Variant report

Variant	nsv1005758
Chromosome Location	chr2:40349403-40381369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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	chr2:40365962..40367921-chr2:40369317..40371065,2	MCF-7	breast:
5	chr2:40358744..40360269-chr2:40362071..40363765,2	K562	blood:
6	chr2:40358658..40360428-chr2:40361170..40364164,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-2	chr2:40350286-40350414	ENSG00000227028.2
2	lnc-TMEM178-2	chr2:40350286-40350414	ENSG00000227028.2

No data

Extended variants
information (count: 1433 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1433 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12470980	chr2:40349403-40349404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553029364	chr2:40349479-40349480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571153824	chr2:40349507-40349508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539471644	chr2:40349523-40349524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186720341	chr2:40349524-40349525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6704907	chr2:40349631-40349632	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116337994	chr2:40349651-40349652	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542629617	chr2:40349674-40349675	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554232750	chr2:40349694-40349695	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572780355	chr2:40349745-40349746	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12466767	chr2:40349757-40349758	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs564965445	chr2:40349777-40349778	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533955971	chr2:40349802-40349803	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555748718	chr2:40349846-40349847	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145774737	chr2:40349869-40349870	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191386783	chr2:40349871-40349872	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545572668	chr2:40349875-40349876	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78429333	chr2:40349916-40349917	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2373791	chr2:40349965-40349966	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117282869	chr2:40349968-40349969	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567583916	chr2:40350002-40350003	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35424315	chr2:40350020-40350021	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546727771	chr2:40350039-40350040	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144542462	chr2:40350103-40350104	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7586346	chr2:40350105-40350106	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538447313	chr2:40350114-40350115	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556849520	chr2:40350134-40350135	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569148343	chr2:40350158-40350159	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188146973	chr2:40350168-40350169	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370320252	chr2:40350202-40350203	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554826329	chr2:40350206-40350207	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115095445	chr2:40350212-40350213	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34216356	chr2:40350215-40350216	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375672475	chr2:40350222-40350223	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138393792	chr2:40350238-40350239	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193153376	chr2:40350256-40350257	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2373792	chr2:40350271-40350272	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs545635936	chr2:40350287-40350288	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs185194946	chr2:40350293-40350294	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs531113473	chr2:40350309-40350310	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs190484494	chr2:40350312-40350313	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs192569128	chr2:40350343-40350344	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs561615001	chr2:40350346-40350347	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573127433	chr2:40350385-40350386	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs79047956	chr2:40350397-40350398	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs183684708	chr2:40350430-40350431	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571426862	chr2:40350487-40350488	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532435297	chr2:40350489-40350490	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551038240	chr2:40350535-40350536	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568983359	chr2:40350539-40350540	Weak transcription Enhancers Active TSS Strong transcription 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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
2	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
3	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:40331200-40350200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:40331200-40351200	Weak transcription	Fetal Stomach	stomach
6	chr2:40333000-40351000	Weak transcription	Aorta	Aorta
7	chr2:40333400-40354400	Weak transcription	NH-A	brain
8	chr2:40334600-40354800	Weak transcription	Fetal Brain Female	brain
9	chr2:40340600-40351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:40340800-40350000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:40341600-40350200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:40341600-40357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:40341800-40350800	Weak transcription	Right Atrium	heart
14	chr2:40342400-40349800	Weak transcription	Osteobl	bone
15	chr2:40342800-40357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:40343000-40349600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:40343000-40350200	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:40343000-40351000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:40343000-40354800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:40343400-40350600	Weak transcription	Dnd41	blood
21	chr2:40345000-40350400	Weak transcription	HSMM	muscle
22	chr2:40345200-40350200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:40345600-40349800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:40346400-40350000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:40347000-40355800	Enhancers	Fetal Thymus	thymus
26	chr2:40347600-40350400	Weak transcription	HSMMtube	muscle
27	chr2:40347600-40354000	Weak transcription	Left Ventricle	heart
28	chr2:40347800-40349600	Enhancers	Fetal Heart	heart
29	chr2:40349200-40350000	Enhancers	Thymus	Thymus
30	chr2:40349600-40350400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:40349600-40351600	Enhancers	Stomach Mucosa	stomach
32	chr2:40349600-40352600	Genic enhancers	Fetal Heart	heart
33	chr2:40349800-40358200	Enhancers	Osteobl	bone
34	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:40350000-40351000	Weak transcription	Thymus	Thymus
36	chr2:40350000-40351600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr2:40350000-40352400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:40350200-40350400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:40350200-40350400	Enhancers	Fetal Brain Male	brain
40	chr2:40350200-40350600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:40350200-40350800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:40350200-40350800	Enhancers	NHDF-Ad	bronchial
43	chr2:40350200-40351600	Enhancers	Colon Smooth Muscle	Colon
44	chr2:40350200-40356400	Enhancers	NHLF	lung
45	chr2:40350200-40358000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:40350400-40350600	Enhancers	HSMMtube	muscle
47	chr2:40350400-40350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:40350400-40350800	Weak transcription	Fetal Brain Male	brain
49	chr2:40350400-40351000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:40350400-40351600	Enhancers	HSMM	muscle

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