Variant report

Variant	esv3381593
Chromosome Location	chr3:51448392-51449830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51431570..51433213-chr3:51447794..51449393,2	K562	blood:
2	chr3:51432446..51436234-chr3:51447600..51449947,3	MCF-7	breast:
3	chr3:51440734..51444563-chr3:51445176..51449040,4	K562	blood:
4	chr3:51430737..51433070-chr3:51447893..51450283,2	K562	blood:
5	chr3:51446382..51449018-chr3:51464481..51466257,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201263670	chr3:51448416-51448417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533749562	chr3:51448429-51448430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141788979	chr3:51448438-51448439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556234947	chr3:51448486-51448487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9853900	chr3:51448512-51448513	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145434050	chr3:51448518-51448519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557485127	chr3:51448554-51448555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575762140	chr3:51448564-51448565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546408397	chr3:51448588-51448589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564400856	chr3:51448590-51448591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568008267	chr3:51448617-51448618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573046035	chr3:51448625-51448626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34717080	chr3:51448655-51448656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112709411	chr3:51448666-51448667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555371847	chr3:51448692-51448693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149136382	chr3:51448731-51448732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116130467	chr3:51448733-51448734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143244444	chr3:51448756-51448757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58836277	chr3:51448777-51448778	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562669652	chr3:51448822-51448823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532966970	chr3:51448845-51448846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75648288	chr3:51448880-51448881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59891388	chr3:51448881-51448882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368395883	chr3:51448886-51448887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551582562	chr3:51448959-51448960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192929103	chr3:51448962-51448963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61419317	chr3:51449025-51449026	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533917664	chr3:51449099-51449100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548960221	chr3:51449129-51449130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546348826	chr3:51449192-51449193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564498398	chr3:51449206-51449207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76473407	chr3:51449241-51449242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146803741	chr3:51449289-51449290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557352439	chr3:51449292-51449293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575918649	chr3:51449333-51449334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539639917	chr3:51449382-51449383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139921856	chr3:51449398-51449399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371326646	chr3:51449401-51449402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140617653	chr3:51449541-51449542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199798707	chr3:51449562-51449563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184991155	chr3:51449646-51449647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540331005	chr3:51449727-51449728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370900217	chr3:51449793-51449794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561718640	chr3:51449798-51449799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51430200-51457000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51431400-51471200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:51432000-51455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:51432200-51450000	Weak transcription	Small Intestine	intestine
5	chr3:51432400-51460000	Strong transcription	Liver	Liver
6	chr3:51432800-51453000	Weak transcription	Psoas Muscle	Psoas
7	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
8	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr3:51434200-51456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:51434200-51460200	Strong transcription	Dnd41	blood
11	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:51434400-51457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:51434600-51450000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
15	chr3:51434800-51449200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:51435600-51460200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:51436600-51451400	Weak transcription	Fetal Brain Male	brain
19	chr3:51436600-51461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:51436800-51449800	Weak transcription	Right Ventricle	heart
21	chr3:51436800-51461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:51437800-51460000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:51440000-51460200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:51440800-51478200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr3:51441000-51449400	Weak transcription	Brain Substantia Nigra	brain
27	chr3:51441000-51449800	Weak transcription	A549	lung
28	chr3:51441000-51452200	Weak transcription	Aorta	Aorta
29	chr3:51441000-51453400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:51441000-51460200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:51441200-51449200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:51441200-51449600	Weak transcription	HUVEC	blood vessel
33	chr3:51441200-51451400	Weak transcription	Fetal Kidney	kidney
34	chr3:51441200-51452000	Weak transcription	NHLF	lung
35	chr3:51441600-51449000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:51441600-51461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:51441800-51449600	Weak transcription	K562	blood
38	chr3:51441800-51450200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:51442200-51450400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:51443200-51449800	Weak transcription	Colonic Mucosa	Colon
41	chr3:51444000-51460600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:51444000-51461200	Strong transcription	Placenta	Placenta
43	chr3:51444400-51449200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:51444800-51449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:51444800-51460000	Strong transcription	Primary T cells from cord blood	blood
46	chr3:51444800-51477800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:51445400-51450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:51445400-51450000	Strong transcription	HepG2	liver
49	chr3:51445400-51460400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:51445400-51478400	Strong transcription	Primary B cells from peripheral blood	blood

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