Variant report

Variant	esv2756037
Chromosome Location	chr3:89938611-90024986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89954956..89957239-chr3:89973715..89976586,2	MCF-7	breast:
2	chr3:89996325..89997175-chr3:90140367..90141418,4	MCF-7	breast:
3	chr3:90001450..90003026-chr3:90006244..90008333,2	MCF-7	breast:
4	chr3:89996606..89997218-chr3:90142348..90142978,2	MCF-7	breast:
5	chr3:90001450..90003026-chr3:90006244..90008333,2	MCF-7	breast:
6	chr3:89996596..89997810-chr3:90140377..90141392,6	MCF-7	breast:
7	chr3:89954956..89957239-chr3:89973715..89976586,2	MCF-7	breast:

Extended variants
information (count: 3064 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3064 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17027311	chr3:89938611-89938612	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528528154	chr3:89938629-89938630	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565541529	chr3:89938636-89938637	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372289403	chr3:89938641-89938642	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573516695	chr3:89938676-89938677	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571280049	chr3:89938680-89938681	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538561814	chr3:89938703-89938704	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201995618	chr3:89938704-89938705	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148730613	chr3:89938733-89938734	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536485720	chr3:89938741-89938742	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs534506332	chr3:89938751-89938752	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141472144	chr3:89938779-89938780	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533841706	chr3:89938812-89938813	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558599449	chr3:89938818-89938819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576947052	chr3:89938842-89938843	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531888632	chr3:89938847-89938848	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564059126	chr3:89938874-89938875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150768648	chr3:89938884-89938885	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs72915886	chr3:89938900-89938901	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181105445	chr3:89938902-89938903	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546655790	chr3:89938903-89938904	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562433980	chr3:89938905-89938906	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571500283	chr3:89938908-89938909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74349635	chr3:89938979-89938980	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532567817	chr3:89939011-89939012	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554885858	chr3:89939039-89939040	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569140244	chr3:89939065-89939066	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546348358	chr3:89939075-89939076	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536110390	chr3:89939083-89939084	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs114831721	chr3:89939092-89939093	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574627225	chr3:89939093-89939094	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566634158	chr3:89939098-89939099	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376000115	chr3:89939102-89939103	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs185253048	chr3:89939116-89939117	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189670495	chr3:89939134-89939135	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558712018	chr3:89939135-89939136	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541826862	chr3:89939162-89939163	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577007359	chr3:89939166-89939167	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563100248	chr3:89939198-89939199	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537888981	chr3:89939230-89939231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139171022	chr3:89939236-89939237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7648800	chr3:89939252-89939253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144137142	chr3:89939256-89939257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561161913	chr3:89939273-89939274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555344746	chr3:89939309-89939310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183918129	chr3:89939327-89939328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369097806	chr3:89939377-89939378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34973998	chr3:89939385-89939386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58793033	chr3:89939412-89939413	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56829468	chr3:89939420-89939421	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89938200-89939000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr3:89938200-89939000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:89938200-89939000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:89938200-89939200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:89938200-89939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:89938200-89939800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:89938400-89939000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:89938400-89939000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:89938400-89939000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:89938400-89939200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:89938600-89938800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:89938600-89939000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:89938800-89939000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr3:89939000-89939200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:89939000-89939200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:89939000-89939400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:89939200-89939400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:89939400-89940600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:89940000-89940200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:89953400-89963600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:89963600-89964200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:89972400-89973200	Enhancers	Fetal Lung	lung
23	chr3:89973200-89973600	Flanking Active TSS	Fetal Lung	lung
24	chr3:89973200-89973600	Enhancers	HSMMtube	muscle
25	chr3:89973200-89974000	Enhancers	Fetal Brain Male	brain
26	chr3:89973600-89974200	Enhancers	Fetal Lung	lung
27	chr3:89974200-89975000	Weak transcription	Fetal Lung	lung
28	chr3:89975000-89975400	Enhancers	Fetal Lung	lung
29	chr3:89975200-89976000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:89975400-89977400	Weak transcription	Fetal Lung	lung
31	chr3:89975600-89976600	Enhancers	Stomach Mucosa	stomach
32	chr3:89976400-89976800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:89977000-89977200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:89977200-89984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:89977400-89977600	Enhancers	Fetal Lung	lung
36	chr3:89982000-89982200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:89982000-89983000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:89982200-89982600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr3:89982200-89982600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:89982200-89982600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:89982200-89982800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr3:89982200-89983400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr3:89982600-89984400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr3:89982600-89998000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:89982800-89984000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr3:89982800-89984000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:89983000-89983800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:89983200-89984600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:89983200-89984600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:89983400-89984400	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links