Variant report

Variant	esv3386423
Chromosome Location	chr3:47244248-47250946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47244351..47246647-chr3:47288782..47291421,2	K562	blood:
2	chr3:47215840..47217709-chr3:47242966..47244606,2	K562	blood:
3	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:
4	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:
5	chr3:47244578..47247467-chr3:47322927..47324918,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBEAL2-2	chr3:47248261-47248357	refGeneNc_4033_NR_033373

No data

Variant related genes	Relation type
ENSG00000114648	chromatin interactions
ENSG00000088727	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532630232	chr3:47244338-47244339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527920115	chr3:47244343-47244344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151284515	chr3:47244346-47244347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559919063	chr3:47244392-47244393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374468691	chr3:47244448-47244449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140487712	chr3:47244457-47244458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567210156	chr3:47244466-47244467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189738865	chr3:47244470-47244471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549750365	chr3:47244474-47244475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571114297	chr3:47244490-47244491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372230917	chr3:47244515-47244516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538726906	chr3:47244543-47244544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553872873	chr3:47244555-47244556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567006887	chr3:47244564-47244565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180817353	chr3:47244572-47244573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185266428	chr3:47244587-47244588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371738567	chr3:47244632-47244633	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150408720	chr3:47244654-47244655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138123494	chr3:47244669-47244670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565291168	chr3:47244676-47244677	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564815902	chr3:47244681-47244682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11130120	chr3:47244731-47244732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11130121	chr3:47244740-47244741	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577117495	chr3:47244773-47244774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs13063250	chr3:47244820-47244821	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs535660763	chr3:47244850-47244851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs71098463	chr3:47244941-47244942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs13085911	chr3:47244946-47244947	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13085924	chr3:47244964-47244965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs199848251	chr3:47244978-47244979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527519184	chr3:47245021-47245022	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548748581	chr3:47245057-47245058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561077155	chr3:47245099-47245100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112523765	chr3:47245143-47245144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188181051	chr3:47245147-47245148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549760297	chr3:47245164-47245165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571242161	chr3:47245190-47245191	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368376829	chr3:47245200-47245201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547549119	chr3:47245236-47245237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565758469	chr3:47245265-47245266	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536894304	chr3:47245289-47245290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555191752	chr3:47245296-47245297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576521288	chr3:47245303-47245304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181722869	chr3:47245320-47245321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558959414	chr3:47245366-47245367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111909757	chr3:47245367-47245368	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs139015732	chr3:47245487-47245488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553080342	chr3:47245501-47245502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529390035	chr3:47245538-47245539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574592720	chr3:47245636-47245637	Weak transcription	Chromatin interactive region	2 gene(s)	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
2	chr3:47208000-47249600	Weak transcription	Ovary	ovary
3	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:47221000-47250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:47222800-47249000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:47222800-47249400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:47223400-47245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:47223400-47256600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:47223800-47252600	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:47223800-47269200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:47224200-47250200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:47236200-47256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:47236800-47248400	Weak transcription	Brain Angular Gyrus	brain
15	chr3:47238400-47256400	Weak transcription	Right Atrium	heart
16	chr3:47245000-47247000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:47245200-47245600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:47245400-47266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:47247000-47247400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:47247000-47269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:47247400-47249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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