Variant report

Variant	esv274937
Chromosome Location	chr5:111688750-111691016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111685601..111687919-chr5:111689516..111692384,2	K562	blood:
2	chr5:111683856..111685558-chr5:111688927..111690455,2	MCF-7	breast:
3	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556163546	chr5:111688769-111688770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571239655	chr5:111688793-111688794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578133632	chr5:111688809-111688810	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75368108	chr5:111688838-111688839	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190598065	chr5:111688914-111688915	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559881599	chr5:111688925-111688926	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116873032	chr5:111688926-111688927	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542760659	chr5:111688928-111688929	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554351838	chr5:111688935-111688936	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549237212	chr5:111688941-111688942	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60193147	chr5:111688948-111688949	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4958042	chr5:111688951-111688952	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148432813	chr5:111688952-111688953	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376672776	chr5:111689053-111689054	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183748322	chr5:111689054-111689055	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146253150	chr5:111689064-111689065	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545114594	chr5:111689065-111689066	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560632821	chr5:111689068-111689069	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370517423	chr5:111689094-111689095	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549099832	chr5:111689095-111689096	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561483917	chr5:111689153-111689154	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567499956	chr5:111689164-111689165	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538299648	chr5:111689183-111689184	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532017283	chr5:111689198-111689199	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186586891	chr5:111689263-111689264	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571885176	chr5:111689271-111689272	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138903337	chr5:111689324-111689325	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112202630	chr5:111689328-111689329	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115901017	chr5:111689337-111689338	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140463642	chr5:111689425-111689426	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs61471554	chr5:111689433-111689434	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191444690	chr5:111689450-111689451	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs60836718	chr5:111689474-111689475	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536881077	chr5:111689475-111689476	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs57211830	chr5:111689508-111689509	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs60806157	chr5:111689523-111689524	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556572202	chr5:111689527-111689528	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182993008	chr5:111689546-111689547	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369809921	chr5:111689566-111689567	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560297290	chr5:111689575-111689576	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1474360	chr5:111689588-111689589	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34246079	chr5:111689633-111689634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1474361	chr5:111689637-111689638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112836382	chr5:111689642-111689643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60021992	chr5:111689645-111689646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561401188	chr5:111689646-111689647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531929585	chr5:111689664-111689665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34634501	chr5:111689675-111689676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550442288	chr5:111689711-111689712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565524429	chr5:111689722-111689723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111676200-111689000	Weak transcription	Lung	lung
2	chr5:111678400-111689000	Weak transcription	Gastric	stomach
3	chr5:111678600-111695600	Weak transcription	Pancreas	Pancrea
4	chr5:111683800-111689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:111683800-111689400	Weak transcription	Spleen	Spleen
6	chr5:111684000-111702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:111684800-111688800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:111684800-111689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:111684800-111689600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:111684800-111689600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:111685000-111689000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:111685000-111689400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:111685000-111689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:111685000-111689800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:111685200-111688800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:111685200-111689800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:111685200-111689800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:111685200-111689800	Weak transcription	Brain Anterior Caudate	brain
19	chr5:111685200-111690600	Weak transcription	GM12878-XiMat	blood
20	chr5:111685200-111707000	Weak transcription	Ovary	ovary
21	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
22	chr5:111685600-111689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:111685800-111688800	Weak transcription	Left Ventricle	heart
24	chr5:111685800-111693600	Weak transcription	Right Atrium	heart
25	chr5:111686400-111692000	Weak transcription	Right Ventricle	heart
26	chr5:111687200-111693600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:111687600-111690400	Weak transcription	HUVEC	blood vessel
28	chr5:111688200-111689200	Enhancers	Fetal Heart	heart
29	chr5:111688800-111689400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:111688800-111689600	Enhancers	Left Ventricle	heart
31	chr5:111688800-111690400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:111689000-111689200	Genic enhancers	Gastric	stomach
33	chr5:111689000-111689600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:111689000-111689600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:111689000-111689600	Enhancers	Esophagus	oesophagus
36	chr5:111689000-111689600	ZNF genes & repeats	Lung	lung
37	chr5:111689000-111689800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:111689000-111690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:111689200-111691800	Weak transcription	Fetal Heart	heart
40	chr5:111689200-111702200	Weak transcription	Gastric	stomach
41	chr5:111689400-111689600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:111689400-111689600	Enhancers	Spleen	Spleen
43	chr5:111689400-111690400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:111689400-111690600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:111689600-111690000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:111689600-111690200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:111689600-111690200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:111689600-111690400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:111689600-111690400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:111689600-111690600	Enhancers	HUES48 Cell Line	embryonic stem cell

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