Variant report

Variant	nsv877574
Chromosome Location	chr3:144681790-144803812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:
2	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
3	chr3:144677268..144680196-chr3:144681533..144683917,2	MCF-7	breast:
4	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
5	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:
6	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
7	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:
8	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
9	chr11:39310342..39312522-chr3:144736797..144739466,2	MCF-7	breast:

No data

Extended variants
information (count: 1397 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1397 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575424438	chr3:144681824-144681825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187438021	chr3:144681860-144681861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79825286	chr3:144681910-144681911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542423190	chr3:144681917-144681918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142929975	chr3:144681928-144681929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541493729	chr3:144681949-144681950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4405957	chr3:144681967-144681968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577925712	chr3:144681999-144682000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112209120	chr3:144682027-144682028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563804708	chr3:144682036-144682037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531053731	chr3:144682065-144682066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116066058	chr3:144682079-144682080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560816448	chr3:144682104-144682105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6795717	chr3:144682120-144682121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151078164	chr3:144682124-144682125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4443219	chr3:144682142-144682143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571236051	chr3:144682147-144682148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538235857	chr3:144682166-144682167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550899557	chr3:144682218-144682219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191445550	chr3:144682243-144682244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561656036	chr3:144682251-144682252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370720863	chr3:144682326-144682327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374164696	chr3:144682327-144682328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35711637	chr3:144682328-144682329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71155832	chr3:144682329-144682330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4452369	chr3:144682383-144682384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141430964	chr3:144682386-144682387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181671484	chr3:144682401-144682402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573049591	chr3:144682422-144682423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535140340	chr3:144682440-144682441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376402812	chr3:144682494-144682495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186206158	chr3:144682498-144682499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190188915	chr3:144682515-144682516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545069167	chr3:144682593-144682594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35990693	chr3:144687211-144687212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534565318	chr3:144687225-144687226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112197696	chr3:144687277-144687278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6764461	chr3:144687280-144687281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs118023578	chr3:144687291-144687292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145920319	chr3:144687342-144687343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138944690	chr3:144687345-144687346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73018149	chr3:144687346-144687347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543829075	chr3:144687359-144687360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562021257	chr3:144687387-144687388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529613636	chr3:144687418-144687419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6788713	chr3:144687428-144687429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76835102	chr3:144687440-144687441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115033511	chr3:144687454-144687455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4568183	chr3:144687485-144687486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569405297	chr3:144687507-144687508	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144681800-144682600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:144682000-144682400	Enhancers	Fetal Muscle Leg	muscle
3	chr3:144687200-144689000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:144702400-144702600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:144702600-144703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:144703000-144703400	Enhancers	HMEC	breast
7	chr3:144703000-144704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:144703400-144703600	Weak transcription	HMEC	breast
9	chr3:144703600-144704000	Enhancers	HMEC	breast
10	chr3:144704000-144708600	Weak transcription	HMEC	breast
11	chr3:144704200-144708600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:144704600-144705200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:144704800-144705200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:144704800-144705400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:144708600-144709000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:144708600-144709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:144708600-144709200	Enhancers	HMEC	breast
18	chr3:144708600-144709200	Enhancers	NHDF-Ad	bronchial
19	chr3:144714000-144714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:144714200-144714600	Active TSS	Brain Anterior Caudate	brain
21	chr3:144714400-144714800	Enhancers	Brain Hippocampus Middle	brain
22	chr3:144717800-144722200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:144718400-144718800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:144720000-144721200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:144724800-144725200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:144725200-144725800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:144725800-144726200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:144726200-144731800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:144729400-144730200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:144730200-144736400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:144731800-144732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:144733000-144735400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:144733200-144733600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:144733600-144734800	Enhancers	NHEK	skin
35	chr3:144733800-144734600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:144733800-144734800	Enhancers	HMEC	breast
37	chr3:144733800-144734800	Enhancers	HUVEC	blood vessel
38	chr3:144734000-144734600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:144734600-144735400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:144734800-144735200	Weak transcription	HMEC	breast
41	chr3:144734800-144736600	Weak transcription	NHEK	skin
42	chr3:144735200-144735400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:144735200-144735400	Enhancers	HMEC	breast
44	chr3:144735400-144736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:144735400-144736600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:144735400-144736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:144735400-144736800	Weak transcription	HMEC	breast
48	chr3:144736200-144737000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:144736200-144737200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:144736400-144737400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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