Variant report

Variant	nsv873914
Chromosome Location	chr2:40573350-40586022
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	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:

Extended variants
information (count: 626 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10490049	chr2:40573350-40573351	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530726049	chr2:40573356-40573357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549158366	chr2:40573395-40573396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142039413	chr2:40573408-40573409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534584281	chr2:40573419-40573420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546602329	chr2:40573476-40573477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571140812	chr2:40573503-40573504	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369850422	chr2:40573541-40573542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143726423	chr2:40573546-40573547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556635304	chr2:40573547-40573548	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554964063	chr2:40573585-40573586	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574948362	chr2:40573609-40573610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537259250	chr2:40573694-40573695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113181892	chr2:40573733-40573734	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141325048	chr2:40573741-40573742	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368727663	chr2:40573744-40573745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574298666	chr2:40573788-40573789	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116685529	chr2:40573798-40573799	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs72943169	chr2:40573818-40573819	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577954048	chr2:40573827-40573828	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545063215	chr2:40573851-40573852	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563779158	chr2:40573901-40573902	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567984423	chr2:40573902-40573903	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12613022	chr2:40573923-40573924	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs79949900	chr2:40573940-40573941	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542799023	chr2:40573959-40573960	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183160223	chr2:40573989-40573990	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187632328	chr2:40574048-40574049	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373595395	chr2:40574199-40574200	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7561383	chr2:40574207-40574208	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs538250989	chr2:40574209-40574210	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550123082	chr2:40574221-40574222	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs11890040	chr2:40574269-40574270	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs192554310	chr2:40574290-40574291	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184133309	chr2:40574294-40574295	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574140711	chr2:40574332-40574333	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529678977	chr2:40574337-40574338	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187867281	chr2:40574343-40574344	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148030789	chr2:40574364-40574365	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375345575	chr2:40574369-40574370	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs545433685	chr2:40574377-40574378	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192705800	chr2:40574381-40574382	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377060005	chr2:40574382-40574383	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543127093	chr2:40574389-40574390	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs141715832	chr2:40574401-40574402	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371095660	chr2:40574412-40574413	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528272740	chr2:40574465-40574466	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546728864	chr2:40574468-40574469	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185056806	chr2:40574480-40574481	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150567542	chr2:40574530-40574531	Enhancers Weak transcription Flanking Active TSS Genic 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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40566200-40575600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:40568600-40575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:40569800-40573600	Enhancers	Osteobl	bone
7	chr2:40570200-40575600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:40570400-40574600	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
10	chr2:40570600-40574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:40571000-40573400	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:40571000-40573800	Enhancers	Fetal Stomach	stomach
13	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:40571400-40573400	Weak transcription	Aorta	Aorta
15	chr2:40571400-40574600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:40571400-40576000	Enhancers	Right Atrium	heart
17	chr2:40571400-40576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:40571600-40573600	Weak transcription	NH-A	brain
19	chr2:40571600-40575600	Weak transcription	HMEC	breast
20	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:40571800-40573400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:40571800-40573400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:40571800-40573600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40571800-40574600	Enhancers	Right Ventricle	heart
25	chr2:40572200-40573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:40572200-40573400	Weak transcription	HSMM	muscle
27	chr2:40572400-40573400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:40572400-40573400	Weak transcription	Ovary	ovary
29	chr2:40572400-40573400	Weak transcription	HSMMtube	muscle
30	chr2:40572400-40573400	Weak transcription	NHLF	lung
31	chr2:40572400-40573600	Weak transcription	Brain Angular Gyrus	brain
32	chr2:40572600-40573400	Weak transcription	Adipose Nuclei	Adipose
33	chr2:40573000-40573600	Weak transcription	Left Ventricle	heart
34	chr2:40573000-40574400	Flanking Active TSS	Fetal Heart	heart
35	chr2:40573200-40574000	Enhancers	Colon Smooth Muscle	Colon
36	chr2:40573200-40574800	Enhancers	Dnd41	blood
37	chr2:40573200-40577000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:40573400-40573600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:40573400-40573600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr2:40573400-40573800	Enhancers	Aorta	Aorta
41	chr2:40573400-40574000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:40573400-40574200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:40573400-40574400	Enhancers	Fetal Muscle Leg	muscle
44	chr2:40573400-40574600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:40573400-40574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:40573400-40574600	Enhancers	Adipose Nuclei	Adipose
47	chr2:40573400-40574600	Enhancers	Ovary	ovary
48	chr2:40573400-40574600	Enhancers	HSMMtube	muscle
49	chr2:40573400-40576800	Enhancers	NHLF	lung
50	chr2:40573400-40577200	Enhancers	HSMM	muscle

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