Variant report

Variant	nsv823191
Chromosome Location	chr5:118250776-118254318
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	chr5:118240942..118242563-chr5:118250072..118251996,2	MCF-7	breast:

Extended variants
information (count: 159 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149459046	chr5:118250860-118250861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562859044	chr5:118250872-118250873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531913702	chr5:118250895-118250896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552022623	chr5:118250927-118250928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565353345	chr5:118250937-118250938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527918067	chr5:118250964-118250965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112781114	chr5:118251012-118251013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189565697	chr5:118251016-118251017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567067855	chr5:118251051-118251052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199654152	chr5:118251070-118251071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112682040	chr5:118251090-118251091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535930742	chr5:118251108-118251109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565490755	chr5:118251109-118251110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182342440	chr5:118251115-118251116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538575116	chr5:118251119-118251120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558849456	chr5:118251127-118251128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572225806	chr5:118251131-118251132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534862389	chr5:118251133-118251134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189051530	chr5:118251134-118251135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111946943	chr5:118251138-118251139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543096709	chr5:118251139-118251140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562761531	chr5:118251215-118251216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548487626	chr5:118251217-118251218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568276455	chr5:118251219-118251220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565596466	chr5:118251220-118251221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549124397	chr5:118251226-118251227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527974712	chr5:118251272-118251273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113300513	chr5:118251321-118251322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561100682	chr5:118251331-118251332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529763201	chr5:118251349-118251350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114532954	chr5:118251364-118251365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569638149	chr5:118251368-118251369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538657625	chr5:118251370-118251371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551882988	chr5:118251376-118251377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143368599	chr5:118251378-118251379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17144813	chr5:118251435-118251436	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554806868	chr5:118251466-118251467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574656603	chr5:118251508-118251509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188244428	chr5:118251512-118251513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34890144	chr5:118251591-118251592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533480345	chr5:118251631-118251632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556652190	chr5:118251773-118251774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576435466	chr5:118251786-118251787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545429927	chr5:118251813-118251814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192249898	chr5:118251865-118251866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572412542	chr5:118251910-118251911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147293464	chr5:118251914-118251915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372671898	chr5:118251932-118251933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375889897	chr5:118251942-118251943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566346866	chr5:118251983-118251984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118227400-118270600	Weak transcription	Ovary	ovary
3	chr5:118233400-118259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
5	chr5:118239400-118257000	Weak transcription	Fetal Lung	lung
6	chr5:118241800-118254400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:118243600-118265000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:118244000-118279600	Weak transcription	Liver	Liver
9	chr5:118244000-118287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:118245000-118260400	Weak transcription	Brain Anterior Caudate	brain
11	chr5:118245000-118272200	Weak transcription	Aorta	Aorta
12	chr5:118245200-118254200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:118245600-118262200	Weak transcription	Primary T cells from cord blood	blood
14	chr5:118246600-118266800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:118247600-118251400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:118248800-118251400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:118249000-118251400	Weak transcription	Left Ventricle	heart
18	chr5:118250000-118261600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:118250200-118250800	Weak transcription	Fetal Heart	heart
20	chr5:118250400-118250800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:118250400-118257600	Weak transcription	Fetal Kidney	kidney
22	chr5:118250400-118289400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:118250600-118254800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:118250800-118251000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:118251000-118253600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:118251200-118254800	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:118251400-118251800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:118251400-118252000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:118251400-118252000	Strong transcription	Left Ventricle	heart
30	chr5:118251800-118254400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:118252000-118254200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:118252000-118279000	Weak transcription	Left Ventricle	heart
33	chr5:118253200-118280200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:118253400-118253800	Enhancers	K562	blood
35	chr5:118253400-118279200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:118253600-118255200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:118253800-118258400	Weak transcription	K562	blood
38	chr5:118254000-118255000	Enhancers	Fetal Thymus	thymus
39	chr5:118254000-118279800	Weak transcription	Pancreas	Pancrea
40	chr5:118254200-118254400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr5:118254200-118254600	Enhancers	GM12878-XiMat	blood
42	chr5:118254200-118255400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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