-90604800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:90604400-90604800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:90604400-90605800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:90604400-90616200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:90604600-90604800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:90604600-90605200	Flanking Active TSS	HepG2	liver
38	chr4:90604600-90606200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:90604800-90605200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:90604800-90605200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:90604800-90605200	Enhancers	Dnd41	blood
42	chr4:90604800-90605600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:90604800-90605600	Active TSS	NHEK	skin
44	chr4:90604800-90606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:90604800-90608400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:90604800-90609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:90605000-90605600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:90605200-90605400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:90605200-90605400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:90605200-90605400	Enhancers	HepG2	liver

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