Variant report

Variant	nsv877576
Chromosome Location	chr3:144701909-144803812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:39310342..39312522-chr3:144736797..144739466,2	MCF-7	breast:
2	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
3	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
4	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
5	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
6	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:

Extended variants
information (count: 1293 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534949493	chr3:144702401-144702402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35147204	chr3:144702422-144702423	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530153617	chr3:144702434-144702435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577792685	chr3:144702448-144702449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376851200	chr3:144702464-144702465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183452421	chr3:144702466-144702467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557012331	chr3:144702480-144702481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62273858	chr3:144702523-144702524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs373330717	chr3:144702575-144702576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs578259738	chr3:144702579-144702580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187221119	chr3:144702593-144702594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs560842347	chr3:144702594-144702595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528411836	chr3:144702638-144702639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540517600	chr3:144702704-144702705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565105804	chr3:144702717-144702718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557814201	chr3:144702723-144702724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192149657	chr3:144702727-144702728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550461446	chr3:144702761-144702762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570138276	chr3:144702799-144702800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138889858	chr3:144702856-144702857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548978881	chr3:144702874-144702875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182427889	chr3:144702925-144702926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143354200	chr3:144702949-144702950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566539101	chr3:144702968-144702969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575974958	chr3:144703007-144703008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77319532	chr3:144703036-144703037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561841017	chr3:144703066-144703067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571791332	chr3:144703083-144703084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539232330	chr3:144703114-144703115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187884519	chr3:144703123-144703124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557229259	chr3:144703219-144703220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575322865	chr3:144703257-144703258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141628610	chr3:144703276-144703277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546758471	chr3:144703298-144703299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138684030	chr3:144703314-144703315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376731884	chr3:144703323-144703324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573606215	chr3:144703353-144703354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540580780	chr3:144703370-144703371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551045159	chr3:144703387-144703388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565187253	chr3:144703389-144703390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532258921	chr3:144703413-144703414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540838391	chr3:144703463-144703464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73018187	chr3:144703465-144703466	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562508873	chr3:144703471-144703472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531066251	chr3:144703545-144703546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34464291	chr3:144703556-144703557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567367680	chr3:144703570-144703571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144423906	chr3:144703571-144703572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546551531	chr3:144703580-144703581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199646961	chr3:144703597-144703598	Enhancers Weak transcription	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144702400-144702600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:144702600-144703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:144703000-144703400	Enhancers	HMEC	breast
4	chr3:144703000-144704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:144703400-144703600	Weak transcription	HMEC	breast
6	chr3:144703600-144704000	Enhancers	HMEC	breast
7	chr3:144704000-144708600	Weak transcription	HMEC	breast
8	chr3:144704200-144708600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:144704600-144705200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:144704800-144705200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:144704800-144705400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:144708600-144709000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:144708600-144709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:144708600-144709200	Enhancers	HMEC	breast
15	chr3:144708600-144709200	Enhancers	NHDF-Ad	bronchial
16	chr3:144714000-144714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:144714200-144714600	Active TSS	Brain Anterior Caudate	brain
18	chr3:144714400-144714800	Enhancers	Brain Hippocampus Middle	brain
19	chr3:144717800-144722200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:144718400-144718800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:144720000-144721200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:144724800-144725200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:144725200-144725800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:144725800-144726200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:144726200-144731800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:144729400-144730200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:144730200-144736400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:144731800-144732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:144733000-144735400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:144733200-144733600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:144733600-144734800	Enhancers	NHEK	skin
32	chr3:144733800-144734600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr3:144733800-144734800	Enhancers	HMEC	breast
34	chr3:144733800-144734800	Enhancers	HUVEC	blood vessel
35	chr3:144734000-144734600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:144734600-144735400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:144734800-144735200	Weak transcription	HMEC	breast
38	chr3:144734800-144736600	Weak transcription	NHEK	skin
39	chr3:144735200-144735400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:144735200-144735400	Enhancers	HMEC	breast
41	chr3:144735400-144736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:144735400-144736600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:144735400-144736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:144735400-144736800	Weak transcription	HMEC	breast
45	chr3:144736200-144737000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:144736200-144737200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:144736400-144737400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:144736600-144737000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:144736600-144737400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:144736600-144737600	Enhancers	NHEK	skin

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