Variant report

Variant	nsv876996
Chromosome Location	chr3:76094221-76131251
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	chr3:75867624..75868149-chr3:76093803..76094658,2	MCF-7	breast:
2	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:

Extended variants
information (count: 1562 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1562 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4856002	chr3:76094221-76094222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537768479	chr3:76094240-76094241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58112396	chr3:76094261-76094262	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7609917	chr3:76094302-76094303	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs549092597	chr3:76094303-76094304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145476736	chr3:76094317-76094318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148402366	chr3:76094329-76094330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7610010	chr3:76094362-76094363	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569213550	chr3:76094396-76094397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142997012	chr3:76094400-76094401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12714846	chr3:76094405-76094406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572658727	chr3:76094444-76094445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71315333	chr3:76094473-76094474	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs71315334	chr3:76094476-76094477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533924996	chr3:76094481-76094482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558375871	chr3:76094492-76094493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555936919	chr3:76094506-76094507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562023254	chr3:76094508-76094509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574176219	chr3:76094513-76094514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538038968	chr3:76094552-76094553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377005507	chr3:76094554-76094555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556351379	chr3:76094564-76094565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191494821	chr3:76094572-76094573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545262464	chr3:76094575-76094576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151105775	chr3:76094635-76094636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55838120	chr3:76094759-76094760	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542208477	chr3:76094779-76094780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563675187	chr3:76094863-76094864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529277126	chr3:76094960-76094961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73841085	chr3:76094992-76094993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs56999780	chr3:76095017-76095018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184376309	chr3:76095035-76095036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550773435	chr3:76095115-76095116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188909046	chr3:76095143-76095144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60466864	chr3:76095146-76095147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552084425	chr3:76095153-76095154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567043399	chr3:76095189-76095190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534244440	chr3:76095199-76095200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59619273	chr3:76095204-76095205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528644392	chr3:76095227-76095228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549348434	chr3:76095295-76095296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567769274	chr3:76095409-76095410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72892612	chr3:76095485-76095486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556417946	chr3:76095492-76095493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77677305	chr3:76095509-76095510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571902185	chr3:76095526-76095527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577797931	chr3:76095527-76095528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538442397	chr3:76095529-76095530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141351642	chr3:76095541-76095542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572248383	chr3:76095586-76095587	Weak transcription	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
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76089000-76095400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:76089200-76094400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:76089800-76094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:76090400-76099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:76090600-76099800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:76091000-76094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:76093200-76094600	Enhancers	Aorta	Aorta
8	chr3:76093600-76094800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:76093600-76094800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:76093600-76095400	Enhancers	Fetal Intestine Large	intestine
11	chr3:76093800-76095000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:76094000-76094400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:76094000-76094600	Enhancers	NH-A	brain
14	chr3:76094000-76094800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:76094000-76094800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:76094000-76095000	Weak transcription	Fetal Stomach	stomach
17	chr3:76094000-76095400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:76094200-76097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:76094200-76099000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:76094200-76099600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:76094200-76101200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:76094400-76094800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:76094400-76095000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:76094400-76096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:76094600-76096600	Weak transcription	Aorta	Aorta
26	chr3:76094600-76099600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:76094800-76095000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:76094800-76095000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:76094800-76095200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:76094800-76095400	Enhancers	Fetal Lung	lung
31	chr3:76094800-76099600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:76095000-76111000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:76095200-76095400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:76095200-76095400	Enhancers	Fetal Stomach	stomach
35	chr3:76095400-76096800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:76095400-76099400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:76096600-76096800	Enhancers	Aorta	Aorta
38	chr3:76096800-76097400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:76096800-76098000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:76096800-76099800	Weak transcription	Aorta	Aorta
41	chr3:76097200-76097400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:76097400-76097800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:76097400-76099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:76097800-76098200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:76098000-76099800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:76099000-76099200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:76099000-76100000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr3:76099200-76099600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:76099400-76100200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:76099600-76100000	Enhancers	H1 Cell Line	embryonic stem cell

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