Variant report

Variant	nsv1008619
Chromosome Location	chr2:36398615-36474967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36426823..36429485-chr2:36432838..36434351,2	MCF-7	breast:
2	chr2:36463029..36465414-chr20:47894852..47896594,2	K562	blood:
3	chr2:36426823..36429485-chr2:36432838..36434351,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000209042	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000124201	chromatin interactions

Extended variants
information (count: 2090 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2090 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142945377	chr2:36398628-36398629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6717290	chr2:36398648-36398649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112989161	chr2:36398689-36398690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531302733	chr2:36398729-36398730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549928716	chr2:36398731-36398732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568145458	chr2:36398739-36398740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535686296	chr2:36398755-36398756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528598546	chr2:36398771-36398772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565820891	chr2:36398812-36398813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539368059	chr2:36398858-36398859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546978818	chr2:36398880-36398881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529575393	chr2:36398882-36398883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558003847	chr2:36398898-36398899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6717847	chr2:36398904-36398905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537032566	chr2:36398912-36398913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555483521	chr2:36398935-36398936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573795511	chr2:36398941-36398942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570909170	chr2:36398943-36398944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559709390	chr2:36399038-36399039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539480254	chr2:36399059-36399060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545396076	chr2:36399061-36399062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563947887	chr2:36399086-36399087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536520458	chr2:36399095-36399096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543430778	chr2:36399119-36399120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78435141	chr2:36399145-36399146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528983422	chr2:36399218-36399219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17404177	chr2:36399224-36399225	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs565759117	chr2:36399225-36399226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113093562	chr2:36399249-36399250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533130149	chr2:36399298-36399299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551421267	chr2:36399306-36399307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187638593	chr2:36399317-36399318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1167459	chr2:36399318-36399319	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs555347979	chr2:36399340-36399341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567283753	chr2:36399365-36399366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369628731	chr2:36399378-36399379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6736132	chr2:36399395-36399396	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553400731	chr2:36399406-36399407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151093205	chr2:36399432-36399433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545565232	chr2:36399433-36399434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576483641	chr2:36399468-36399469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538194752	chr2:36399470-36399471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557726302	chr2:36399474-36399475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576003900	chr2:36399490-36399491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543296323	chr2:36399494-36399495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140753072	chr2:36399513-36399514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528853010	chr2:36399523-36399524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs714271	chr2:36399540-36399541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs573975086	chr2:36399582-36399583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559385379	chr2:36399584-36399585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	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	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36395200-36403400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:36395600-36400200	Weak transcription	HMEC	breast
3	chr2:36397800-36401400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:36398400-36399400	Weak transcription	Fetal Kidney	kidney
5	chr2:36399200-36400400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:36399400-36401000	Enhancers	Fetal Kidney	kidney
7	chr2:36399400-36401400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:36400000-36400200	Enhancers	Esophagus	oesophagus
9	chr2:36400200-36400800	Weak transcription	Esophagus	oesophagus
10	chr2:36400200-36402000	Enhancers	HMEC	breast
11	chr2:36400400-36401400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:36400600-36401600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:36400800-36401200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:36400800-36401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:36400800-36401400	Enhancers	Brain Hippocampus Middle	brain
16	chr2:36400800-36401400	Enhancers	Esophagus	oesophagus
17	chr2:36401000-36401400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:36401000-36401400	Enhancers	Pancreas	Pancrea
19	chr2:36401000-36401400	Enhancers	NHEK	skin
20	chr2:36401000-36401600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:36401400-36404400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:36401400-36404600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:36401400-36405000	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:36401400-36405400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:36401600-36402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:36402000-36402200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:36402000-36404200	Weak transcription	HMEC	breast
28	chr2:36402200-36404400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:36403400-36403800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:36403800-36406400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:36404200-36405600	Enhancers	HMEC	breast
32	chr2:36404400-36405800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:36404400-36406000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:36404600-36404800	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:36404600-36405800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:36404600-36405800	Enhancers	Brain Substantia Nigra	brain
37	chr2:36404800-36405400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:36405000-36405800	Enhancers	Brain Hippocampus Middle	brain
39	chr2:36405000-36405800	Enhancers	NH-A	brain
40	chr2:36405200-36406000	Enhancers	Brain Angular Gyrus	brain
41	chr2:36405200-36406000	Enhancers	HUVEC	blood vessel
42	chr2:36405400-36405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:36405400-36406000	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:36406400-36408400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:36406400-36413800	Weak transcription	Gastric	stomach
46	chr2:36408400-36409000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:36408600-36408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:36413800-36414000	Enhancers	Gastric	stomach
49	chr2:36414000-36414600	Weak transcription	Gastric	stomach
50	chr2:36414000-36416400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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