Variant report

Variant	nsv591244
Chromosome Location	chr3:105438320-105495841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:105438428..105441312-chr3:105441392..105443154,2	K562	blood:
2	chr3:105452868..105454661-chr3:105463117..105465166,2	K562	blood:
3	chr3:105481713..105484437-chr7:147483253..147485905,2	MCF-7	breast:
4	chr3:105452868..105454661-chr3:105463117..105465166,2	K562	blood:
5	chr3:105438428..105441312-chr3:105441392..105443154,2	K562	blood:
6	chr3:105435086..105438281-chr3:105439598..105442695,3	MCF-7	breast:

Extended variants
information (count: 2237 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2237 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs726443	chr3:105438320-105438321	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375460812	chr3:105438346-105438347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574158249	chr3:105438383-105438384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535089147	chr3:105438449-105438450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116610609	chr3:105438470-105438471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56340106	chr3:105438475-105438476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs726444	chr3:105438538-105438539	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs536263121	chr3:105438549-105438550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544136557	chr3:105438553-105438554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139770262	chr3:105438585-105438586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565418662	chr3:105438599-105438600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186905851	chr3:105438613-105438614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541604462	chr3:105438615-105438616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571629457	chr3:105438646-105438647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559897468	chr3:105438647-105438648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530172134	chr3:105438664-105438665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139913298	chr3:105438675-105438676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563744910	chr3:105438682-105438683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141901010	chr3:105438707-105438708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552469382	chr3:105438728-105438729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7624400	chr3:105438806-105438807	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs9657908	chr3:105438829-105438830	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146273949	chr3:105438847-105438848	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546347309	chr3:105438872-105438873	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368171296	chr3:105438883-105438884	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567817486	chr3:105438895-105438896	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535219619	chr3:105438896-105438897	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371993076	chr3:105438899-105438900	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56009631	chr3:105438900-105438901	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61758360	chr3:105438902-105438903	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114461789	chr3:105438920-105438921	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201419253	chr3:105438934-105438935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377118360	chr3:105438947-105438948	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2305036	chr3:105438957-105438958	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs368162566	chr3:105438964-105438965	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78838054	chr3:105438982-105438983	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112712946	chr3:105438989-105438990	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116474782	chr3:105438994-105438995	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372784321	chr3:105438996-105438997	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77464930	chr3:105438998-105438999	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149831740	chr3:105439007-105439008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377304294	chr3:105439008-105439009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2305035	chr3:105439026-105439027	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs370027125	chr3:105439032-105439033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114713073	chr3:105439062-105439063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112901961	chr3:105439072-105439073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9657909	chr3:105439089-105439090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371507617	chr3:105439092-105439093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375755093	chr3:105439115-105439116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs41305839	chr3:105439145-105439146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Renal cell carcinoma	21668985	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
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1799 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
5	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
6	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
7	chr3:105394200-105438800	Weak transcription	NHEK	skin
8	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:105407800-105457800	Weak transcription	HepG2	liver
10	chr3:105408400-105440400	Weak transcription	A549	lung
11	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:105419200-105439200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:105421200-105438800	Weak transcription	Esophagus	oesophagus
17	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
19	chr3:105421400-105443000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:105422000-105441400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:105423200-105438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:105425400-105442400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:105429800-105441200	Strong transcription	Osteobl	bone
24	chr3:105430600-105440200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:105430800-105439000	Strong transcription	Primary B cells from cord blood	blood
26	chr3:105431200-105439000	Strong transcription	Fetal Lung	lung
27	chr3:105431200-105439200	Strong transcription	Placenta	Placenta
28	chr3:105431600-105439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:105432000-105439400	Strong transcription	Primary T cells from cord blood	blood
30	chr3:105432000-105439400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:105432000-105439800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:105432200-105439000	Strong transcription	HSMM	muscle
33	chr3:105432200-105439200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:105432200-105441600	Strong transcription	Left Ventricle	heart
35	chr3:105432400-105439000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr3:105432400-105439200	Strong transcription	Adipose Nuclei	Adipose
37	chr3:105432400-105439200	Strong transcription	Fetal Intestine Large	intestine
38	chr3:105432400-105439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:105433600-105438800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:105433800-105445400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:105434400-105446600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:105434800-105438400	Weak transcription	Pancreas	Pancrea
45	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:105435000-105439000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:105435000-105439200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:105435000-105439200	Strong transcription	NHDF-Ad	bronchial
49	chr3:105435000-105440400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:105435400-105440400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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