Variant report

Variant	esv3584751
Chromosome Location	chr2:40916853-40952073
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	chr2:40896962..40898911-chr2:40928950..40930770,2	MCF-7	breast:

Extended variants
information (count: 1168 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1168 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17039019	chr2:40916853-40916854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562239252	chr2:40916861-40916862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532038520	chr2:40916877-40916878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552034826	chr2:40916884-40916885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75346061	chr2:40916924-40916925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77127741	chr2:40916950-40916951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549120174	chr2:40916969-40916970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182433706	chr2:40916988-40916989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535083495	chr2:40917002-40917003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553213596	chr2:40917007-40917008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577950751	chr2:40917031-40917032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79202529	chr2:40917110-40917111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560257240	chr2:40917125-40917126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186873680	chr2:40917128-40917129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575659171	chr2:40917138-40917139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191621097	chr2:40917149-40917150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561028455	chr2:40917164-40917165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10048831	chr2:40917169-40917170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs562072918	chr2:40917201-40917202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115879931	chr2:40917210-40917211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564863666	chr2:40917227-40917228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551143874	chr2:40917240-40917241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536476377	chr2:40917253-40917254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532124097	chr2:40917261-40917262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114360346	chr2:40917333-40917334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567697526	chr2:40917357-40917358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75781673	chr2:40917358-40917359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531070088	chr2:40917363-40917364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549281737	chr2:40917377-40917378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567491643	chr2:40917383-40917384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370969615	chr2:40917389-40917390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184213117	chr2:40917391-40917392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10490260	chr2:40917548-40917549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2373930	chr2:40917554-40917555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10490261	chr2:40917564-40917565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs113922525	chr2:40917592-40917593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374536076	chr2:40917605-40917606	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557349393	chr2:40917614-40917615	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569286884	chr2:40917615-40917616	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146475926	chr2:40917639-40917640	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554928483	chr2:40917643-40917644	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189041407	chr2:40917659-40917660	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540093842	chr2:40917666-40917667	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141045791	chr2:40917683-40917684	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572284192	chr2:40917716-40917717	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576815333	chr2:40917717-40917718	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192996187	chr2:40917729-40917730	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555602439	chr2:40917744-40917745	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562110762	chr2:40917763-40917764	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371908351	chr2:40917765-40917766	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40905400-40917200	Weak transcription	Aorta	Aorta
2	chr2:40913600-40920200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:40915200-40917600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:40917200-40917800	Enhancers	Aorta	Aorta
5	chr2:40917400-40917600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:40917600-40918000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:40917600-40918200	Enhancers	Colon Smooth Muscle	Colon
8	chr2:40917800-40929600	Weak transcription	Aorta	Aorta
9	chr2:40918000-40918200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:40923600-40923800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:40923600-40924000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:40923600-40926200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:40924800-40925600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:40925000-40925600	Enhancers	Colon Smooth Muscle	Colon
15	chr2:40926000-40926400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:40926400-40927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:40926800-40928000	Enhancers	NHEK	skin
18	chr2:40927000-40927400	Enhancers	HUVEC	blood vessel
19	chr2:40927000-40927800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:40927200-40927800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:40927800-40928000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:40927800-40928600	Enhancers	Placenta	Placenta
23	chr2:40928000-40928200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:40939200-40939800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:40939200-40939800	Enhancers	HSMMtube	muscle
26	chr2:40939400-40940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:40940000-40944200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:40943200-40943600	Enhancers	HSMM	muscle
29	chr2:40943200-40947000	Weak transcription	Aorta	Aorta
30	chr2:40943400-40943600	Enhancers	HMEC	breast
31	chr2:40943400-40943600	Enhancers	HSMMtube	muscle
32	chr2:40943400-40944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:40943400-40944600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:40943600-40944200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:40943600-40944200	Weak transcription	HMEC	breast
36	chr2:40943600-40944200	Weak transcription	HSMM	muscle
37	chr2:40943600-40944200	Weak transcription	HSMMtube	muscle
38	chr2:40943800-40944800	Enhancers	NHEK	skin
39	chr2:40944000-40944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:40944000-40944600	Enhancers	Osteobl	bone
41	chr2:40944200-40944600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:40944200-40944600	Enhancers	Esophagus	oesophagus
43	chr2:40944200-40944800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:40944200-40944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:40944200-40944800	Enhancers	HMEC	breast
46	chr2:40944200-40946600	Active TSS	HSMM	muscle
47	chr2:40944200-40946800	Active TSS	HSMMtube	muscle
48	chr2:40944200-40947000	Enhancers	Colon Smooth Muscle	Colon
49	chr2:40944400-40944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:40944400-40944800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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