Variant report

Variant	nsv822221
Chromosome Location	chr3:113135096-113135541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369453821	chr3:113135195-113135196	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144600353	chr3:113135211-113135212	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369386205	chr3:113135270-113135271	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376773330	chr3:113135277-113135278	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs553390350	chr3:113135287-113135288	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs578111345	chr3:113135292-113135293	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187153186	chr3:113135312-113135313	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371789629	chr3:113135342-113135343	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12635786	chr3:113135345-113135346	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs575564248	chr3:113135364-113135365	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373129414	chr3:113135385-113135386	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138725993	chr3:113135406-113135407	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542888750	chr3:113135414-113135415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375438342	chr3:113135447-113135448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561365425	chr3:113135485-113135486	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192070799	chr3:113135509-113135510	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79830512	chr3:113135513-113135514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375543955	chr3:113135520-113135521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Ductal carcinoma	22052326	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113074400-113184400	Weak transcription	Hela-S3	cervix
2	chr3:113080800-113143800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:113099600-113144800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:113102200-113148800	Weak transcription	Brain Angular Gyrus	brain
5	chr3:113102400-113144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:113106800-113143600	Weak transcription	Dnd41	blood
7	chr3:113107000-113137000	Weak transcription	Esophagus	oesophagus
8	chr3:113107200-113145200	Weak transcription	Aorta	Aorta
9	chr3:113107600-113138200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:113109200-113159800	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:113111600-113146400	Weak transcription	Brain Substantia Nigra	brain
12	chr3:113112200-113148400	Weak transcription	Brain Anterior Caudate	brain
13	chr3:113113000-113145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:113114000-113143800	Weak transcription	Fetal Thymus	thymus
15	chr3:113117600-113148400	Weak transcription	Placenta	Placenta
16	chr3:113119600-113145200	Weak transcription	Lung	lung
17	chr3:113122400-113138400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:113122400-113144800	Weak transcription	Pancreas	Pancrea
19	chr3:113122800-113138000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:113122800-113138600	Weak transcription	Primary B cells from cord blood	blood
21	chr3:113122800-113144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:113122800-113144000	Weak transcription	Thymus	Thymus
23	chr3:113122800-113144800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:113123000-113143600	Weak transcription	Left Ventricle	heart
25	chr3:113123000-113144400	Weak transcription	HSMM	muscle
26	chr3:113123200-113143800	Weak transcription	Ovary	ovary
27	chr3:113123600-113143200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:113124600-113143600	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:113125000-113138000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:113129000-113142600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:113132600-113146400	Weak transcription	Right Ventricle	heart
32	chr3:113132800-113137800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:113133200-113147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:113133400-113138600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:113133400-113144600	Weak transcription	NH-A	brain
36	chr3:113133600-113135400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:113133600-113135400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:113133800-113135200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:113133800-113135400	Strong transcription	Liver	Liver
40	chr3:113134000-113135400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:113134000-113138600	Weak transcription	GM12878-XiMat	blood
42	chr3:113134000-113144000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:113134000-113144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:113134200-113135400	Strong transcription	Fetal Kidney	kidney
45	chr3:113134200-113135600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:113134200-113136000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:113134200-113137600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:113134200-113143600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:113134400-113135200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:113134400-113135400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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