Variant report

Variant	nsv591966
Chromosome Location	chr3:146889655-146960105
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:146837603..146838491-chr3:146909373..146910222,2	MCF-7	breast:
2	chr3:146913438..146915212-chr3:146916784..146918446,2	K562	blood:
3	chr3:146535974..146536861-chr3:146909343..146910183,2	MCF-7	breast:
4	chr3:146939853..146941518-chr3:146941537..146943965,2	MCF-7	breast:
5	chr17:57917946..57920609-chr3:146956413..146958637,2	MCF-7	breast:
6	chr3:146939853..146941518-chr3:146941537..146943965,2	MCF-7	breast:
7	chr3:146358593..146359753-chr3:146909192..146910187,4	MCF-7	breast:
8	chr3:146954476..146956486-chr3:146962174..146964713,2	K562	blood:
9	chr3:146953803..146956726-chr3:146957631..146959425,2	MCF-7	breast:
10	chr3:146540807..146541687-chr3:146910591..146911284,2	MCF-7	breast:
11	chr3:146953803..146956726-chr3:146957631..146959425,2	MCF-7	breast:
12	chr3:146950111..146951666-chr3:146961161..146963024,2	K562	blood:
13	chr3:146913438..146915212-chr3:146916784..146918446,2	K562	blood:
14	chr3:146465618..146466350-chr3:146909313..146909963,2	MCF-7	breast:
15	chr3:146957120..146959443-chr3:146960985..146963981,2	K562	blood:
16	chr3:146535264..146535780-chr3:146909367..146910281,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199004	chromatin interactions

Extended variants
information (count: 769 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112872032	chr3:146900430-146900431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532994717	chr3:146900441-146900442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549773536	chr3:146900457-146900458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569769846	chr3:146900478-146900479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535499453	chr3:146900483-146900484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561694990	chr3:146900588-146900589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142631492	chr3:146900594-146900595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17565138	chr3:146900595-146900596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557801237	chr3:146900609-146900610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16859169	chr3:146900611-146900612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530511363	chr3:146900715-146900716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537070983	chr3:146900773-146900774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549973848	chr3:146900780-146900781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568571054	chr3:146900794-146900795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556890971	chr3:146900798-146900799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371934249	chr3:146900833-146900834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117895223	chr3:146900835-146900836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535909425	chr3:146900836-146900837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542756001	chr3:146900863-146900864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566186750	chr3:146900888-146900889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112383290	chr3:146900891-146900892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559796858	chr3:146900922-146900923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374110039	chr3:146900943-146900944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573387769	chr3:146900981-146900982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189838524	chr3:146901091-146901092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375236346	chr3:146901101-146901102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76755506	chr3:146901197-146901198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539575575	chr3:146901224-146901225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565985156	chr3:146901245-146901246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543448868	chr3:146901288-146901289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563310933	chr3:146901306-146901307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182121949	chr3:146901345-146901346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548832916	chr3:146901422-146901423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369196903	chr3:146901440-146901441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539797689	chr3:146901471-146901472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372969603	chr3:146901476-146901477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528289157	chr3:146901484-146901485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551526035	chr3:146901550-146901551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375570371	chr3:146901553-146901554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187932976	chr3:146901558-146901559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369020841	chr3:146901565-146901566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536907046	chr3:146901579-146901580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150594815	chr3:146901617-146901618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576644963	chr3:146901706-146901707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567371938	chr3:146901740-146901741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76136467	chr3:146901743-146901744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139648393	chr3:146901751-146901752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573256591	chr3:146901785-146901786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545272359	chr3:146901794-146901795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372073696	chr3:146901806-146901807	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146900400-146904200	Enhancers	HepG2	liver
2	chr3:146902200-146904200	Enhancers	Liver	Liver
3	chr3:146904200-146904600	Weak transcription	Liver	Liver
4	chr3:146904200-146905400	Weak transcription	HepG2	liver
5	chr3:146904600-146906000	Enhancers	Liver	Liver
6	chr3:146905400-146907200	Enhancers	HepG2	liver
7	chr3:146906400-146906800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:146906400-146907200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:146906400-146907600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:146906800-146907200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:146907200-146912400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:146907600-146912600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:146909800-146910000	Enhancers	Left Ventricle	heart
14	chr3:146912400-146913800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:146912600-146913600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:146913200-146913800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:146913600-146914200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:146914200-146917800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:146917800-146918400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:146918000-146918400	Enhancers	Osteobl	bone
21	chr3:146923000-146923600	Enhancers	Dnd41	blood
22	chr3:146928800-146929600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:146933800-146934600	Enhancers	GM12878-XiMat	blood
24	chr3:146936600-146937200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:146936600-146937200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:146936600-146937200	Enhancers	Cortex derived primary cultured neurospheres	brain

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