Variant report

Variant	esv992285
Chromosome Location	chr5:146843809-146854803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:146852615..146855525-chr5:146856529..146860037,3	K562	blood:
2	chr5:146843342..146844495-chr5:146957725..146958288,5	MCF-7	breast:
3	chr5:146843544..146844324-chr5:146956668..146957286,3	MCF-7	breast:
4	chr5:146843864..146844427-chr5:146939683..146940421,2	MCF-7	breast:
5	chr5:146843533..146844497-chr5:146938186..146939120,6	MCF-7	breast:

Extended variants
information (count: 316 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534346879	chr5:146843826-146843827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6870493	chr5:146843844-146843845	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527481915	chr5:146843846-146843847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547146979	chr5:146843919-146843920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114193463	chr5:146844061-146844062	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574009191	chr5:146844085-146844086	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536273893	chr5:146844097-146844098	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187307630	chr5:146844116-146844117	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529712018	chr5:146844117-146844118	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549379289	chr5:146844223-146844224	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569533954	chr5:146844304-146844305	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149736068	chr5:146844333-146844334	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551783470	chr5:146844390-146844391	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190507809	chr5:146844427-146844428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145660027	chr5:146844458-146844459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148449619	chr5:146844466-146844467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554379412	chr5:146844500-146844501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142639357	chr5:146844581-146844582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536730740	chr5:146844607-146844608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200312778	chr5:146844610-146844611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556551890	chr5:146844617-146844618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147585563	chr5:146844618-146844619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74786134	chr5:146844647-146844648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545324296	chr5:146844654-146844655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576413789	chr5:146844677-146844678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565039935	chr5:146844714-146844715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112448117	chr5:146844720-146844721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142017990	chr5:146844741-146844742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182986346	chr5:146844764-146844765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545277624	chr5:146844792-146844793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376804784	chr5:146844804-146844805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145873063	chr5:146844830-146844831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561636549	chr5:146844871-146844872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74398625	chr5:146844883-146844884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147764558	chr5:146844885-146844886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565124327	chr5:146844886-146844887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529771763	chr5:146844915-146844916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140111146	chr5:146845014-146845015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563342994	chr5:146845015-146845016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570037360	chr5:146845019-146845020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572137885	chr5:146845126-146845127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541154049	chr5:146845145-146845146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532020084	chr5:146845162-146845163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552104840	chr5:146845181-146845182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187618226	chr5:146845193-146845194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371740881	chr5:146845197-146845198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376387622	chr5:146845210-146845211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527956911	chr5:146845243-146845244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190243490	chr5:146845246-146845247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548046401	chr5:146845274-146845275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146835800-146858800	Weak transcription	NH-A	brain
2	chr5:146836000-146844000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:146836000-146845400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:146836200-146844000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:146836200-146845200	Weak transcription	Brain Germinal Matrix	brain
6	chr5:146836200-146845200	Weak transcription	Ovary	ovary
7	chr5:146836200-146846200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:146836200-146846200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:146836200-146851600	Weak transcription	Fetal Stomach	stomach
10	chr5:146836400-146845000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:146838400-146844200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:146838400-146846000	Weak transcription	Left Ventricle	heart
13	chr5:146839400-146844000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:146839600-146851600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:146839600-146852200	Weak transcription	Aorta	Aorta
16	chr5:146839800-146846000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:146840000-146859200	Weak transcription	NHLF	lung
18	chr5:146840400-146845800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:146840800-146846000	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:146841000-146844000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:146841200-146847200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:146841600-146845800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:146842600-146844000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:146842600-146857600	Weak transcription	Osteobl	bone
25	chr5:146842800-146851600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:146843400-146844400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:146843600-146844200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:146843600-146844200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:146843600-146844400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:146843600-146844400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:146843600-146844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:146843600-146844400	Enhancers	Right Atrium	heart
33	chr5:146843800-146852000	Weak transcription	Fetal Brain Male	brain
34	chr5:146844000-146844400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:146844000-146844400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:146844000-146844400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:146844000-146844400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:146844000-146844400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:146844000-146844400	Enhancers	Brain Anterior Caudate	brain
40	chr5:146844000-146844600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:146844200-146844400	Enhancers	Stomach Mucosa	stomach
42	chr5:146844200-146844600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:146844200-146845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:146844200-146846000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:146844400-146845200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:146844400-146845600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:146844400-146845800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:146844400-146845800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:146844400-146846000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:146844400-146846000	Weak transcription	Right Atrium	heart

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