Variant report

Variant	esv3406976
Chromosome Location	chr3:48581748-48585946
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:48579149..48580932-chr3:48582283..48584303,2	K562	blood:
2	chr3:48442037..48442893-chr3:48585866..48586639,3	K562	blood:
3	chr3:48505336..48507903-chr3:48585483..48588642,3	MCF-7	breast:
4	chr3:48505094..48507192-chr3:48581035..48583358,2	MCF-7	breast:
5	chr3:48504857..48507014-chr3:48585352..48587793,2	MCF-7	breast:
6	chr3:48506640..48507542-chr3:48585917..48586810,5	MCF-7	breast:
7	chr3:48485511..48488053-chr3:48583832..48585803,2	K562	blood:
8	chr3:48469345..48470998-chr3:48583885..48586226,2	K562	blood:
9	chr3:48575329..48578020-chr3:48582630..48584572,2	K562	blood:
10	chr3:48575329..48579039-chr3:48581677..48584572,3	K562	blood:
11	chr3:48584950..48588174-chr3:48591529..48594760,3	K562	blood:
12	chr3:48486933..48489526-chr3:48585390..48587565,2	MCF-7	breast:
13	chr3:48504638..48507562-chr3:48580974..48584844,3	MCF-7	breast:
14	chr3:48540004..48544821-chr3:48582947..48586944,4	MCF-7	breast:
15	chr3:48580179..48583037-chr3:48585118..48587364,2	K562	blood:
16	chr3:48477195..48477710-chr3:48585832..48586734,2	K562	blood:
17	chr3:48514614..48515271-chr3:48585932..48586761,2	MCF-7	breast:
18	chr3:48580876..48582431-chr3:48589920..48591706,2	K562	blood:
19	chr3:48508547..48510536-chr3:48581304..48583725,2	K562	blood:
20	chr3:48572206..48574308-chr3:48584630..48587149,2	MCF-7	breast:
21	chr3:48546575..48548202-chr3:48583310..48585559,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114268	chromatin interactions
ENSG00000164050	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000213689	chromatin interactions
ENSG00000164054	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561698699	chr3:48581756-48581757	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143214693	chr3:48581759-48581760	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374913639	chr3:48581786-48581787	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529111254	chr3:48581811-48581812	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9837687	chr3:48581848-48581849	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181365662	chr3:48581873-48581874	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs202063505	chr3:48581874-48581875	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34817026	chr3:48581875-48581876	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147210133	chr3:48581901-48581902	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557778128	chr3:48581940-48581941	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552326392	chr3:48581952-48581953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11348081	chr3:48582162-48582163	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576709840	chr3:48582172-48582173	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376806576	chr3:48582195-48582196	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544521665	chr3:48582238-48582239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs28391653	chr3:48582281-48582282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369520201	chr3:48582304-48582305	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146169545	chr3:48582318-48582319	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs199841390	chr3:48582354-48582355	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556055920	chr3:48582380-48582381	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113213245	chr3:48582457-48582458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574589495	chr3:48582517-48582518	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs535654555	chr3:48582528-48582529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139426403	chr3:48582605-48582606	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185689574	chr3:48582633-48582634	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374281836	chr3:48582643-48582644	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377546623	chr3:48582660-48582661	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545377846	chr3:48582661-48582662	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557496690	chr3:48582670-48582671	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572818515	chr3:48582689-48582690	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201198623	chr3:48582707-48582708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561824678	chr3:48582714-48582715	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149950110	chr3:48582769-48582770	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551680350	chr3:48582833-48582834	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571338174	chr3:48582879-48582880	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs533295483	chr3:48582958-48582959	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551678188	chr3:48582971-48582972	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs116317486	chr3:48583041-48583042	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371126898	chr3:48583070-48583071	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188431433	chr3:48583100-48583101	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546728595	chr3:48583201-48583202	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs180694588	chr3:48583204-48583205	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187389883	chr3:48583259-48583260	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557166545	chr3:48583264-48583265	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs35325884	chr3:48583316-48583317	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs145258700	chr3:48583452-48583453	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569185436	chr3:48583453-48583454	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539717010	chr3:48583466-48583467	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191853465	chr3:48583486-48583487	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9810549	chr3:48583513-48583514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48547600-48591600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:48555200-48582200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:48556200-48586800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:48556400-48586400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:48559600-48586400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:48562600-48592000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:48565800-48583600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:48568800-48586000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:48570600-48591600	Weak transcription	Fetal Brain Male	brain
10	chr3:48571000-48581800	Strong transcription	Fetal Intestine Small	intestine
11	chr3:48572200-48583800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:48572600-48581800	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr3:48573400-48584400	Weak transcription	Fetal Kidney	kidney
14	chr3:48573600-48583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:48573600-48589600	Weak transcription	Fetal Lung	lung
16	chr3:48573600-48592600	Weak transcription	NHDF-Ad	bronchial
17	chr3:48573600-48593400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:48574000-48583400	Weak transcription	Aorta	Aorta
19	chr3:48574000-48583400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:48574200-48586000	Weak transcription	Primary T cells from cord blood	blood
21	chr3:48574400-48583400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:48574400-48583400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:48574400-48591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:48574800-48583600	Weak transcription	NH-A	brain
25	chr3:48574800-48591200	Weak transcription	Dnd41	blood
26	chr3:48576000-48594000	Weak transcription	Small Intestine	intestine
27	chr3:48576200-48583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:48576400-48583400	Weak transcription	Brain Angular Gyrus	brain
29	chr3:48576400-48583400	Weak transcription	A549	lung
30	chr3:48576400-48590200	Weak transcription	Colonic Mucosa	Colon
31	chr3:48576400-48591800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:48576600-48583200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:48576600-48583600	Weak transcription	Osteobl	bone
34	chr3:48576800-48583600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:48577000-48582800	Weak transcription	NHLF	lung
36	chr3:48577000-48583600	Weak transcription	Esophagus	oesophagus
37	chr3:48577200-48583400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:48577200-48583600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:48577200-48583600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:48577200-48583600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:48577600-48583400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:48577600-48583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:48577600-48586400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:48577600-48589600	Weak transcription	Gastric	stomach
45	chr3:48577600-48591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:48577800-48583200	Weak transcription	HMEC	breast
47	chr3:48578000-48583400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:48578000-48583400	Weak transcription	Brain Anterior Caudate	brain
49	chr3:48578000-48593400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:48578800-48581800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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