Variant report

Variant	esv3462052
Chromosome Location	chr3:76083579-76096297
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	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:
2	chr3:75867624..75868149-chr3:76093803..76094658,2	MCF-7	breast:

Extended variants
information (count: 520 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567803843	chr3:76083590-76083591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531925967	chr3:76083618-76083619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568444805	chr3:76083641-76083642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79567687	chr3:76083714-76083715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149566131	chr3:76083739-76083740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183093906	chr3:76083743-76083744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368436292	chr3:76083758-76083759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186796640	chr3:76083765-76083766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539068233	chr3:76083794-76083795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146071369	chr3:76083805-76083806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189631716	chr3:76083811-76083812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72890390	chr3:76083828-76083829	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554483951	chr3:76083832-76083833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2130094	chr3:76083846-76083847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536824463	chr3:76083921-76083922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2171639	chr3:76083946-76083947	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115237641	chr3:76084038-76084039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531048455	chr3:76084077-76084078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34238454	chr3:76084104-76084105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574455417	chr3:76084114-76084115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75898033	chr3:76084170-76084171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561343461	chr3:76084179-76084180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561492719	chr3:76084186-76084187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60405340	chr3:76084194-76084195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182652223	chr3:76084213-76084214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565618106	chr3:76084222-76084223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144173797	chr3:76084248-76084249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187075847	chr3:76084251-76084252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566031424	chr3:76084282-76084283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200801868	chr3:76084340-76084341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34206603	chr3:76084341-76084342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201277276	chr3:76084355-76084356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77497977	chr3:76084356-76084357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146028058	chr3:76084371-76084372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548088556	chr3:76084386-76084387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551160398	chr3:76084429-76084430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73841081	chr3:76084430-76084431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148665262	chr3:76084524-76084525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1489101	chr3:76084525-76084526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534562228	chr3:76084530-76084531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570542524	chr3:76084568-76084569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34342137	chr3:76084569-76084570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397729458	chr3:76084572-76084573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7647400	chr3:76084573-76084574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373227669	chr3:76084595-76084596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374108748	chr3:76084598-76084599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7625913	chr3:76084620-76084621	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs7625915	chr3:76084640-76084641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541437971	chr3:76084641-76084642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563430946	chr3:76084697-76084698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76075200-76088000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:76077000-76084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:76082600-76083600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:76082600-76084000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:76082600-76084000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:76083000-76087600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:76083000-76088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:76083600-76085000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:76083600-76085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:76083800-76084400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:76084000-76084200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:76084000-76084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:76084000-76084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:76084000-76084600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:76084200-76084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:76084200-76087400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:76084200-76087600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:76084400-76084800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:76084400-76085200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:76084600-76085000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:76084800-76085000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:76084800-76085000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:76085000-76085200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:76085000-76087000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:76085000-76087000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:76085000-76092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:76085200-76086600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:76085200-76087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:76085200-76087400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:76086600-76087600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:76086800-76089600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:76087000-76087200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:76087000-76087800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:76087000-76088000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:76087000-76088400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:76087000-76089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:76087200-76088600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:76087400-76087800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:76087400-76088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:76087400-76089200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:76087600-76087800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr3:76087600-76087800	ZNF genes & repeats	NHEK	skin
43	chr3:76087600-76088000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr3:76087600-76088000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:76087600-76088200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr3:76087600-76090600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:76087800-76088000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr3:76087800-76088200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:76087800-76088200	Weak transcription	NHEK	skin
50	chr3:76087800-76088400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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