Variant report

Variant	esv3343269
Chromosome Location	chr3:79021812-79023810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:79019214..79022375-chr3:79066992..79070586,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169855	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543690087	chr3:79021867-79021868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143000504	chr3:79021878-79021879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111278275	chr3:79021924-79021925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73120664	chr3:79021953-79021954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188037169	chr3:79021978-79021979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534927459	chr3:79021994-79021995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528509075	chr3:79022020-79022021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548275538	chr3:79022037-79022038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562065913	chr3:79022062-79022063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138430152	chr3:79022116-79022117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549673827	chr3:79022161-79022162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568328996	chr3:79022165-79022166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180914421	chr3:79022237-79022238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75530291	chr3:79022261-79022262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552508411	chr3:79022262-79022263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141936676	chr3:79022273-79022274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150674334	chr3:79022288-79022289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187328432	chr3:79022317-79022318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28412538	chr3:79022336-79022337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192051259	chr3:79022339-79022340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10575015	chr3:79022555-79022556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557228919	chr3:79022604-79022605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112499447	chr3:79022633-79022634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539289443	chr3:79022636-79022637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577034099	chr3:79022656-79022657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7612794	chr3:79022673-79022674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559664854	chr3:79022679-79022680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568920859	chr3:79022682-79022683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374959864	chr3:79022699-79022700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386356063	chr3:79022726-79022727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181839265	chr3:79022823-79022824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541859037	chr3:79022830-79022831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562131635	chr3:79022839-79022840	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543590262	chr3:79022911-79022912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs186241661	chr3:79022947-79022948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114484073	chr3:79023013-79023014	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563299790	chr3:79023031-79023032	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139904360	chr3:79023090-79023091	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552498022	chr3:79023129-79023130	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369374436	chr3:79023161-79023162	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574743379	chr3:79023163-79023164	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566014165	chr3:79023241-79023242	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190666667	chr3:79023245-79023246	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182496645	chr3:79023246-79023247	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116036158	chr3:79023306-79023307	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368416573	chr3:79023366-79023367	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10049012	chr3:79023416-79023417	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189719866	chr3:79023436-79023437	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182718983	chr3:79023444-79023445	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188977530	chr3:79023447-79023448	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79001000-79024200	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:79006800-79023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:79007000-79023400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:79011400-79027400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:79015400-79022200	Weak transcription	Ovary	ovary
6	chr3:79016400-79022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:79016800-79023600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:79016800-79024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:79018000-79027600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:79018200-79027600	Weak transcription	Brain Angular Gyrus	brain
11	chr3:79018600-79024400	Weak transcription	Fetal Lung	lung
12	chr3:79018600-79027600	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:79018600-79027600	Weak transcription	Brain Substantia Nigra	brain
14	chr3:79018800-79022200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:79018800-79023000	Weak transcription	NHDF-Ad	bronchial
16	chr3:79019000-79022200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:79019000-79022800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:79019000-79023600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:79019200-79023000	Weak transcription	HSMM	muscle
20	chr3:79019200-79025400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:79019600-79025400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:79019600-79027400	Weak transcription	Brain Anterior Caudate	brain
23	chr3:79020200-79022000	Weak transcription	Osteobl	bone
24	chr3:79020200-79022400	Enhancers	HepG2	liver
25	chr3:79020600-79027800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:79021200-79022400	Enhancers	HMEC	breast
27	chr3:79021600-79022400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:79021600-79023200	Enhancers	NHEK	skin
29	chr3:79021800-79022200	Enhancers	Psoas Muscle	Psoas
30	chr3:79021800-79022200	Enhancers	Rectal Smooth Muscle	rectum
31	chr3:79021800-79022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:79022000-79022200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:79022000-79022200	Enhancers	A549	lung
34	chr3:79022000-79022600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:79022000-79023000	Enhancers	Osteobl	bone
36	chr3:79022000-79023800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:79022200-79022400	Enhancers	Ovary	ovary
38	chr3:79022200-79022800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:79022200-79023200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr3:79022200-79023200	Weak transcription	A549	lung
41	chr3:79022200-79026200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:79022200-79027600	Weak transcription	Psoas Muscle	Psoas
43	chr3:79022400-79023400	Weak transcription	Ovary	ovary
44	chr3:79022400-79024400	Weak transcription	HepG2	liver
45	chr3:79022400-79041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:79022600-79023200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:79022800-79023000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:79022800-79023200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:79022800-79024000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr3:79023000-79023200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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