Variant report

Variant	nsv513063
Chromosome Location	chr3:101161321-101163914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9843186	chr3:101161330-101161331	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534491042	chr3:101161358-101161359	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527348509	chr3:101161365-101161366	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72942246	chr3:101161375-101161376	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544845083	chr3:101161389-101161390	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116218646	chr3:101161397-101161398	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550053574	chr3:101161406-101161407	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62280727	chr3:101161425-101161426	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572003065	chr3:101161447-101161448	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542746486	chr3:101161484-101161485	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79832386	chr3:101161485-101161486	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547734716	chr3:101161491-101161492	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565950111	chr3:101161514-101161515	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547553760	chr3:101161534-101161535	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368431736	chr3:101161554-101161555	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536701923	chr3:101161609-101161610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554810655	chr3:101161624-101161625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187731926	chr3:101161626-101161627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538071526	chr3:101161674-101161675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556473128	chr3:101161689-101161690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs149727694	chr3:101161690-101161691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577980295	chr3:101161713-101161714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531233710	chr3:101161733-101161734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545341483	chr3:101161813-101161814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs541786289	chr3:101161823-101161824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543691406	chr3:101161835-101161836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144452234	chr3:101161838-101161839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192668394	chr3:101161855-101161856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371028466	chr3:101161856-101161857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6806203	chr3:101161863-101161864	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs112918457	chr3:101161870-101161871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532687978	chr3:101161895-101161896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565152542	chr3:101161915-101161916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532625609	chr3:101161981-101161982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184533942	chr3:101162035-101162036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566060411	chr3:101162038-101162039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34128890	chr3:101162061-101162062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548645874	chr3:101162075-101162076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570188539	chr3:101162077-101162078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537562158	chr3:101162085-101162086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556363276	chr3:101162095-101162096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566275103	chr3:101162145-101162146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551818943	chr3:101162151-101162152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577925045	chr3:101162226-101162227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538880728	chr3:101162228-101162229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6781763	chr3:101162270-101162271	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs571999083	chr3:101162300-101162301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371965219	chr3:101162303-101162304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150382386	chr3:101162305-101162306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530129695	chr3:101162310-101162311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101141000-101185600	Weak transcription	Right Ventricle	heart
2	chr3:101146000-101185600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:101154600-101163800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:101157400-101167400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:101158600-101163000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:101158600-101175200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:101158800-101161600	Weak transcription	Colonic Mucosa	Colon
8	chr3:101159000-101161400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:101159600-101162000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:101159800-101161400	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr3:101159800-101161400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr3:101159800-101161400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:101159800-101161400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:101159800-101161400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr3:101159800-101161400	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr3:101159800-101161400	ZNF genes & repeats	Fetal Stomach	stomach
17	chr3:101159800-101161400	ZNF genes & repeats	Lung	lung
18	chr3:101159800-101161400	ZNF genes & repeats	Thymus	Thymus
19	chr3:101159800-101161600	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr3:101159800-101161600	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr3:101159800-101161800	ZNF genes & repeats	Fetal Brain Female	brain
22	chr3:101160000-101161400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:101160000-101161400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:101160000-101161400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:101160000-101161400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:101160000-101161600	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr3:101160000-101161600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr3:101160200-101161400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:101160200-101161400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:101160200-101161400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:101160200-101176200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:101160200-101185600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:101160200-101210800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:101160400-101161400	Strong transcription	Ovary	ovary
35	chr3:101160400-101176000	Weak transcription	Left Ventricle	heart
36	chr3:101160600-101161400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:101160600-101161800	Weak transcription	Brain Angular Gyrus	brain
38	chr3:101160600-101162600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:101160600-101163800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:101160600-101163800	Weak transcription	Liver	Liver
41	chr3:101160600-101164200	Weak transcription	Adipose Nuclei	Adipose
42	chr3:101160600-101176000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:101160600-101183200	Weak transcription	Psoas Muscle	Psoas
44	chr3:101160600-101184000	Weak transcription	Spleen	Spleen
45	chr3:101160600-101185600	Weak transcription	Gastric	stomach
46	chr3:101160800-101163800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:101160800-101163800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:101160800-101166000	Weak transcription	Fetal Lung	lung
49	chr3:101161000-101163200	Weak transcription	Primary T cells from cord blood	blood
50	chr3:101161000-101163800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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