Variant report

Variant	esv2754698
Chromosome Location	chr2:40922098-40949606
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: 797 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1003618	chr2:40922098-40922099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562147917	chr2:40922109-40922110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575493423	chr2:40922126-40922127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146088257	chr2:40922127-40922128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553560618	chr2:40922136-40922137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528713832	chr2:40922184-40922185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546765529	chr2:40922200-40922201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115067905	chr2:40922250-40922251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571900580	chr2:40922260-40922261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1003617	chr2:40922298-40922299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs532046493	chr2:40922328-40922329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569288540	chr2:40922347-40922348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34861210	chr2:40922361-40922362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547385650	chr2:40922369-40922370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370435683	chr2:40922401-40922402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1003616	chr2:40922408-40922409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77463585	chr2:40922416-40922417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6724313	chr2:40922438-40922439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs59300248	chr2:40922439-40922440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534033471	chr2:40922447-40922448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6724323	chr2:40922457-40922458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576483665	chr2:40922467-40922468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17026498	chr2:40922513-40922514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10201594	chr2:40922561-40922562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574397126	chr2:40922567-40922568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542932685	chr2:40922629-40922630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79393488	chr2:40922632-40922633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573350911	chr2:40922666-40922667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386645265	chr2:40922676-40922677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540771811	chr2:40922678-40922679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150763696	chr2:40922767-40922768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188223291	chr2:40922783-40922784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115221773	chr2:40922786-40922787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375902156	chr2:40922790-40922791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112804496	chr2:40922797-40922798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530140585	chr2:40922798-40922799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537683724	chr2:40922814-40922815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548178639	chr2:40922834-40922835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537251377	chr2:40922893-40922894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192278617	chr2:40922918-40922919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149954160	chr2:40923002-40923003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6710038	chr2:40923006-40923007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141957835	chr2:40923007-40923008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577062884	chr2:40923036-40923037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370216156	chr2:40923042-40923043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541132968	chr2:40923062-40923063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537521260	chr2:40923069-40923070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116698266	chr2:40923075-40923076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35912892	chr2:40923105-40923106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369524754	chr2:40923138-40923139	Weak transcription	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40917800-40929600	Weak transcription	Aorta	Aorta
2	chr2:40923600-40923800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:40923600-40924000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:40923600-40926200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:40924800-40925600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:40925000-40925600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:40926000-40926400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:40926400-40927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:40926800-40928000	Enhancers	NHEK	skin
10	chr2:40927000-40927400	Enhancers	HUVEC	blood vessel
11	chr2:40927000-40927800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:40927200-40927800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:40927800-40928000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:40927800-40928600	Enhancers	Placenta	Placenta
15	chr2:40928000-40928200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:40939200-40939800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:40939200-40939800	Enhancers	HSMMtube	muscle
18	chr2:40939400-40940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:40940000-40944200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40943200-40943600	Enhancers	HSMM	muscle
21	chr2:40943200-40947000	Weak transcription	Aorta	Aorta
22	chr2:40943400-40943600	Enhancers	HMEC	breast
23	chr2:40943400-40943600	Enhancers	HSMMtube	muscle
24	chr2:40943400-40944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:40943400-40944600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:40943600-40944200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:40943600-40944200	Weak transcription	HMEC	breast
28	chr2:40943600-40944200	Weak transcription	HSMM	muscle
29	chr2:40943600-40944200	Weak transcription	HSMMtube	muscle
30	chr2:40943800-40944800	Enhancers	NHEK	skin
31	chr2:40944000-40944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:40944000-40944600	Enhancers	Osteobl	bone
33	chr2:40944200-40944600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:40944200-40944600	Enhancers	Esophagus	oesophagus
35	chr2:40944200-40944800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:40944200-40944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:40944200-40944800	Enhancers	HMEC	breast
38	chr2:40944200-40946600	Active TSS	HSMM	muscle
39	chr2:40944200-40946800	Active TSS	HSMMtube	muscle
40	chr2:40944200-40947000	Enhancers	Colon Smooth Muscle	Colon
41	chr2:40944400-40944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:40944400-40944800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:40944400-40944800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:40944400-40944800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:40944400-40945000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:40944400-40945200	Enhancers	NHDF-Ad	bronchial
47	chr2:40944600-40948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:40944600-40948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:40944600-40949000	Weak transcription	Osteobl	bone
50	chr2:40944600-40949600	Weak transcription	Esophagus	oesophagus

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