Variant report

Variant	esv3386719
Chromosome Location	chr3:19454588-19895807
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:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:
2	chr3:19679630..19681949-chr3:19683459..19685004,2	K562	blood:
3	chr3:19745768..19748356-chr3:19750935..19754447,3	K562	blood:
4	chr3:19829915..19832031-chr3:19834488..19836078,2	K562	blood:
5	chr3:19390113..19391205-chr3:19584358..19585952,11	MCF-7	breast:
6	chr3:19525585..19527422-chr3:19576707..19579689,2	MCF-7	breast:
7	chr3:19866393..19868702-chr3:19871331..19874203,2	K562	blood:
8	chr3:19829915..19832031-chr3:19834488..19836078,2	K562	blood:
9	chr3:19443170..19445320-chr3:19453492..19455526,2	K562	blood:
10	chr3:19747542..19750159-chr3:19752091..19755330,3	MCF-7	breast:
11	chr3:19866393..19868702-chr3:19871331..19874203,2	K562	blood:
12	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:
13	chr3:19489514..19491858-chr3:19516874..19519279,2	K562	blood:
14	chr2:105766716..105768972-chr3:19479211..19481306,2	MCF-7	breast:
15	chr3:19863239..19864953-chr3:20226349..20229139,2	K562	blood:
16	chr10:73474420..73475033-chr3:19519900..19520713,2	MCF-7	breast:
17	chr1:62901559..62902065-chr3:19594424..19594924,2	Hela-S3	cervix:
18	chr3:16317176..16319617-chr3:19576040..19578450,2	MCF-7	breast:
19	chr3:19679630..19681949-chr3:19683459..19685004,2	K562	blood:
20	chr3:19489514..19491858-chr3:19516874..19519279,2	K562	blood:
21	chr3:19106420..19107155-chr3:19584445..19585029,2	MCF-7	breast:
22	chr3:19390558..19391094-chr3:19584541..19585367,2	MCF-7	breast:
23	chr3:19747542..19750159-chr3:19752091..19755330,3	MCF-7	breast:
24	chr3:19745768..19748356-chr3:19750935..19754447,3	K562	blood:
25	chr3:19525585..19527422-chr3:19576707..19579689,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHB-1	chr3:19729726-19729972	XLOC_003064
2	lnc-EFHB-1	chr3:19717560-19717598	XLOC_003064

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KCNH8	hsa-miR-143-3p	chr3:19576050-19576073
2	KCNH8	hsa-miR-143-3p	chr3:19576066-19576072

Variant related genes	Relation type
ENSG00000129810	chromatin interactions
ENSG00000162607	chromatin interactions
ENSG00000270739	chromatin interactions
ESYT1	miRNA target sites

Extended variants
information (count: 8806 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:8806 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138184584	chr3:19454625-19454626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529487611	chr3:19454640-19454641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34011275	chr3:19454642-19454643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199868772	chr3:19454643-19454644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544433314	chr3:19454667-19454668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563107922	chr3:19454712-19454713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182196553	chr3:19454738-19454739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552127813	chr3:19454865-19454866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570442702	chr3:19454878-19454879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528129635	chr3:19454919-19454920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546711502	chr3:19454926-19454927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568014979	chr3:19454936-19454937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142675187	chr3:19454952-19454953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186798551	chr3:19454970-19454971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538691420	chr3:19454980-19454981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146016494	chr3:19454995-19454996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559584844	chr3:19455055-19455056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138721991	chr3:19455062-19455063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376038083	chr3:19455107-19455108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557663489	chr3:19455110-19455111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113672701	chr3:19455158-19455159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540278305	chr3:19455160-19455161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114679877	chr3:19455199-19455200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561498537	chr3:19455279-19455280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574010758	chr3:19455288-19455289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549047249	chr3:19455302-19455303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544707775	chr3:19455386-19455387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562915503	chr3:19455389-19455390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191513338	chr3:19455426-19455427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183008805	chr3:19455431-19455432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560808758	chr3:19455432-19455433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149295733	chr3:19455458-19455459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188544718	chr3:19455487-19455488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561174858	chr3:19455499-19455500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4021207	chr3:19455547-19455548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534633990	chr3:19455611-19455612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554545348	chr3:19455631-19455632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568942770	chr3:19455632-19455633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144514424	chr3:19455633-19455634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551258493	chr3:19455640-19455641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192930638	chr3:19455647-19455648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533846535	chr3:19455663-19455664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555441614	chr3:19455667-19455668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374159704	chr3:19455685-19455686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370428410	chr3:19455698-19455699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546837925	chr3:19455704-19455705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75188314	chr3:19455728-19455729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578105002	chr3:19455754-19455755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148424195	chr3:19455796-19455797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560674446	chr3:19455808-19455809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	22495311	CNVD

Chromatin state (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19449600-19472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:19456000-19458400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:19461200-19467800	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:19461600-19462000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr3:19461800-19462200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:19467200-19467600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:19467800-19468000	Enhancers	Brain Hippocampus Middle	brain
8	chr3:19468000-19474000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:19472200-19472600	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:19472600-19473200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:19472600-19479600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:19473000-19479000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:19473000-19491400	Weak transcription	Primary B cells from cord blood	blood
14	chr3:19473200-19479200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:19473600-19474800	Enhancers	Fetal Lung	lung
16	chr3:19473800-19474200	Enhancers	Brain Anterior Caudate	brain
17	chr3:19473800-19475000	Enhancers	Rectal Smooth Muscle	rectum
18	chr3:19474000-19474400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:19474000-19474800	Enhancers	Brain Hippocampus Middle	brain
20	chr3:19474000-19474800	Enhancers	Brain Substantia Nigra	brain
21	chr3:19474200-19474400	Enhancers	Brain Germinal Matrix	brain
22	chr3:19474400-19474600	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:19474400-19475200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:19474400-19513200	Weak transcription	Brain Germinal Matrix	brain
25	chr3:19474600-19478400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:19474600-19482000	Weak transcription	Fetal Brain Male	brain
27	chr3:19474800-19479800	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:19475200-19475400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:19477800-19479400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:19478000-19478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:19478000-19478600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:19478000-19478600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:19478000-19478800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:19478000-19479600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:19478200-19478800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:19478400-19478600	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:19478400-19480000	Weak transcription	Fetal Brain Female	brain
38	chr3:19478400-19481200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:19478600-19479800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:19478800-19479200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:19478800-19487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:19479000-19481000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:19479200-19479600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:19479200-19484400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:19479400-19488000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:19479600-19483000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:19479600-19483600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:19479800-19480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:19479800-19480400	Strong transcription	Brain Hippocampus Middle	brain
50	chr3:19479800-19480600	Strong transcription	Brain Cingulate Gyrus	brain

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