Variant report

Variant	nsv873909
Chromosome Location	chr2:40358526-40371095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40358744..40360269-chr2:40362071..40363765,2	K562	blood:
2	chr2:40365962..40367921-chr2:40369317..40371065,2	MCF-7	breast:
3	chr2:40358658..40360428-chr2:40361170..40364164,2	MCF-7	breast:
4	chr2:40358658..40360428-chr2:40361170..40364164,2	MCF-7	breast:
5	chr2:40365962..40367921-chr2:40369317..40371065,2	MCF-7	breast:
6	chr2:40358744..40360269-chr2:40362071..40363765,2	K562	blood:

Extended variants
information (count: 576 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:576 , 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	rs918049	chr2:40358526-40358527	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145507340	chr2:40358531-40358532	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568505147	chr2:40358575-40358576	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535811049	chr2:40358576-40358577	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369585406	chr2:40358613-40358614	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184377861	chr2:40358619-40358620	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs4952469	chr2:40358637-40358638	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148438195	chr2:40358665-40358666	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs142390525	chr2:40358741-40358742	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs367950026	chr2:40358777-40358778	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73927119	chr2:40358808-40358809	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368795617	chr2:40358828-40358829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151292349	chr2:40358832-40358833	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555233240	chr2:40358839-40358840	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141766111	chr2:40358875-40358876	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147103205	chr2:40358920-40358921	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559414056	chr2:40358925-40358926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57225450	chr2:40358937-40358938	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545064773	chr2:40358949-40358950	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189206355	chr2:40358967-40358968	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146949030	chr2:40358993-40358994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74315975	chr2:40358998-40358999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200867720	chr2:40358999-40359000	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386390016	chr2:40359023-40359024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34861282	chr2:40359024-40359025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75243348	chr2:40359025-40359026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182211821	chr2:40359225-40359226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572766405	chr2:40359293-40359294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147746576	chr2:40359296-40359297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368877739	chr2:40359298-40359299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs918048	chr2:40359302-40359303	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529329518	chr2:40359304-40359305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547441822	chr2:40359321-40359322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142341478	chr2:40359332-40359333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576106859	chr2:40359345-40359346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187590336	chr2:40359356-40359357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190725137	chr2:40359366-40359367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150204309	chr2:40359409-40359410	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181058017	chr2:40359440-40359441	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185511215	chr2:40359499-40359500	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs918047	chr2:40359514-40359515	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs918046	chr2:40359569-40359570	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540909853	chr2:40359582-40359583	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6739058	chr2:40359604-40359605	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577561684	chr2:40359608-40359609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190278295	chr2:40359637-40359638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563353220	chr2:40359668-40359669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531948279	chr2:40359673-40359674	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6544312	chr2:40359680-40359681	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138792360	chr2:40359698-40359699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:40351600-40360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:40354000-40358600	Enhancers	Colon Smooth Muscle	Colon
5	chr2:40354400-40358800	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:40354600-40366600	Weak transcription	Lung	lung
7	chr2:40355000-40366200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:40355400-40383800	Weak transcription	Small Intestine	intestine
9	chr2:40355800-40365600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:40355800-40370000	Weak transcription	Fetal Brain Male	brain
11	chr2:40356000-40367400	Weak transcription	Fetal Brain Female	brain
12	chr2:40356800-40359000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:40356800-40375000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:40357000-40359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40357400-40358600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:40357600-40358800	Flanking Active TSS	Fetal Heart	heart
17	chr2:40357600-40359000	Enhancers	Right Ventricle	heart
18	chr2:40357600-40374000	Weak transcription	HSMMtube	muscle
19	chr2:40357800-40358600	Weak transcription	Left Ventricle	heart
20	chr2:40357800-40358800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:40357800-40366200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:40357800-40366200	Weak transcription	Fetal Stomach	stomach
23	chr2:40357800-40366600	Weak transcription	Brain Anterior Caudate	brain
24	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:40358000-40359000	Strong transcription	Dnd41	blood
26	chr2:40358000-40364000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:40358000-40365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:40358000-40365600	Weak transcription	Aorta	Aorta
29	chr2:40358000-40392200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:40358200-40358600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:40358200-40364800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:40358200-40365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:40358200-40366000	Weak transcription	Osteobl	bone
34	chr2:40358200-40392200	Weak transcription	NHLF	lung
35	chr2:40358400-40359000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:40358400-40359000	Strong transcription	HSMM	muscle
37	chr2:40358400-40359600	Enhancers	Ovary	ovary
38	chr2:40358600-40358800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:40358600-40358800	Enhancers	Right Atrium	heart
40	chr2:40358600-40359000	Enhancers	Left Ventricle	heart
41	chr2:40358600-40363200	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:40358800-40359400	Enhancers	Fetal Heart	heart
43	chr2:40358800-40365600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:40358800-40369200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:40358800-40389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:40359000-40361800	Weak transcription	Dnd41	blood
47	chr2:40359000-40362200	Weak transcription	Left Ventricle	heart
48	chr2:40359000-40363800	Weak transcription	HSMM	muscle
49	chr2:40359000-40365200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:40359000-40365400	Weak transcription	Right Ventricle	heart

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