Variant report

Variant	nsv1012777
Chromosome Location	chr3:120883846-120974864
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	chr3:120875889..120878792-chr3:120892011..120893979,2	K562	blood:

Extended variants
information (count: 3383 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3383 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116794161	chr3:120883852-120883853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544240673	chr3:120883868-120883869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529772222	chr3:120883881-120883882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527330391	chr3:120883883-120883884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546299521	chr3:120883891-120883892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566428551	chr3:120883893-120883894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2331642	chr3:120883923-120883924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs533080539	chr3:120883983-120883984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552449463	chr3:120883993-120883994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569168610	chr3:120883997-120883998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1504538	chr3:120884009-120884010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554736370	chr3:120884030-120884031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188850786	chr3:120884044-120884045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370106988	chr3:120884093-120884094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534274057	chr3:120884121-120884122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532472232	chr3:120884182-120884183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73855346	chr3:120884219-120884220	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546092264	chr3:120884295-120884296	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562892603	chr3:120884374-120884375	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576320903	chr3:120884386-120884387	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144229010	chr3:120884399-120884400	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562279389	chr3:120884400-120884401	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529767080	chr3:120884402-120884403	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78362723	chr3:120884410-120884411	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560190858	chr3:120884413-120884414	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532188241	chr3:120884428-120884429	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552191150	chr3:120884451-120884452	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376226623	chr3:120884458-120884459	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372694420	chr3:120884474-120884475	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76331339	chr3:120884495-120884496	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368062367	chr3:120884497-120884498	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180834615	chr3:120884532-120884533	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186082055	chr3:120884535-120884536	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72966166	chr3:120884544-120884545	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190529926	chr3:120884585-120884586	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7648360	chr3:120884709-120884710	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7615712	chr3:120884717-120884718	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536037307	chr3:120884736-120884737	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368143498	chr3:120884743-120884744	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182192027	chr3:120884760-120884761	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542474167	chr3:120884793-120884794	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537922177	chr3:120884804-120884805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111226007	chr3:120884811-120884812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147062926	chr3:120884817-120884818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78628617	chr3:120884823-120884824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375477806	chr3:120884824-120884825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397740512	chr3:120884828-120884829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370819514	chr3:120884829-120884830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374145218	chr3:120884830-120884831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368704517	chr3:120884831-120884832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120867000-120889000	Weak transcription	Ovary	ovary
2	chr3:120879200-120884400	Weak transcription	K562	blood
3	chr3:120884200-120884800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:120884400-120885200	Enhancers	K562	blood
5	chr3:120885200-120886000	Weak transcription	K562	blood
6	chr3:120886000-120886400	Active TSS	K562	blood
7	chr3:120887000-120887200	Enhancers	K562	blood
8	chr3:120893400-120894000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:120897600-120897800	ZNF genes & repeats	Ovary	ovary
10	chr3:120897800-120914600	Weak transcription	Ovary	ovary
11	chr3:120911200-120911400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr3:120914600-120914800	ZNF genes & repeats	Ovary	ovary
13	chr3:120914600-120916000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr3:120914600-120916800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:120914600-120917000	Weak transcription	Brain Angular Gyrus	brain
16	chr3:120914800-120935400	Weak transcription	Ovary	ovary
17	chr3:120935400-120936400	Strong transcription	Ovary	ovary
18	chr3:120936200-120936400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:120936400-120955800	Weak transcription	Ovary	ovary
20	chr3:120945000-120945200	Enhancers	Brain Anterior Caudate	brain
21	chr3:120945400-120965200	Weak transcription	Brain Anterior Caudate	brain
22	chr3:120950000-120950800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:120950800-120951000	Enhancers	HMEC	breast
24	chr3:120950800-120951800	Enhancers	Pancreas	Pancrea
25	chr3:120951200-120951800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:120951600-120951800	Enhancers	HMEC	breast
27	chr3:120951800-120962600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:120955800-120957000	Strong transcription	Ovary	ovary
29	chr3:120956000-120956600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:120956200-120956600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:120957000-120960200	Weak transcription	Ovary	ovary
32	chr3:120958200-120963800	Weak transcription	Brain Angular Gyrus	brain
33	chr3:120960200-120960600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:120960200-120960600	Strong transcription	Ovary	ovary
35	chr3:120960400-120960800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:120960600-120961600	Weak transcription	Ovary	ovary
37	chr3:120960800-120961800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:120961600-120962000	Strong transcription	Ovary	ovary
39	chr3:120961800-120962200	Enhancers	Hela-S3	cervix
40	chr3:120961800-120963800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:120962000-120993000	Weak transcription	Ovary	ovary
42	chr3:120962400-120962600	Weak transcription	Brain Germinal Matrix	brain
43	chr3:120963000-120963400	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr3:120964800-120965000	Enhancers	Esophagus	oesophagus

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