Variant report

Variant	esv3499836
Chromosome Location	chr3:78778712-78780710
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	chr3:78766178..78768497-chr3:78778226..78779744,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571958327	chr3:78778778-78778779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181193882	chr3:78778783-78778784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34627881	chr3:78778797-78778798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143762688	chr3:78778798-78778799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376896948	chr3:78778853-78778854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111992812	chr3:78778863-78778864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186699426	chr3:78778867-78778868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563837061	chr3:78778880-78778881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3773236	chr3:78778901-78778902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552788155	chr3:78778910-78778911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562550832	chr3:78778953-78778954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112786077	chr3:78778999-78779000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191239590	chr3:78779061-78779062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548285130	chr3:78779070-78779071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568140724	chr3:78779108-78779109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537129034	chr3:78779175-78779176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182159203	chr3:78779189-78779190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75406384	chr3:78779234-78779235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116918935	chr3:78779235-78779236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558759375	chr3:78779253-78779254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572248515	chr3:78779344-78779345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541346597	chr3:78779382-78779383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554589778	chr3:78779392-78779393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141078722	chr3:78779440-78779441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376758853	chr3:78779472-78779473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150276575	chr3:78779486-78779487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557911562	chr3:78779546-78779547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3931978	chr3:78779569-78779570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4343591	chr3:78779579-78779580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376612865	chr3:78779600-78779601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185321459	chr3:78779601-78779602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190869632	chr3:78779604-78779605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139030962	chr3:78779636-78779637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548501982	chr3:78779651-78779652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564630492	chr3:78779675-78779676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372799204	chr3:78779718-78779719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554250357	chr3:78779721-78779722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561722655	chr3:78779790-78779791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79620436	chr3:78779852-78779853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3773237	chr3:78779889-78779890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541923393	chr3:78779894-78779895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145284683	chr3:78779940-78779941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183537778	chr3:78779943-78779944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552065090	chr3:78779957-78779958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546174217	chr3:78780028-78780029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114951541	chr3:78780073-78780074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534579964	chr3:78780122-78780123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554924541	chr3:78780216-78780217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187508841	chr3:78780299-78780300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561810578	chr3:78780301-78780302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78766600-78783000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:78772000-78792200	Weak transcription	HepG2	liver
3	chr3:78774400-78783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:78777200-78778800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:78777200-78779400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:78777200-78779400	Enhancers	Brain Germinal Matrix	brain
7	chr3:78777400-78778800	Enhancers	NHDF-Ad	bronchial
8	chr3:78777400-78779000	Enhancers	Fetal Lung	lung
9	chr3:78777400-78779400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:78777400-78780000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:78777400-78780400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:78777600-78780000	Enhancers	Fetal Brain Male	brain
13	chr3:78777800-78778800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:78777800-78779000	Enhancers	Osteobl	bone
15	chr3:78777800-78779200	Enhancers	Fetal Stomach	stomach
16	chr3:78777800-78779400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:78777800-78779400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:78777800-78779400	Enhancers	Fetal Brain Female	brain
19	chr3:78777800-78780600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:78778000-78778800	Enhancers	Fetal Muscle Leg	muscle
21	chr3:78778000-78778800	Enhancers	Ovary	ovary
22	chr3:78778000-78778800	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:78778000-78778800	Enhancers	HSMM	muscle
24	chr3:78778000-78779000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:78778000-78779200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:78778000-78779400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:78778000-78779400	Enhancers	Colon Smooth Muscle	Colon
28	chr3:78778200-78778800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:78778200-78778800	Enhancers	HSMMtube	muscle
30	chr3:78778200-78779200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:78778200-78779200	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:78778200-78782800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:78778400-78778800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:78778400-78778800	Enhancers	Brain Anterior Caudate	brain
35	chr3:78778400-78779000	Enhancers	Brain Hippocampus Middle	brain
36	chr3:78778400-78779200	Enhancers	Adipose Nuclei	Adipose
37	chr3:78778400-78779600	Enhancers	Brain Angular Gyrus	brain
38	chr3:78778600-78778800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:78778600-78779000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:78778600-78781600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:78778600-78783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:78778800-78779800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:78778800-78779800	Weak transcription	NHDF-Ad	bronchial
44	chr3:78778800-78780600	Weak transcription	Brain Anterior Caudate	brain
45	chr3:78778800-78783000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:78778800-78783400	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:78778800-78785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:78778800-78787200	Weak transcription	HSMM	muscle
49	chr3:78779000-78779200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:78779000-78779400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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