Variant report

Variant	nsv584063
Chromosome Location	chr2:190696924-190708287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190648774..190650494-chr2:190701394..190702901,2	MCF-7	breast:
2	chr2:190702622..190704522-chr2:191400412..191402253,2	K562	blood:
3	chr2:190693190..190695191-chr2:190697893..190700243,2	K562	blood:
4	chr2:190707467..190709544-chr2:190709954..190711600,2	K562	blood:
5	chr2:190696610..190698591-chr2:190698708..190701659,2	MCF-7	breast:
6	chr2:190694673..190697021-chr2:190708610..190710917,2	MCF-7	breast:
7	chr2:190696610..190698591-chr2:190698708..190701659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128699	chromatin interactions
ENSG00000064933	chromatin interactions

Extended variants
information (count: 402 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5743072	chr2:190696924-190696925	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529244223	chr2:190696927-190696928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550978985	chr2:190696947-190696948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569234997	chr2:190697031-190697032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146980151	chr2:190697060-190697061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5743073	chr2:190697072-190697073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367737040	chr2:190697101-190697102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115433039	chr2:190697138-190697139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533986634	chr2:190697156-190697157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5743074	chr2:190697170-190697171	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371741774	chr2:190697178-190697179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5743075	chr2:190697183-190697184	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556159144	chr2:190697278-190697279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5743076	chr2:190697294-190697295	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545062462	chr2:190697314-190697315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559820880	chr2:190697317-190697318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549463045	chr2:190697337-190697338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536811936	chr2:190697338-190697339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5743077	chr2:190697339-190697340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs529624251	chr2:190697383-190697384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371820326	chr2:190697411-190697412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5743078	chr2:190697425-190697426	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181704354	chr2:190697449-190697450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551811415	chr2:190697454-190697455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112813281	chr2:190697473-190697474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186057187	chr2:190697485-190697486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533972988	chr2:190697494-190697495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549227891	chr2:190697500-190697501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372733241	chr2:190697532-190697533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567552015	chr2:190697541-190697542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538110198	chr2:190697556-190697557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556208897	chr2:190697591-190697592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577521017	chr2:190697598-190697599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113754971	chr2:190697651-190697652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5743079	chr2:190697655-190697656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538267786	chr2:190697690-190697691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541448669	chr2:190697700-190697701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5743080	chr2:190697703-190697704	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79141069	chr2:190697753-190697754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77015293	chr2:190697754-190697755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561909849	chr2:190697796-190697797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574171510	chr2:190697831-190697832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185981148	chr2:190697835-190697836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373967311	chr2:190697900-190697901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563048852	chr2:190697931-190697932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190889845	chr2:190697937-190697938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115215162	chr2:190697940-190697941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534237782	chr2:190697961-190697962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560547073	chr2:190698038-190698039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138725421	chr2:190698039-190698040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190713400	Weak transcription	Gastric	stomach
2	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
4	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:190663000-190701600	Weak transcription	Psoas Muscle	Psoas
10	chr2:190663000-190712800	Weak transcription	Aorta	Aorta
11	chr2:190663200-190700600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:190663200-190712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:190669600-190709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:190669600-190713200	Weak transcription	Ovary	ovary
17	chr2:190669800-190709000	Weak transcription	Placenta	Placenta
18	chr2:190670800-190712800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:190671000-190719600	Weak transcription	NH-A	brain
20	chr2:190676200-190712400	Weak transcription	K562	blood
21	chr2:190677000-190709400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:190681000-190743000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:190683800-190709800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:190684000-190700400	Weak transcription	A549	lung
25	chr2:190684000-190712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:190684000-190712800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:190684000-190743600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:190684400-190698800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:190684400-190700600	Weak transcription	Fetal Brain Male	brain
30	chr2:190684600-190709800	Weak transcription	HMEC	breast
31	chr2:190684600-190712600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:190684600-190712600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:190685000-190700800	Weak transcription	Fetal Lung	lung
34	chr2:190685000-190712600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:190685000-190736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:190685200-190700600	Weak transcription	HSMMtube	muscle
37	chr2:190685200-190700800	Weak transcription	Fetal Brain Female	brain
38	chr2:190685200-190706200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:190685200-190708400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:190685400-190701800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:190685400-190712800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:190685400-190739400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:190685400-190741800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:190685600-190709600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:190685600-190712800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:190685800-190698800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:190685800-190702000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:190685800-190708600	Weak transcription	Liver	Liver
49	chr2:190685800-190708800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:190685800-190709600	Weak transcription	Fetal Muscle Trunk	muscle

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