Variant report

Variant	nsv822226
Chromosome Location	chr3:118621434-118622945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118621808..118624756-chr3:118628385..118630071,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375343880	chr3:118621439-118621440	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143837667	chr3:118621443-118621444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567096057	chr3:118621450-118621451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377582884	chr3:118621465-118621466	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146853299	chr3:118621466-118621467	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541506584	chr3:118621468-118621469	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181159066	chr3:118621474-118621475	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34908332	chr3:118621500-118621501	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34414843	chr3:118621523-118621524	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565614597	chr3:118621538-118621539	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369634107	chr3:118621544-118621545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151105053	chr3:118621568-118621569	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140957801	chr3:118621612-118621613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36052974	chr3:118621664-118621665	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs367804123	chr3:118621669-118621670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374674136	chr3:118621704-118621705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145775359	chr3:118621712-118621713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371949035	chr3:118621713-118621714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141633373	chr3:118621715-118621716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375705511	chr3:118621719-118621720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562855599	chr3:118621743-118621744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117543039	chr3:118621746-118621747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201212439	chr3:118621752-118621753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369831139	chr3:118621777-118621778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147053288	chr3:118621778-118621779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35709777	chr3:118621782-118621783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373302084	chr3:118621788-118621789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35354275	chr3:118621809-118621810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140117558	chr3:118621816-118621817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73185803	chr3:118621833-118621834	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552077032	chr3:118621841-118621842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369198759	chr3:118621850-118621851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372988237	chr3:118621859-118621860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147109261	chr3:118621952-118621953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138581920	chr3:118621998-118621999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113252006	chr3:118622002-118622003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58464946	chr3:118622209-118622210	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567731107	chr3:118622280-118622281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186101511	chr3:118622301-118622302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553843779	chr3:118622325-118622326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572038462	chr3:118622349-118622350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540870150	chr3:118622363-118622364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188907872	chr3:118622385-118622386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28392691	chr3:118622411-118622412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78958309	chr3:118622471-118622472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563148437	chr3:118622472-118622473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11922638	chr3:118622473-118622474	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76426850	chr3:118622503-118622504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560675570	chr3:118622515-118622516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572017159	chr3:118622564-118622565	Weak transcription Strong transcription	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
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
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118612200-118625600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:118614200-118625000	Weak transcription	Aorta	Aorta
3	chr3:118618200-118623400	Strong transcription	Brain Hippocampus Middle	brain
4	chr3:118619200-118623000	Weak transcription	Primary T cells from cord blood	blood
5	chr3:118619800-118624600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:118619800-118625000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:118619800-118651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:118620200-118622000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:118620200-118625400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:118620200-118627200	Weak transcription	Fetal Brain Female	brain
11	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
12	chr3:118620400-118622800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:118620400-118625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:118621000-118621800	Strong transcription	Brain Germinal Matrix	brain
15	chr3:118621000-118622200	Strong transcription	Ovary	ovary
16	chr3:118621000-118623400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:118621400-118621600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:118621400-118621800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr3:118621400-118621800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:118621400-118622000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:118621400-118623000	Strong transcription	Brain Angular Gyrus	brain
22	chr3:118621400-118623400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr3:118621400-118623400	Strong transcription	Brain Substantia Nigra	brain
24	chr3:118621400-118624000	Strong transcription	Brain Anterior Caudate	brain
25	chr3:118621400-118626800	Weak transcription	A549	lung
26	chr3:118621800-118622600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:118621800-118622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:118621800-118630200	Weak transcription	Brain Germinal Matrix	brain
29	chr3:118622000-118624800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:118622000-118644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:118622200-118625000	Weak transcription	Ovary	ovary
32	chr3:118622600-118623400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr3:118622600-118623400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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