Variant report

Variant	nsv591964
Chromosome Location	chr3:146731231-146907198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146837603..146838491-chr3:146909373..146910222,2	MCF-7	breast:
2	chr3:146862726..146863568-chr7:549720..550401,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZIC4-5	chr3:146760793-146761118	NONHSAT092573
2	lnc-ZIC4-3	chr3:146874252-146874348	ENSG00000243620.1
3	lnc-ZIC4-5	chr3:146761390-146761517	NONHSAT092573

Extended variants
information (count: 2267 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2267 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138230103	chr3:146733006-146733007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111996598	chr3:146733045-146733046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558248237	chr3:146733170-146733171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571802504	chr3:146733191-146733192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143796269	chr3:146733203-146733204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190004104	chr3:146733210-146733211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574267768	chr3:146733284-146733285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542912455	chr3:146733386-146733387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528040882	chr3:146738250-146738251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183780775	chr3:146738270-146738271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150470763	chr3:146738317-146738318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138339886	chr3:146738360-146738361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143296547	chr3:146738377-146738378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561842872	chr3:146748059-146748060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572125560	chr3:146748080-146748081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374081104	chr3:146748099-146748100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17497008	chr3:146748180-146748181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74635815	chr3:146748239-146748240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182995126	chr3:146748389-146748390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185771413	chr3:146748403-146748404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563630054	chr3:146748442-146748443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529329758	chr3:146748480-146748481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559481605	chr3:146748503-146748504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533493431	chr3:146748528-146748529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36030702	chr3:146748554-146748555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368668741	chr3:146748577-146748578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566201258	chr3:146748618-146748619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372105287	chr3:146748637-146748638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62275317	chr3:146748697-146748698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374616209	chr3:146748698-146748699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148004553	chr3:146748713-146748714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3073162	chr3:146748722-146748723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35523652	chr3:146748723-146748724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147211840	chr3:146748730-146748731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13074094	chr3:146748738-146748739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537306941	chr3:146748739-146748740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13074407	chr3:146748740-146748741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533178373	chr3:146748742-146748743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13074232	chr3:146748750-146748751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13074564	chr3:146748752-146748753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199862888	chr3:146748797-146748798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34526843	chr3:146748799-146748800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs66530477	chr3:146748800-146748801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149314680	chr3:146748848-146748849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551282013	chr3:146748884-146748885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569281227	chr3:146748924-146748925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117552689	chr3:146748970-146748971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76107817	chr3:146748998-146748999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34172065	chr3:146749076-146749077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34013856	chr3:146749079-146749080	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146733000-146733400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr3:146738200-146738400	Enhancers	Pancreas	Pancrea
3	chr3:146748000-146748600	Enhancers	HSMM	muscle
4	chr3:146748200-146749600	Enhancers	Dnd41	blood
5	chr3:146748600-146749000	Enhancers	Colon Smooth Muscle	Colon
6	chr3:146753200-146753400	ZNF genes & repeats	Pancreas	Pancrea
7	chr3:146753400-146755400	Weak transcription	Pancreas	Pancrea
8	chr3:146755600-146755800	Enhancers	NHDF-Ad	bronchial
9	chr3:146755800-146756200	Flanking Active TSS	NHDF-Ad	bronchial
10	chr3:146755800-146756400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:146756000-146756200	Enhancers	Osteobl	bone
12	chr3:146756000-146756800	Enhancers	HSMM	muscle
13	chr3:146767200-146767400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:146767400-146767600	Enhancers	NHDF-Ad	bronchial
15	chr3:146767400-146768000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:146767400-146768000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:146767400-146768200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:146767400-146768200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:146767600-146767800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:146767600-146768000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:146767600-146768000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:146767600-146768000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:146767600-146768000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:146767600-146768000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr3:146767800-146768000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:146767800-146768000	Enhancers	NH-A	brain
27	chr3:146768200-146768400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:146775800-146776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:146776400-146776600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:146776400-146778600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:146776600-146777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:146776800-146777400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:146776800-146777600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:146776800-146778000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:146777000-146777200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr3:146777000-146777400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:146777000-146777400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:146777400-146778600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:146777400-146779200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:146777600-146779200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:146777800-146778000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:146778000-146779000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:146778600-146779400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr3:146779000-146779200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:146779200-146779600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:146779200-146779800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:146779800-146780400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:146780000-146781200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:146780400-146780600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:146780600-146781000	Enhancers	Cortex derived primary cultured neurospheres	brain

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