Variant report

Variant	nsv1004480
Chromosome Location	chr3:158102068-158129826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:158120939..158122678-chr3:158123102..158125288,2	MCF-7	breast:
2	chr3:158129475..158131911-chr3:158133397..158135455,2	K562	blood:
3	chr3:158116256..158122460-chr3:158123210..158127846,6	K562	blood:
4	chr3:158100498..158103302-chr3:158106866..158108793,2	K562	blood:
5	chr3:158116256..158122460-chr3:158123210..158127846,6	K562	blood:
6	chr3:158120939..158122678-chr3:158123102..158125288,2	MCF-7	breast:
7	chr3:158100498..158103302-chr3:158106866..158108793,2	K562	blood:

Extended variants
information (count: 670 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28428827	chr3:158102118-158102119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537870073	chr3:158102133-158102134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115374137	chr3:158102140-158102141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183727797	chr3:158102153-158102154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370240331	chr3:158102169-158102170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190498636	chr3:158102218-158102219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529505335	chr3:158102270-158102271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182389930	chr3:158102311-158102312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550765503	chr3:158102312-158102313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374885949	chr3:158102330-158102331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532873507	chr3:158102389-158102390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148953173	chr3:158102407-158102408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558559317	chr3:158102417-158102418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34392351	chr3:158102433-158102434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541980408	chr3:158102447-158102448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369310137	chr3:158102453-158102454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142893880	chr3:158102472-158102473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551222571	chr3:158102535-158102536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566539396	chr3:158102594-158102595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373023839	chr3:158102600-158102601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533790716	chr3:158102699-158102700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548962322	chr3:158102712-158102713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567573957	chr3:158102725-158102726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560092448	chr3:158102732-158102733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538088191	chr3:158102738-158102739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549520285	chr3:158102781-158102782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146539965	chr3:158102788-158102789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185206801	chr3:158102818-158102819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538806592	chr3:158102830-158102831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371490009	chr3:158102847-158102848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557994528	chr3:158102850-158102851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573254653	chr3:158102986-158102987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540242964	chr3:158103033-158103034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569881778	chr3:158103103-158103104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561700387	chr3:158103116-158103117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28608522	chr3:158103128-158103129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116392407	chr3:158103171-158103172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6786849	chr3:158103182-158103183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533388310	chr3:158103215-158103216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190055817	chr3:158103216-158103217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560004753	chr3:158103222-158103223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527338748	chr3:158103233-158103234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548999140	chr3:158103249-158103250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6798405	chr3:158103267-158103268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73170365	chr3:158103274-158103275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79217318	chr3:158103328-158103329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571492628	chr3:158103332-158103333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375771256	chr3:158103358-158103359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553892318	chr3:158103438-158103439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565083056	chr3:158103440-158103441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158100800-158113200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:158104800-158105800	Enhancers	Fetal Heart	heart
3	chr3:158107400-158108000	Enhancers	Stomach Mucosa	stomach
4	chr3:158107600-158107800	Enhancers	Fetal Heart	heart
5	chr3:158107600-158108000	Enhancers	HepG2	liver
6	chr3:158107800-158108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:158108000-158111200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:158108200-158109200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:158109200-158109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:158109200-158110000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:158111600-158112400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:158113200-158114000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:158116000-158116200	Enhancers	Psoas Muscle	Psoas
14	chr3:158121800-158122200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:158122000-158122400	Enhancers	Fetal Heart	heart
16	chr3:158122000-158122600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:158122400-158126000	Weak transcription	Fetal Heart	heart
18	chr3:158123000-158123400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:158123000-158123600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:158123200-158123800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:158123400-158128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:158123600-158124600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:158124600-158124800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:158124600-158125000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:158124600-158146600	Weak transcription	Primary B cells from cord blood	blood
26	chr3:158124800-158125200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:158124800-158126600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:158125000-158126000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:158125200-158125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:158125600-158125800	Enhancers	K562	blood
31	chr3:158125600-158126400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:158125600-158126400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:158125800-158126000	Flanking Active TSS	K562	blood
34	chr3:158125800-158126200	Enhancers	Fetal Lung	lung
35	chr3:158125800-158126400	Enhancers	NHDF-Ad	bronchial
36	chr3:158126000-158126200	Enhancers	K562	blood
37	chr3:158126000-158126400	Enhancers	Fetal Heart	heart
38	chr3:158126000-158126600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:158126200-158126400	Flanking Active TSS	K562	blood
40	chr3:158126400-158128200	Enhancers	K562	blood
41	chr3:158128000-158129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:158128200-158128600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:158128400-158129000	Enhancers	HUES64 Cell Line	embryonic stem cell

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