Variant report

Variant	nsv945437
Chromosome Location	chr1:247284815-247289490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247285727..247286228-chr3:81753505..81754005,2	NB4	blood:
2	chr1:247270781..247273183-chr1:247283776..247285390,2	MCF-7	breast:
3	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf229-2	chr1:247285278-247287173	NONHSAT010753

Extended variants
information (count: 264 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181948260	chr1:247284815-247284816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561167595	chr1:247284821-247284822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549631413	chr1:247284864-247284865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377450502	chr1:247284924-247284925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112058514	chr1:247284939-247284940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540734681	chr1:247284950-247284951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565045928	chr1:247284999-247285000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113424966	chr1:247285020-247285021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6680033	chr1:247285021-247285022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs201556749	chr1:247285029-247285030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551840167	chr1:247285036-247285037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57418790	chr1:247285040-247285041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529989298	chr1:247285049-247285050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537459384	chr1:247285081-247285082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4925701	chr1:247285147-247285148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs573615824	chr1:247285148-247285149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4925702	chr1:247285155-247285156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs552777396	chr1:247285207-247285208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572991485	chr1:247285217-247285218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57173493	chr1:247285223-247285224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4925703	chr1:247285224-247285225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs575221733	chr1:247285232-247285233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78338039	chr1:247285239-247285240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569585312	chr1:247285267-247285268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187412512	chr1:247285286-247285287	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs190392682	chr1:247285299-247285300	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs144379360	chr1:247285350-247285351	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs146598640	chr1:247285392-247285393	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs4925704	chr1:247285395-247285396	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs149063581	chr1:247285408-247285409	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs571471445	chr1:247285409-247285410	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs551639658	chr1:247285470-247285471	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs571737832	chr1:247285474-247285475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538828743	chr1:247285506-247285507	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs6670401	chr1:247285549-247285550	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534898227	chr1:247285557-247285558	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs537117747	chr1:247285662-247285663	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs181596337	chr1:247285665-247285666	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs11800000	chr1:247285670-247285671	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11801681	chr1:247285681-247285682	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs58593668	chr1:247285700-247285701	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573014260	chr1:247285711-247285712	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs140091836	chr1:247285838-247285839	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs114522811	chr1:247285865-247285866	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs575888058	chr1:247285888-247285889	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575331078	chr1:247285899-247285900	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544300813	chr1:247285925-247285926	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs147021330	chr1:247285997-247285998	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs370940350	chr1:247286001-247286002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554905354	chr1:247286004-247286005	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247279000-247290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:247282600-247291000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:247285400-247285600	Weak transcription	Right Ventricle	heart
4	chr1:247286400-247290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:247286600-247288200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:247287000-247291000	Weak transcription	Hela-S3	cervix
7	chr1:247288000-247291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:247288200-247288800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:247288200-247289200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:247288200-247291000	Weak transcription	HSMMtube	muscle
11	chr1:247288800-247289000	Enhancers	Fetal Muscle Trunk	muscle
12	chr1:247288800-247289200	ZNF genes & repeats	A549	lung
13	chr1:247288800-247294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:247289000-247289200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:247289000-247289200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:247289000-247289200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:247289000-247289400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr1:247289000-247289400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:247289000-247289400	Enhancers	Dnd41	blood
20	chr1:247289200-247289400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:247289200-247289400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:247289200-247289400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:247289200-247289400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:247289200-247289400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:247289200-247290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:247289200-247291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:247289200-247291000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:247289200-247293200	Weak transcription	A549	lung
29	chr1:247289200-247294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:247289400-247290800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:247289400-247291000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:247289400-247291000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:247289400-247291000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:247289400-247291000	Weak transcription	Dnd41	blood
35	chr1:247289400-247293600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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