Variant report

Variant	esv3457578
Chromosome Location	chr2:40927064-40949267
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: 582 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115283476	chr2:40927114-40927115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377557305	chr2:40927132-40927133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186661960	chr2:40927195-40927196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57770208	chr2:40927201-40927202	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139491698	chr2:40927224-40927225	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373947071	chr2:40927231-40927232	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78773867	chr2:40927237-40927238	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549429536	chr2:40927249-40927250	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs76450323	chr2:40927265-40927266	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534974995	chr2:40927338-40927339	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546703719	chr2:40927367-40927368	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546917776	chr2:40927383-40927384	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571614554	chr2:40927403-40927404	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10177047	chr2:40927433-40927434	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556908776	chr2:40927452-40927453	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10177056	chr2:40927466-40927467	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10200561	chr2:40927509-40927510	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560086721	chr2:40927517-40927518	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74841808	chr2:40927518-40927519	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs115993945	chr2:40927524-40927525	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144972865	chr2:40927526-40927527	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190430274	chr2:40927536-40927537	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368544374	chr2:40927573-40927574	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577953551	chr2:40927601-40927602	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182757210	chr2:40927622-40927623	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563751706	chr2:40927634-40927635	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531099205	chr2:40927711-40927712	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549218621	chr2:40927717-40927718	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148978556	chr2:40927754-40927755	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528592112	chr2:40927766-40927767	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547055199	chr2:40927768-40927769	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571651407	chr2:40927812-40927813	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538959968	chr2:40927830-40927831	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1116005	chr2:40927841-40927842	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374647956	chr2:40927865-40927866	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143740404	chr2:40927866-40927867	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199787748	chr2:40927868-40927869	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554467419	chr2:40927885-40927886	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187447638	chr2:40927917-40927918	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192305317	chr2:40927930-40927931	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146607344	chr2:40927952-40927953	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576402271	chr2:40927959-40927960	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563106759	chr2:40927965-40927966	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530630496	chr2:40927973-40927974	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79626943	chr2:40927989-40927990	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551944169	chr2:40927998-40927999	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557591033	chr2:40928007-40928008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141396256	chr2:40928015-40928016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543251994	chr2:40928041-40928042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561312114	chr2:40928050-40928051	Weak transcription 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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40917800-40929600	Weak transcription	Aorta	Aorta
2	chr2:40926400-40927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:40926800-40928000	Enhancers	NHEK	skin
4	chr2:40927000-40927400	Enhancers	HUVEC	blood vessel
5	chr2:40927000-40927800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:40927200-40927800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:40927800-40928000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:40927800-40928600	Enhancers	Placenta	Placenta
9	chr2:40928000-40928200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:40939200-40939800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:40939200-40939800	Enhancers	HSMMtube	muscle
12	chr2:40939400-40940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:40940000-40944200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:40943200-40943600	Enhancers	HSMM	muscle
15	chr2:40943200-40947000	Weak transcription	Aorta	Aorta
16	chr2:40943400-40943600	Enhancers	HMEC	breast
17	chr2:40943400-40943600	Enhancers	HSMMtube	muscle
18	chr2:40943400-40944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:40943400-40944600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:40943600-40944200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:40943600-40944200	Weak transcription	HMEC	breast
22	chr2:40943600-40944200	Weak transcription	HSMM	muscle
23	chr2:40943600-40944200	Weak transcription	HSMMtube	muscle
24	chr2:40943800-40944800	Enhancers	NHEK	skin
25	chr2:40944000-40944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:40944000-40944600	Enhancers	Osteobl	bone
27	chr2:40944200-40944600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:40944200-40944600	Enhancers	Esophagus	oesophagus
29	chr2:40944200-40944800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:40944200-40944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:40944200-40944800	Enhancers	HMEC	breast
32	chr2:40944200-40946600	Active TSS	HSMM	muscle
33	chr2:40944200-40946800	Active TSS	HSMMtube	muscle
34	chr2:40944200-40947000	Enhancers	Colon Smooth Muscle	Colon
35	chr2:40944400-40944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:40944400-40944800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:40944400-40944800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:40944400-40944800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:40944400-40945000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:40944400-40945200	Enhancers	NHDF-Ad	bronchial
41	chr2:40944600-40948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:40944600-40948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:40944600-40949000	Weak transcription	Osteobl	bone
44	chr2:40944600-40949600	Weak transcription	Esophagus	oesophagus
45	chr2:40944800-40945200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:40944800-40946000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:40944800-40946400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr2:40944800-40947000	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:40944800-40948400	Weak transcription	NHEK	skin
50	chr2:40944800-40948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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