Variant report

Variant	nsv1009393
Chromosome Location	chr3:146726629-146862314
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	chr3:146714192..146714735-chr3:146728166..146728967,2	MCF-7	breast:

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

Variant related genes	Relation type
ENSG00000207156	chromatin interactions

Extended variants
information (count: 1723 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1723 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2102158	chr3:146726629-146726630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567673028	chr3:146726640-146726641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537996150	chr3:146726682-146726683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536839416	chr3:146726716-146726717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553319912	chr3:146726730-146726731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573479444	chr3:146726754-146726755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138610714	chr3:146726795-146726796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530191182	chr3:146726825-146726826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189180200	chr3:146726917-146726918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577189652	chr3:146727020-146727021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543028098	chr3:146727044-146727045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149371957	chr3:146727052-146727053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79497774	chr3:146727055-146727056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542801611	chr3:146727084-146727085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180710122	chr3:146727098-146727099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567295204	chr3:146727117-146727118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185916030	chr3:146727174-146727175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78320743	chr3:146727208-146727209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189506790	chr3:146727223-146727224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74809166	chr3:146727282-146727283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550734540	chr3:146727305-146727306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567727563	chr3:146727309-146727310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71302434	chr3:146727323-146727324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553523377	chr3:146727354-146727355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552729304	chr3:146727356-146727357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566911097	chr3:146727378-146727379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116312591	chr3:146727381-146727382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571201565	chr3:146727408-146727409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558789399	chr3:146727415-146727416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35959684	chr3:146727449-146727450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143834325	chr3:146727487-146727488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147317586	chr3:146727539-146727540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370916288	chr3:146727594-146727595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75965320	chr3:146727595-146727596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559399932	chr3:146727596-146727597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528270079	chr3:146727612-146727613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545241135	chr3:146727625-146727626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77857781	chr3:146727626-146727627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530857107	chr3:146727636-146727637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79640762	chr3:146727640-146727641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561167245	chr3:146727651-146727652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530117760	chr3:146727652-146727653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546733039	chr3:146727717-146727718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536408361	chr3:146727719-146727720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11716799	chr3:146727775-146727776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73868550	chr3:146727827-146727828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143350069	chr3:146727844-146727845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71302435	chr3:146727849-146727850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34835023	chr3:146727885-146727886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7648000	chr3:146727937-146727938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146725200-146727800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:146725600-146727800	Enhancers	NHDF-Ad	bronchial
3	chr3:146726000-146726800	Enhancers	Pancreas	Pancrea
4	chr3:146726000-146727000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:146726000-146727200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:146726000-146727400	Enhancers	HSMM	muscle
7	chr3:146726000-146727600	Enhancers	Osteobl	bone
8	chr3:146726200-146727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:146726800-146727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:146727200-146727400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:146727200-146727600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:146727200-146727600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:146727800-146730400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:146730400-146731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:146733000-146733400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:146738200-146738400	Enhancers	Pancreas	Pancrea
17	chr3:146748000-146748600	Enhancers	HSMM	muscle
18	chr3:146748200-146749600	Enhancers	Dnd41	blood
19	chr3:146748600-146749000	Enhancers	Colon Smooth Muscle	Colon
20	chr3:146753200-146753400	ZNF genes & repeats	Pancreas	Pancrea
21	chr3:146753400-146755400	Weak transcription	Pancreas	Pancrea
22	chr3:146755600-146755800	Enhancers	NHDF-Ad	bronchial
23	chr3:146755800-146756200	Flanking Active TSS	NHDF-Ad	bronchial
24	chr3:146755800-146756400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:146756000-146756200	Enhancers	Osteobl	bone
26	chr3:146756000-146756800	Enhancers	HSMM	muscle
27	chr3:146767200-146767400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:146767400-146767600	Enhancers	NHDF-Ad	bronchial
29	chr3:146767400-146768000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:146767400-146768000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:146767400-146768200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:146767400-146768200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:146767600-146767800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:146767600-146768000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:146767600-146768000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:146767600-146768000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:146767600-146768000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:146767600-146768000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr3:146767800-146768000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:146767800-146768000	Enhancers	NH-A	brain
41	chr3:146768200-146768400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:146775800-146776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:146776400-146776600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:146776400-146778600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:146776600-146777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:146776800-146777400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:146776800-146777600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:146776800-146778000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:146777000-146777200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr3:146777000-146777400	Enhancers	HUES48 Cell Line	embryonic stem cell

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