Variant report

Variant	esv3397719
Chromosome Location	chr3:47090398-47092646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:47092191-47092322	K562	blood:	n/a	n/a
2	IRF1	chr3:47091873-47091878	K562	blood:	n/a	n/a
3	MYC	chr3:47092626-47092750	MCF-7	breast:	n/a	n/a
4	POLR2A	chr3:47092628-47092837	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:47092626-47092712	K562	blood:	n/a	n/a
6	SPI1	chr3:47092067-47092361	HL-60	blood:	n/a	n/a
7	STAT3	chr3:47092037-47092215	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47081998..47084579-chr3:47088555..47090930,2	K562	blood:

Variant related genes	Relation type
SETD2	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570041673	chr3:47090401-47090402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148980103	chr3:47090446-47090447	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142899262	chr3:47090448-47090449	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71619671	chr3:47090453-47090454	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556724999	chr3:47090466-47090467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188622003	chr3:47090506-47090507	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76684809	chr3:47090575-47090576	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146609609	chr3:47090581-47090582	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572576647	chr3:47090591-47090592	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540443906	chr3:47090642-47090643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72913651	chr3:47090661-47090662	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140868790	chr3:47090674-47090675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544886792	chr3:47090675-47090676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75826681	chr3:47090737-47090738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180712777	chr3:47090742-47090743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115308495	chr3:47090743-47090744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72330396	chr3:47090795-47090796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376828024	chr3:47090813-47090814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55952850	chr3:47090835-47090836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71098445	chr3:47090880-47090881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560582368	chr3:47090964-47090965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369291760	chr3:47090988-47090989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527743437	chr3:47091058-47091059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546817528	chr3:47091062-47091063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568255522	chr3:47091065-47091066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529217035	chr3:47091124-47091125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550838272	chr3:47091144-47091145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9311398	chr3:47091201-47091202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36154120	chr3:47091205-47091206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113977826	chr3:47091221-47091222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186102244	chr3:47091252-47091253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139116857	chr3:47091287-47091288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67779644	chr3:47091288-47091289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539442682	chr3:47091304-47091305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36168306	chr3:47091310-47091311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs36194162	chr3:47091337-47091338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36187504	chr3:47091343-47091344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192207851	chr3:47091345-47091346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13059883	chr3:47091346-47091347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7426969	chr3:47091355-47091356	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs182334394	chr3:47091357-47091358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9810327	chr3:47091365-47091366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9810332	chr3:47091372-47091373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533596367	chr3:47091373-47091374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554274948	chr3:47091375-47091376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13059908	chr3:47091402-47091403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541512908	chr3:47091403-47091404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57707151	chr3:47091404-47091405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139539296	chr3:47091405-47091406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397974796	chr3:47091409-47091410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47078800-47101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:47079400-47095800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
5	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:47079800-47095000	Weak transcription	HMEC	breast
7	chr3:47079800-47098000	Weak transcription	Aorta	Aorta
8	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:47080000-47095200	Weak transcription	Fetal Brain Male	brain
10	chr3:47083000-47098000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:47083000-47098000	Weak transcription	A549	lung
12	chr3:47083000-47098400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:47083000-47106400	Weak transcription	Colonic Mucosa	Colon
14	chr3:47083200-47097800	Weak transcription	Gastric	stomach
15	chr3:47083200-47098000	Weak transcription	Brain Germinal Matrix	brain
16	chr3:47083200-47098000	Weak transcription	Ovary	ovary
17	chr3:47083200-47098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
19	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
21	chr3:47083800-47097600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:47083800-47097600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:47083800-47097800	Weak transcription	Fetal Brain Female	brain
24	chr3:47083800-47098000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:47083800-47098200	Weak transcription	NHLF	lung
26	chr3:47084000-47098000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:47084200-47093800	Weak transcription	Esophagus	oesophagus
28	chr3:47084200-47094600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:47084200-47097800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:47084200-47097800	Weak transcription	Spleen	Spleen
31	chr3:47084200-47098000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:47084200-47098000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:47084200-47098200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:47084200-47098200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:47084200-47098200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:47084200-47098200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:47084200-47098400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:47084200-47102800	Weak transcription	HUVEC	blood vessel
39	chr3:47084400-47097800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:47084400-47104800	Weak transcription	Fetal Kidney	kidney
41	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
42	chr3:47084800-47097800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr3:47084800-47098000	Weak transcription	Fetal Lung	lung
44	chr3:47085200-47095000	Weak transcription	Osteobl	bone
45	chr3:47085400-47094800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:47086400-47095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:47086600-47093400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:47086600-47093400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:47086600-47094600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:47086600-47094800	Weak transcription	HepG2	liver

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