Variant report

Variant	nsv1010549
Chromosome Location	chr3:146751479-146801727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZIC4-5	chr3:146761390-146761517	NONHSAT092573
2	lnc-ZIC4-5	chr3:146760793-146761118	NONHSAT092573

Extended variants
information (count: 755 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556887626	chr3:146753237-146753238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377128752	chr3:146753269-146753270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531771048	chr3:146753270-146753271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549903473	chr3:146753271-146753272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576854569	chr3:146753376-146753377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs373728559	chr3:146753415-146753416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565154900	chr3:146753434-146753435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79964943	chr3:146753450-146753451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574388944	chr3:146753457-146753458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143384880	chr3:146753470-146753471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190327614	chr3:146753490-146753491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532531361	chr3:146753519-146753520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552002596	chr3:146753527-146753528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549404045	chr3:146753584-146753585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562349233	chr3:146753588-146753589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531463093	chr3:146753612-146753613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548481539	chr3:146753614-146753615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182616409	chr3:146753621-146753622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550757037	chr3:146753632-146753633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551580021	chr3:146753635-146753636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377060377	chr3:146753641-146753642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568336159	chr3:146753680-146753681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116245641	chr3:146753684-146753685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547558291	chr3:146753685-146753686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74345687	chr3:146753692-146753693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537132029	chr3:146753704-146753705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140498047	chr3:146753713-146753714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77077661	chr3:146753718-146753719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556746954	chr3:146753757-146753758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138684211	chr3:146753795-146753796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115175499	chr3:146753802-146753803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556044272	chr3:146753822-146753823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113780257	chr3:146753826-146753827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116695651	chr3:146753854-146753855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112959663	chr3:146753871-146753872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559804372	chr3:146753892-146753893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142893081	chr3:146753905-146753906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150809631	chr3:146753912-146753913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191368384	chr3:146753926-146753927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562311769	chr3:146753971-146753972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182688744	chr3:146753979-146753980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113866662	chr3:146754030-146754031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569362697	chr3:146754058-146754059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562050215	chr3:146754062-146754063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187857724	chr3:146754066-146754067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77161884	chr3:146754083-146754084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192661624	chr3:146754139-146754140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570861033	chr3:146754219-146754220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539899613	chr3:146754229-146754230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373596394	chr3:146754241-146754242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146753200-146753400	ZNF genes & repeats	Pancreas	Pancrea
2	chr3:146753400-146755400	Weak transcription	Pancreas	Pancrea
3	chr3:146755600-146755800	Enhancers	NHDF-Ad	bronchial
4	chr3:146755800-146756200	Flanking Active TSS	NHDF-Ad	bronchial
5	chr3:146755800-146756400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:146756000-146756200	Enhancers	Osteobl	bone
7	chr3:146756000-146756800	Enhancers	HSMM	muscle
8	chr3:146767200-146767400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:146767400-146767600	Enhancers	NHDF-Ad	bronchial
10	chr3:146767400-146768000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:146767400-146768000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:146767400-146768200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:146767400-146768200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:146767600-146767800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:146767600-146768000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:146767600-146768000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:146767600-146768000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:146767600-146768000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:146767600-146768000	Flanking Active TSS	NHDF-Ad	bronchial
20	chr3:146767800-146768000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:146767800-146768000	Enhancers	NH-A	brain
22	chr3:146768200-146768400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:146775800-146776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:146776400-146776600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:146776400-146778600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:146776600-146777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:146776800-146777400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:146776800-146777600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:146776800-146778000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:146777000-146777200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:146777000-146777400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:146777000-146777400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:146777400-146778600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:146777400-146779200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:146777600-146779200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:146777800-146778000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:146778000-146779000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:146778600-146779400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:146779000-146779200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:146779200-146779600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:146779200-146779800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:146779800-146780400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:146780000-146781200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:146780400-146780600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:146780600-146781000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:146781200-146785600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:146785600-146787200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:146798800-146803200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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