Variant report

Variant	nsv873908
Chromosome Location	chr2:40351453-40371095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40365962..40367921-chr2:40369317..40371065,2	MCF-7	breast:
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	chr2:40358744..40360269-chr2:40362071..40363765,2	K562	blood:
6	chr2:40358744..40360269-chr2:40362071..40363765,2	K562	blood:

Extended variants
information (count: 888 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs888073	chr2:40351453-40351454	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573085033	chr2:40351457-40351458	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566444136	chr2:40351478-40351479	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147465627	chr2:40351504-40351505	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181016679	chr2:40351539-40351540	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138370389	chr2:40351559-40351560	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116431020	chr2:40351569-40351570	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372512769	chr2:40351574-40351575	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562863411	chr2:40351589-40351590	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530175701	chr2:40351649-40351650	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548689058	chr2:40351652-40351653	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186530472	chr2:40351703-40351704	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534022890	chr2:40351728-40351729	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189581836	chr2:40351740-40351741	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560419468	chr2:40351758-40351759	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199503319	chr2:40351770-40351771	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2373793	chr2:40351773-40351774	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552548733	chr2:40351781-40351782	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570716451	chr2:40351786-40351787	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17559580	chr2:40351790-40351791	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549720156	chr2:40351855-40351856	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568076955	chr2:40351857-40351858	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181633637	chr2:40351937-40351938	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374794929	chr2:40351940-40351941	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553427893	chr2:40351976-40351977	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566770522	chr2:40352012-40352013	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530401312	chr2:40352022-40352023	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538110789	chr2:40352026-40352027	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114984979	chr2:40352042-40352043	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558828856	chr2:40352044-40352045	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577438340	chr2:40352062-40352063	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369160545	chr2:40352074-40352075	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544297583	chr2:40352100-40352101	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556556110	chr2:40352111-40352112	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186805232	chr2:40352137-40352138	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371539866	chr2:40352146-40352147	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542391135	chr2:40352168-40352169	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560561494	chr2:40352172-40352173	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143897981	chr2:40352207-40352208	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73927115	chr2:40352221-40352222	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183157594	chr2:40352238-40352239	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186400745	chr2:40352261-40352262	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552125180	chr2:40352275-40352276	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12478057	chr2:40352286-40352287	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs759444	chr2:40352313-40352314	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189686745	chr2:40352314-40352315	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546921866	chr2:40352334-40352335	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147276145	chr2:40352336-40352337	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182768857	chr2:40352359-40352360	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534145412	chr2:40352377-40352378	Weak transcription Enhancers 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:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
2	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:40333400-40354400	Weak transcription	NH-A	brain
4	chr2:40334600-40354800	Weak transcription	Fetal Brain Female	brain
5	chr2:40341600-40357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:40342800-40357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:40343000-40354800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40347000-40355800	Enhancers	Fetal Thymus	thymus
9	chr2:40347600-40354000	Weak transcription	Left Ventricle	heart
10	chr2:40349600-40351600	Enhancers	Stomach Mucosa	stomach
11	chr2:40349600-40352600	Genic enhancers	Fetal Heart	heart
12	chr2:40349800-40358200	Enhancers	Osteobl	bone
13	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40350000-40351600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:40350000-40352400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:40350200-40351600	Enhancers	Colon Smooth Muscle	Colon
17	chr2:40350200-40356400	Enhancers	NHLF	lung
18	chr2:40350200-40358000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:40350400-40351600	Enhancers	HSMM	muscle
20	chr2:40350400-40352400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:40350600-40351600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:40350600-40351800	Enhancers	Dnd41	blood
23	chr2:40350800-40356800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:40351000-40351600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:40351000-40351800	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:40351000-40351800	Enhancers	HSMMtube	muscle
27	chr2:40351000-40354400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:40351000-40358200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:40351200-40351600	Enhancers	Right Atrium	heart
30	chr2:40351200-40351800	Enhancers	Fetal Stomach	stomach
31	chr2:40351200-40355400	Weak transcription	Ovary	ovary
32	chr2:40351200-40358000	Enhancers	NHDF-Ad	bronchial
33	chr2:40351400-40351800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:40351400-40352200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:40351400-40355000	Weak transcription	Fetal Brain Male	brain
36	chr2:40351400-40355600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:40351400-40357000	Weak transcription	Aorta	Aorta
38	chr2:40351600-40351800	Weak transcription	Stomach Mucosa	stomach
39	chr2:40351600-40352400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:40351600-40354000	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:40351600-40354600	Genic enhancers	HSMM	muscle
42	chr2:40351600-40354800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:40351600-40354800	Weak transcription	Right Atrium	heart
44	chr2:40351600-40360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:40351800-40353200	Weak transcription	Dnd41	blood
46	chr2:40351800-40354400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:40351800-40354400	Weak transcription	HSMMtube	muscle
48	chr2:40351800-40354600	Weak transcription	Fetal Stomach	stomach
49	chr2:40351800-40354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:40352200-40354600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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