Variant report

Variant	esv1797162
Chromosome Location	chr5:92972389-92989773
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	chr5:92987752..92989863-chr5:92996146..92998098,2	K562	blood:

Extended variants
information (count: 550 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6556828	chr5:92972389-92972390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540163493	chr5:92972395-92972396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527868274	chr5:92972446-92972447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7733506	chr5:92972504-92972505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7714009	chr5:92972522-92972523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533249441	chr5:92972534-92972535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7737673	chr5:92972623-92972624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546944431	chr5:92972646-92972647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566795670	chr5:92972649-92972650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7714282	chr5:92972667-92972668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191571908	chr5:92972689-92972690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139191772	chr5:92972739-92972740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568459103	chr5:92972745-92972746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141410368	chr5:92972746-92972747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556919207	chr5:92972778-92972779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184447398	chr5:92972791-92972792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539468550	chr5:92972816-92972817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553215204	chr5:92972884-92972885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573493059	chr5:92972934-92972935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190560342	chr5:92973022-92973023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76693385	chr5:92973059-92973060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570664683	chr5:92973061-92973062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61134110	chr5:92973078-92973079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386404460	chr5:92973080-92973081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57017125	chr5:92973081-92973082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75584022	chr5:92973082-92973083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78797548	chr5:92973091-92973092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77681502	chr5:92973092-92973093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562356479	chr5:92973172-92973173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561981207	chr5:92973209-92973210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182215845	chr5:92973226-92973227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544328565	chr5:92973287-92973288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564049942	chr5:92973362-92973363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75007012	chr5:92973436-92973437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185217740	chr5:92973473-92973474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560439910	chr5:92973601-92973602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs316927	chr5:92973637-92973638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs79981550	chr5:92973651-92973652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150831767	chr5:92973663-92973664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569068347	chr5:92973682-92973683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537125201	chr5:92973709-92973710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7442789	chr5:92973726-92973727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375328562	chr5:92973845-92973846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138312285	chr5:92973868-92973869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114212133	chr5:92973984-92973985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539406027	chr5:92974006-92974007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188811923	chr5:92974097-92974098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181270999	chr5:92974101-92974102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536188138	chr5:92974125-92974126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555666408	chr5:92974149-92974150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92961400-93007000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:92965200-92985400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:92971400-92973600	Weak transcription	HepG2	liver
4	chr5:92971600-92972600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:92971600-92973000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:92972000-92973000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:92972600-92972800	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:92972600-92973000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:92973000-92973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:92973200-92974400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:92973400-92974400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:92973600-92974000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:92973600-92974000	Enhancers	HepG2	liver
14	chr5:92977800-92979200	Enhancers	Placenta	Placenta
15	chr5:92980200-92981000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:92981000-92981200	Enhancers	Placenta	Placenta
17	chr5:92982600-92983200	Enhancers	Adipose Nuclei	Adipose
18	chr5:92987000-93015400	Weak transcription	Primary hematopoietic stem cells	blood

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