Variant report

Variant	esv991363
Chromosome Location	chr3:48948411-48951399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:48950520-48950670	GM12874	blood:	n/a	n/a
2	CTCF	chr3:48950560-48950710	GM12878	blood:	n/a	n/a
3	CTCF	chr3:48950560-48950710	GM12873	blood:	n/a	n/a
4	CTCF	chr3:48950480-48950630	HEK293	kidney:	n/a	n/a
5	CTCF	chr3:48950500-48950650	GM12872	blood:	n/a	n/a
6	CTCF	chr3:48950338-48950425	Lung_OC	lung:	n/a	n/a
7	CTCF	chr3:48950520-48950670	GM12867	blood:	n/a	n/a
8	CTCF	chr3:48950480-48950630	GM12873	blood:	n/a	n/a
9	POLR2A	chr3:48949771-48949971	K562	blood:	n/a	n/a
10	POLR2A	chr3:48951196-48951319	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:48950760-48951255	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48945423..48948867-chr3:48951385..48953523,3	K562	blood:
2	chr3:48945423..48948867-chr3:48951385..48953523,3	K562	blood:
3	chr3:48946334..48949013-chr3:48955938..48958514,2	K562	blood:
4	chr3:48948534..48952570-chr3:48954278..48957832,4	MCF-7	breast:

No data

Variant related genes	Relation type
ARIH2	TF binding region
ENSG00000221883	chromatin interactions
ENSG00000177479	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117966410	chr3:48948440-48948441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529740591	chr3:48948444-48948445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs143474789	chr3:48948484-48948485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147994249	chr3:48948492-48948493	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184794399	chr3:48948510-48948511	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551970055	chr3:48948511-48948512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570349000	chr3:48948541-48948542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375821850	chr3:48948560-48948561	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190546689	chr3:48948589-48948590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572579683	chr3:48948602-48948603	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546539304	chr3:48948628-48948629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140794312	chr3:48948629-48948630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536661440	chr3:48948659-48948660	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs554617047	chr3:48948702-48948703	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570153119	chr3:48948706-48948707	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112926226	chr3:48948715-48948716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs192968867	chr3:48948735-48948736	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559077448	chr3:48948846-48948847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577540832	chr3:48948857-48948858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs13064624	chr3:48948905-48948906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533900637	chr3:48948912-48948913	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551945161	chr3:48948938-48948939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11710432	chr3:48948980-48948981	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552534736	chr3:48948990-48948991	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553669821	chr3:48949002-48949003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574986483	chr3:48949023-48949024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377240668	chr3:48949056-48949057	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185239411	chr3:48949070-48949071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189772863	chr3:48949075-48949076	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117541553	chr3:48949099-48949100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530158296	chr3:48949154-48949155	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528313982	chr3:48949174-48949175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34835106	chr3:48949201-48949202	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144915784	chr3:48949245-48949246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181033458	chr3:48949246-48949247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185104844	chr3:48949265-48949266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548578207	chr3:48949266-48949267	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549749159	chr3:48949292-48949293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569982313	chr3:48949298-48949299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557328824	chr3:48949310-48949311	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575478099	chr3:48949337-48949338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs35909284	chr3:48949372-48949373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537419129	chr3:48949384-48949385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71278655	chr3:48949393-48949394	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369120615	chr3:48949394-48949395	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372954421	chr3:48949491-48949492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559138942	chr3:48949497-48949498	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375680428	chr3:48949546-48949547	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144881815	chr3:48949760-48949761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370179428	chr3:48949797-48949798	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
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48936600-48954800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48936600-48954800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:48936800-48948600	Weak transcription	Right Atrium	heart
4	chr3:48942400-48954600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:48945800-48954800	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:48949000-48951600	Weak transcription	Fetal Thymus	thymus
7	chr3:48950400-48950600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:48950600-48954800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:48950800-48954800	Weak transcription	Brain Substantia Nigra	brain
10	chr3:48950800-48954800	Weak transcription	Fetal Brain Male	brain

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