Variant report

Variant	esv3428777
Chromosome Location	chr3:48314320-48319936
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48235794..48238094-chr3:48312692..48314952,2	MCF-7	breast:
2	chr3:48313852..48317014-chr3:48476122..48479164,3	MCF-7	breast:
3	chr3:48313740..48316936-chr3:48317939..48320395,4	K562	blood:
4	chr3:48316311..48317003-chr3:48477121..48477987,3	K562	blood:
5	chr3:48313306..48315855-chr3:48341365..48343268,2	MCF-7	breast:
6	chr3:48282587..48284198-chr3:48313959..48316882,2	MCF-7	breast:
7	chr3:48319008..48321594-chr3:48336841..48339806,2	K562	blood:
8	chr3:48313740..48316936-chr3:48317939..48320395,4	K562	blood:
9	chr3:48318272..48320566-chr3:48327646..48330143,2	MCF-7	breast:
10	chr3:48319873..48321647-chr3:48332683..48334482,2	K562	blood:
11	chr3:48314376..48316002-chr3:48477111..48478324,17	MCF-7	breast:
12	chr3:48314912..48317510-chr3:48470548..48472689,2	MCF-7	breast:
13	chr3:48313829..48315747-chr3:48442766..48445683,2	MCF-7	breast:
14	chr3:48319935..48322606-chr3:48475252..48477536,2	MCF-7	breast:
15	chr3:48313855..48315594-chr3:48328872..48330506,2	K562	blood:
16	chr3:48312759..48319718-chr3:48469447..48473702,8	MCF-7	breast:
17	chr3:48316097..48318259-chr3:48340599..48343479,2	K562	blood:
18	chr3:48314953..48315704-chr3:48473997..48474750,2	MCF-7	breast:
19	chr3:48319259..48321840-chr3:48323712..48326598,2	K562	blood:
20	chr3:48318319..48320980-chr3:48323069..48325420,2	MCF-7	breast:
21	chr3:48308211..48311790-chr3:48318412..48322138,4	K562	blood:
22	chr3:48314741..48315936-chr3:48477090..48478069,6	MCF-7	breast:
23	chr3:48314812..48315780-chr3:48476828..48478099,14	K562	blood:
24	chr3:48314990..48315849-chr3:48442135..48442913,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228638	chromatin interactions
ENSG00000172113	chromatin interactions
ENSG00000164048	chromatin interactions
ENSG00000265483	chromatin interactions
ENSG00000164050	chromatin interactions
ENSG00000199476	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs566524328	chr3:48314580-48314581	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs76508722	chr3:48314581-48314582	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs111286887	chr3:48314585-48314586	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs1134991	chr3:48314595-48314596	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs1056791	chr3:48314618-48314619	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs535371575	chr3:48314680-48314681	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs560390312	chr3:48314685-48314686	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs1134993	chr3:48314689-48314690	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs557251976	chr3:48314728-48314729	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs375801060	chr3:48314729-48314730	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs190688912	chr3:48314754-48314755	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs537457979	chr3:48314815-48314816	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs559051801	chr3:48314849-48314850	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs138837913	chr3:48314861-48314862	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs570458387	chr3:48314886-48314887	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs369271901	chr3:48314888-48314889	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs574653293	chr3:48314937-48314938	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs551816217	chr3:48314979-48314980	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs181829267	chr3:48315020-48315021	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs559681202	chr3:48315080-48315081	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs575009213	chr3:48315172-48315173	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs370915401	chr3:48315179-48315180	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564028232	chr3:48315184-48315185	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs530387346	chr3:48315192-48315193	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs186093618	chr3:48315238-48315239	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs563786992	chr3:48315251-48315252	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs528165768	chr3:48315252-48315253	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs188899582	chr3:48315296-48315297	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs142781272	chr3:48315360-48315361	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs181579039	chr3:48315371-48315372	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs186766392	chr3:48315372-48315373	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs529107831	chr3:48315476-48315477	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs550565895	chr3:48315486-48315487	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532700077	chr3:48315510-48315511	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs191099655	chr3:48315535-48315536	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs146600709	chr3:48315538-48315539	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs537395488	chr3:48315590-48315591	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs558988338	chr3:48315619-48315620	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570897611	chr3:48315696-48315697	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs534791430	chr3:48315717-48315718	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs553457812	chr3:48315753-48315754	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs571807395	chr3:48315775-48315776	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs139108197	chr3:48315808-48315809	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs182996527	chr3:48315856-48315857	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185821323	chr3:48315881-48315882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531658388	chr3:48315931-48315932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs35922119	chr3:48315932-48315933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533840143	chr3:48316003-48316004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546129311	chr3:48316004-48316005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115026089	chr3:48316010-48316011	Weak transcription Enhancers	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48283400-48315200	Weak transcription	Ovary	ovary
2	chr3:48303000-48317400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:48305600-48318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:48308800-48316800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:48309400-48321000	Weak transcription	Right Atrium	heart
6	chr3:48309600-48317800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:48310000-48314600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:48310200-48316000	Weak transcription	Hela-S3	cervix
9	chr3:48310400-48314400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr3:48310600-48315000	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:48310800-48316400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:48310800-48316800	Weak transcription	HSMMtube	muscle
13	chr3:48310800-48330200	Weak transcription	Fetal Lung	lung
14	chr3:48311000-48314400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr3:48311000-48314400	Weak transcription	Stomach Mucosa	stomach
16	chr3:48311000-48314600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr3:48311000-48315800	Weak transcription	Right Ventricle	heart
18	chr3:48311000-48333800	Weak transcription	Brain Anterior Caudate	brain
19	chr3:48311200-48315600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:48311200-48317400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:48311200-48317800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:48311200-48318000	Weak transcription	Gastric	stomach
23	chr3:48311200-48330800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:48311200-48334400	Weak transcription	Aorta	Aorta
25	chr3:48311400-48314800	Weak transcription	Adipose Nuclei	Adipose
26	chr3:48311400-48315400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:48311400-48333400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:48311400-48334200	Weak transcription	Thymus	Thymus
29	chr3:48311600-48314800	Weak transcription	Primary B cells from cord blood	blood
30	chr3:48311600-48330800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:48311600-48334200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:48311600-48334200	Weak transcription	Liver	Liver
33	chr3:48311800-48314800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:48311800-48315200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:48311800-48315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:48311800-48316800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:48311800-48329800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:48312000-48314400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr3:48312000-48314600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:48312000-48314800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:48312000-48315200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:48312000-48315600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr3:48312000-48316800	Weak transcription	HMEC	breast
44	chr3:48312000-48334400	Weak transcription	Brain Substantia Nigra	brain
45	chr3:48312200-48314400	Weak transcription	Dnd41	blood
46	chr3:48312200-48315000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:48312200-48315400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:48312200-48331000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr3:48312400-48314600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:48312400-48320800	Weak transcription	GM12878-XiMat	blood

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