Variant report

Variant	nsv961752
Chromosome Location	chr2:40929037-40950223
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: 526 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577305052	chr2:40929037-40929038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558776175	chr2:40929134-40929135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544358969	chr2:40929137-40929138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149591267	chr2:40929155-40929156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576051970	chr2:40929166-40929167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574707910	chr2:40929169-40929170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143991081	chr2:40929183-40929184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559968065	chr2:40929278-40929279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543071913	chr2:40929306-40929307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114174280	chr2:40929364-40929365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563922285	chr2:40929368-40929369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17540073	chr2:40929396-40929397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2373933	chr2:40929408-40929409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111464727	chr2:40929497-40929498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575229724	chr2:40929501-40929502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377460689	chr2:40929555-40929556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368841982	chr2:40929557-40929558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535064772	chr2:40929585-40929586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181697039	chr2:40939220-40939221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4101520	chr2:40939221-40939222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186145357	chr2:40939280-40939281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566469342	chr2:40939291-40939292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189344407	chr2:40939318-40939319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527345677	chr2:40939319-40939320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181927892	chr2:40939321-40939322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571879116	chr2:40939392-40939393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7598736	chr2:40939457-40939458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557607751	chr2:40939463-40939464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569437261	chr2:40939465-40939466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536753339	chr2:40939492-40939493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554718494	chr2:40939535-40939536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374540851	chr2:40939545-40939546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144578807	chr2:40939580-40939581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570785244	chr2:40939620-40939621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116592666	chr2:40939624-40939625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367793885	chr2:40939627-40939628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576751143	chr2:40939629-40939630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544067703	chr2:40939664-40939665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562353272	chr2:40939680-40939681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371206077	chr2:40939707-40939708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537581182	chr2:40939713-40939714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185913913	chr2:40939728-40939729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541624973	chr2:40939738-40939739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560032815	chr2:40939746-40939747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527366818	chr2:40939758-40939759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551911665	chr2:40939782-40939783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190940220	chr2:40939793-40939794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556218288	chr2:40939820-40939821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532868702	chr2:40939952-40939953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577787316	chr2:40939984-40939985	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40917800-40929600	Weak transcription	Aorta	Aorta
2	chr2:40939200-40939800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:40939200-40939800	Enhancers	HSMMtube	muscle
4	chr2:40939400-40940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:40940000-40944200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:40943200-40943600	Enhancers	HSMM	muscle
7	chr2:40943200-40947000	Weak transcription	Aorta	Aorta
8	chr2:40943400-40943600	Enhancers	HMEC	breast
9	chr2:40943400-40943600	Enhancers	HSMMtube	muscle
10	chr2:40943400-40944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:40943400-40944600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:40943600-40944200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:40943600-40944200	Weak transcription	HMEC	breast
14	chr2:40943600-40944200	Weak transcription	HSMM	muscle
15	chr2:40943600-40944200	Weak transcription	HSMMtube	muscle
16	chr2:40943800-40944800	Enhancers	NHEK	skin
17	chr2:40944000-40944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:40944000-40944600	Enhancers	Osteobl	bone
19	chr2:40944200-40944600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40944200-40944600	Enhancers	Esophagus	oesophagus
21	chr2:40944200-40944800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:40944200-40944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:40944200-40944800	Enhancers	HMEC	breast
24	chr2:40944200-40946600	Active TSS	HSMM	muscle
25	chr2:40944200-40946800	Active TSS	HSMMtube	muscle
26	chr2:40944200-40947000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:40944400-40944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:40944400-40944800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:40944400-40944800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:40944400-40944800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:40944400-40945000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:40944400-40945200	Enhancers	NHDF-Ad	bronchial
33	chr2:40944600-40948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:40944600-40948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:40944600-40949000	Weak transcription	Osteobl	bone
36	chr2:40944600-40949600	Weak transcription	Esophagus	oesophagus
37	chr2:40944800-40945200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:40944800-40946000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:40944800-40946400	Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:40944800-40947000	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:40944800-40948400	Weak transcription	NHEK	skin
42	chr2:40944800-40948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:40944800-40948600	Weak transcription	HMEC	breast
44	chr2:40945200-40945600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:40945200-40948600	Weak transcription	NHDF-Ad	bronchial
46	chr2:40945600-40946200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:40945600-40948600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:40946000-40948600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:40946200-40947000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:40946400-40947200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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