Variant report

Variant	nsv967706
Chromosome Location	chr4:174277879-174279663
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:174253186..174258199-chr4:174276395..174281769,8	MCF-7	breast:
2	chr4:174266320..174268123-chr4:174277725..174279289,2	K562	blood:
3	chr4:174256113..174258994-chr4:174279527..174281054,2	K562	blood:
4	chr4:174253509..174260345-chr4:174271547..174278319,12	K562	blood:
5	chr4:174276338..174279776-chr4:174291363..174293028,3	K562	blood:
6	chr4:174248778..174262653-chr4:174278408..174298501,82	K562	blood:
7	chr4:174266783..174269707-chr4:174275143..174277919,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAP30-1	chr4:174278214-174278723	XLOC_003780
2	lnc-SAP30-1	chr4:174279210-174279931	NONHSAT099238
3	lnc-SAP30-1	chr4:174278082-174279252	NONHSAT099237

No data

Variant related genes	Relation type
ENSG00000272870	chromatin interactions
ENSG00000164105	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000248774	chromatin interactions
BCL2L11	miRNA target sites

Extended variants
information (count: 53 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142274214	chr4:174277963-174277964	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs528401133	chr4:174278008-174278009	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183116191	chr4:174278010-174278011	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs561748172	chr4:174278011-174278012	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs557477351	chr4:174278090-174278091	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs530582807	chr4:174278124-174278125	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs550701417	chr4:174278160-174278161	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs187373119	chr4:174278258-174278259	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs374636094	chr4:174278288-174278289	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs368605530	chr4:174278336-174278337	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs574215607	chr4:174278337-174278338	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs143829885	chr4:174278370-174278371	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs543041618	chr4:174278415-174278416	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs546313569	chr4:174278447-174278448	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs372471526	chr4:174278465-174278466	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs566491156	chr4:174278478-174278479	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs567133166	chr4:174278495-174278496	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs374141724	chr4:174278513-174278514	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs147971645	chr4:174278527-174278528	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs191823997	chr4:174278542-174278543	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs538095357	chr4:174278566-174278567	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs557820754	chr4:174278677-174278678	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs553133856	chr4:174278752-174278753	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs369700432	chr4:174278785-174278786	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs540597072	chr4:174278787-174278788	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs553897635	chr4:174278810-174278811	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs573056666	chr4:174278833-174278834	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs541764954	chr4:174278851-174278852	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs561820777	chr4:174278892-174278893	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs75382538	chr4:174278941-174278942	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs141631781	chr4:174279001-174279002	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs564158070	chr4:174279015-174279016	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs533088058	chr4:174279027-174279028	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs546547353	chr4:174279058-174279059	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs184327900	chr4:174279095-174279096	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs555176083	chr4:174279096-174279097	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs150535634	chr4:174279139-174279140	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs187884630	chr4:174279185-174279186	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs569249825	chr4:174279191-174279192	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs74416310	chr4:174279249-174279250	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs76814870	chr4:174279259-174279260	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs571376249	chr4:174279263-174279264	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs534047953	chr4:174279304-174279305	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs7670317	chr4:174279376-174279377	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139538387	chr4:174279448-174279449	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs142797311	chr4:174279455-174279456	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs35208323	chr4:174279502-174279503	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs115926924	chr4:174279503-174279504	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs575647118	chr4:174279531-174279532	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs147413056	chr4:174279534-174279535	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian cancer	22355333	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174256800-174280400	Weak transcription	Aorta	Aorta
2	chr4:174259200-174290400	Weak transcription	Thymus	Thymus
3	chr4:174265400-174278200	Weak transcription	Ovary	ovary
4	chr4:174277600-174289200	Weak transcription	Fetal Brain Female	brain
5	chr4:174278200-174279000	Enhancers	Ovary	ovary
6	chr4:174279000-174279400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:174279000-174288200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:174279000-174290200	Weak transcription	Ovary	ovary

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