Variant report

Variant	esv3346703
Chromosome Location	chr3:50161798-50164121
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	chr3:50159863..50162699-chr3:50227102..50229015,2	MCF-7	breast:
2	chr3:50160797..50162684-chr3:50168795..50170458,2	K562	blood:
3	chr3:50160874..50163640-chr3:50208443..50212191,3	MCF-7	breast:
4	chr3:50160721..50162724-chr3:50168795..50173383,5	K562	blood:
5	chr3:50161158..50162921-chr3:50305977..50308672,2	MCF-7	breast:
6	chr3:50159660..50164036-chr3:50192840..50194687,5	MCF-7	breast:
7	chr3:50160600..50163125-chr3:50165110..50166972,2	K562	blood:
8	chr3:50160998..50164207-chr3:50182321..50186383,5	MCF-7	breast:
9	chr3:50126403..50128325-chr3:50160017..50162244,2	K562	blood:
10	chr3:50159456..50162319-chr3:50219571..50221770,3	K562	blood:
11	chr3:50161300..50163134-chr3:50195216..50197721,2	MCF-7	breast:
12	chr3:50159501..50162170-chr3:50213209..50216428,3	K562	blood:
13	chr3:50157840..50167526-chr3:50182100..50196634,43	MCF-7	breast:
14	chr3:50161160..50162683-chr3:50271555..50274143,2	MCF-7	breast:
15	chr3:50126440..50128004-chr3:50161064..50162835,2	MCF-7	breast:
16	chr3:50159102..50161217-chr3:50161241..50163893,2	MCF-7	breast:
17	chr3:50160236..50162661-chr3:50199284..50201968,2	MCF-7	breast:
18	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
19	chr3:50162229..50165038-chr3:50305683..50307880,2	MCF-7	breast:
20	chr3:50157879..50160528-chr3:50162974..50166130,4	K562	blood:
21	chr3:50159634..50161938-chr3:50227980..50230309,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114349	chromatin interactions
ENSG00000003756	chromatin interactions
ENSG00000114353	chromatin interactions
ENSG00000207922	chromatin interactions
ENSG00000235016	chromatin interactions
ENSG00000012171	chromatin interactions
ENSG00000001617	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372038980	chr3:50161864-50161865	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs568073773	chr3:50161867-50161868	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs141284914	chr3:50161868-50161869	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs183905800	chr3:50161869-50161870	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs533602390	chr3:50161871-50161872	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs529192691	chr3:50161872-50161873	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs186949616	chr3:50161873-50161874	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs533120168	chr3:50161878-50161879	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs12107362	chr3:50161913-50161914	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570907352	chr3:50162069-50162070	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs142080907	chr3:50162090-50162091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs559868872	chr3:50162112-50162113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs371179317	chr3:50162216-50162217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs376065009	chr3:50162283-50162284	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs2008877	chr3:50162291-50162292	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs34016015	chr3:50162377-50162378	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs569368517	chr3:50162396-50162397	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs540009304	chr3:50162408-50162409	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs191847800	chr3:50162451-50162452	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs79942743	chr3:50162462-50162463	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs143680536	chr3:50162468-50162469	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs73835205	chr3:50162511-50162512	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555410555	chr3:50162541-50162542	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs145473917	chr3:50162567-50162568	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs2624849	chr3:50162648-50162649	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs537483212	chr3:50162687-50162688	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs556557789	chr3:50162712-50162713	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs545164223	chr3:50162800-50162801	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs79221693	chr3:50162815-50162816	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs528576158	chr3:50162891-50162892	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs546645753	chr3:50162967-50162968	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561770046	chr3:50163038-50163039	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs529217680	chr3:50163040-50163041	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs183132644	chr3:50163041-50163042	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs550898204	chr3:50163075-50163076	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs569513149	chr3:50163096-50163097	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs539692508	chr3:50163125-50163126	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs2856235	chr3:50163173-50163174	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs551746709	chr3:50163175-50163176	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs554212923	chr3:50163176-50163177	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs551942717	chr3:50163254-50163255	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs368816885	chr3:50163314-50163315	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575124465	chr3:50163319-50163320	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs143625732	chr3:50163364-50163365	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs115192074	chr3:50163408-50163409	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs573694805	chr3:50163457-50163458	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs574218314	chr3:50163489-50163490	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs537823326	chr3:50163608-50163609	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs373837841	chr3:50163613-50163614	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs556211125	chr3:50163614-50163615	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Adrenocortical carcinoma	18281524	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50143200-50163200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:50151000-50176400	Weak transcription	Right Atrium	heart
3	chr3:50153600-50162200	Weak transcription	Fetal Heart	heart
4	chr3:50156400-50163800	Weak transcription	K562	blood
5	chr3:50156600-50162000	Weak transcription	NHDF-Ad	bronchial
6	chr3:50157600-50161800	Weak transcription	Ovary	ovary
7	chr3:50157600-50162000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:50157800-50163200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:50157800-50164400	Weak transcription	Small Intestine	intestine
10	chr3:50158000-50162000	Weak transcription	NH-A	brain
11	chr3:50158200-50162000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50158400-50161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:50158400-50162000	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:50158400-50162000	Weak transcription	HUVEC	blood vessel
15	chr3:50158600-50161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:50158600-50162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:50158600-50163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:50158600-50163200	Weak transcription	Left Ventricle	heart
19	chr3:50158600-50164200	Weak transcription	Aorta	Aorta
20	chr3:50158600-50164400	Weak transcription	HSMMtube	muscle
21	chr3:50158800-50161800	Weak transcription	Brain Germinal Matrix	brain
22	chr3:50158800-50162000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:50158800-50162000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:50158800-50162000	Weak transcription	Osteobl	bone
25	chr3:50158800-50162400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:50158800-50162600	Weak transcription	Primary B cells from cord blood	blood
27	chr3:50159000-50162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:50159200-50162000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:50159200-50162000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:50159200-50162000	Enhancers	Stomach Mucosa	stomach
31	chr3:50159200-50162400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:50159200-50162600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:50159200-50163200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:50159200-50163800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:50159200-50165000	Enhancers	Placenta	Placenta
36	chr3:50159200-50165200	Enhancers	Fetal Lung	lung
37	chr3:50159400-50162000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:50159400-50162000	Weak transcription	Adipose Nuclei	Adipose
39	chr3:50159400-50162400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:50159400-50162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:50159400-50162800	Weak transcription	Fetal Brain Male	brain
42	chr3:50159400-50163400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:50159600-50162000	Weak transcription	Brain Angular Gyrus	brain
44	chr3:50159600-50162000	Weak transcription	NHLF	lung
45	chr3:50159600-50163200	Enhancers	Fetal Muscle Leg	muscle
46	chr3:50159600-50163400	Weak transcription	HepG2	liver
47	chr3:50159600-50164800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:50159800-50161800	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:50159800-50162000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:50159800-50162000	Weak transcription	HSMM	muscle

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