Variant report

Variant	esv3343138
Chromosome Location	chr2:40510648-40512796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4381820	chr2:40510670-40510671	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551112070	chr2:40510681-40510682	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188124454	chr2:40510683-40510684	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543128767	chr2:40510707-40510708	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536519021	chr2:40510716-40510717	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371430183	chr2:40510735-40510736	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369920595	chr2:40510766-40510767	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548190497	chr2:40510772-40510773	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34609846	chr2:40510792-40510793	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534052892	chr2:40510799-40510800	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78275595	chr2:40510843-40510844	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13026979	chr2:40510861-40510862	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537650576	chr2:40510863-40510864	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556298582	chr2:40510868-40510869	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116384217	chr2:40510889-40510890	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542130139	chr2:40510927-40510928	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553832107	chr2:40510934-40510935	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115693877	chr2:40510935-40510936	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545960377	chr2:40510977-40510978	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150812444	chr2:40510993-40510994	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550146919	chr2:40511002-40511003	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531388952	chr2:40511046-40511047	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544500690	chr2:40511054-40511055	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs180974166	chr2:40511106-40511107	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11904139	chr2:40511165-40511166	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548449493	chr2:40511217-40511218	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566571286	chr2:40511226-40511227	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185372428	chr2:40511263-40511264	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369398231	chr2:40511309-40511310	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570880649	chr2:40511323-40511324	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538305451	chr2:40511330-40511331	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371315686	chr2:40511334-40511335	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556119301	chr2:40511347-40511348	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374649655	chr2:40511379-40511380	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142841819	chr2:40511395-40511396	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535796766	chr2:40511402-40511403	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368965923	chr2:40511428-40511429	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189987609	chr2:40511482-40511483	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201564488	chr2:40511493-40511494	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76610655	chr2:40511495-40511496	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35227947	chr2:40511496-40511497	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35919721	chr2:40511503-40511504	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146106155	chr2:40511518-40511519	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181323628	chr2:40511519-40511520	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576071749	chr2:40511525-40511526	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543485849	chr2:40511589-40511590	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200704913	chr2:40511616-40511617	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562966450	chr2:40511618-40511619	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12614494	chr2:40511620-40511621	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565521559	chr2:40511657-40511658	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40500200-40514600	Weak transcription	Fetal Brain Male	brain
2	chr2:40503600-40514800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40504000-40510800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:40506200-40510800	Enhancers	HMEC	breast
5	chr2:40506400-40516800	Weak transcription	Small Intestine	intestine
6	chr2:40506600-40511000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:40506600-40514600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:40506800-40517200	Weak transcription	Dnd41	blood
9	chr2:40507400-40511000	Enhancers	NHEK	skin
10	chr2:40507600-40511200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40508000-40511400	Flanking Active TSS	HSMMtube	muscle
12	chr2:40508000-40517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:40508400-40511000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:40508600-40511400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:40509000-40514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:40509000-40519400	Weak transcription	Fetal Stomach	stomach
17	chr2:40509200-40512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:40509200-40517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:40509400-40510800	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:40509400-40511000	Active TSS	Aorta	Aorta
21	chr2:40509400-40511200	Active TSS	Ovary	ovary
22	chr2:40509600-40511200	Enhancers	Left Ventricle	heart
23	chr2:40509800-40510800	Flanking Active TSS	NHLF	lung
24	chr2:40509800-40511000	Enhancers	NHDF-Ad	bronchial
25	chr2:40510000-40510800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:40510000-40510800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:40510000-40511000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:40510000-40511000	Enhancers	Osteobl	bone
29	chr2:40510000-40511200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:40510000-40511400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:40510000-40512000	Weak transcription	Psoas Muscle	Psoas
32	chr2:40510000-40513600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:40510200-40511000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:40510200-40511200	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:40510200-40511200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:40510200-40512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:40510200-40513800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:40510200-40514000	Weak transcription	NH-A	brain
39	chr2:40510200-40514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:40510200-40514800	Weak transcription	Right Atrium	heart
41	chr2:40510400-40510800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr2:40510400-40510800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:40510400-40511000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:40510400-40511000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:40510400-40511000	Enhancers	Brain Substantia Nigra	brain
46	chr2:40510400-40511200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:40510400-40511400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:40510600-40510800	Flanking Active TSS	HSMM	muscle
49	chr2:40510600-40511000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr2:40510600-40511000	Enhancers	Fetal Muscle Leg	muscle

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