Variant report

Variant	esv3334488
Chromosome Location	chr5:93478245-93494451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 434 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:434 , 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	rs150504442	chr5:93478808-93478809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs558670409	chr5:93478813-93478814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79376257	chr5:93478825-93478826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190915840	chr5:93478880-93478881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561534262	chr5:93478934-93478935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374338491	chr5:93478977-93478978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575098859	chr5:93478978-93478979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577202808	chr5:93479002-93479003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543614835	chr5:93479082-93479083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568452956	chr5:93479203-93479204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532107282	chr5:93479289-93479290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545826581	chr5:93479348-93479349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181604744	chr5:93479459-93479460	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528399828	chr5:93479468-93479469	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548101488	chr5:93479475-93479476	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567980521	chr5:93479516-93479517	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530735686	chr5:93479623-93479624	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138389034	chr5:93479672-93479673	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553775635	chr5:93479696-93479697	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570170893	chr5:93479719-93479720	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75765926	chr5:93479725-93479726	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374555393	chr5:93479763-93479764	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559018895	chr5:93479788-93479789	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576797957	chr5:93479846-93479847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566099534	chr5:93479903-93479904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28766347	chr5:93479913-93479914	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555308456	chr5:93479959-93479960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574988425	chr5:93479965-93479966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546293733	chr5:93479974-93479975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544043521	chr5:93480082-93480083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557265963	chr5:93480170-93480171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367840521	chr5:93480260-93480261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545559342	chr5:93480420-93480421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558996124	chr5:93480433-93480434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528092051	chr5:93480475-93480476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186796989	chr5:93480528-93480529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7718842	chr5:93480568-93480569	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs369251804	chr5:93480580-93480581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530704587	chr5:93480581-93480582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576188079	chr5:93480582-93480583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550786274	chr5:93480728-93480729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541701139	chr5:93480742-93480743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563323424	chr5:93480750-93480751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs371966116	chr5:93480797-93480798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141819123	chr5:93480842-93480843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146272983	chr5:93480858-93480859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75366820	chr5:93480899-93480900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552719277	chr5:93480959-93480960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139259132	chr5:93481010-93481011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114229836	chr5:93481043-93481044	Weak transcription ZNF genes & repeats	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
Williams Syndrome	20824207	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93478800-93479000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:93478800-93479400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr5:93478800-93479600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr5:93478800-93481400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr5:93479000-93480400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr5:93479400-93479800	Enhancers	HMEC	breast
7	chr5:93479600-93487800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:93480200-93481400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:93480400-93481200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr5:93480400-93481800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr5:93481200-93487200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:93481400-93493600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:93481800-93482000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:93482000-93494800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:93482800-93483000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr5:93482800-93486200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:93483000-93493800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:93483200-93493400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:93485000-93495400	Weak transcription	Pancreas	Pancrea
20	chr5:93485800-93486400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:93486200-93489800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:93486400-93487200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:93486600-93489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:93486800-93496800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:93487000-93488600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:93487200-93488200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:93487200-93488400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:93488000-93493800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:93488200-93489200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:93488400-93494600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:93488600-93489200	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:93489000-93490400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:93489200-93494600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:93489200-93499200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:93489600-93490000	Enhancers	GM12878-XiMat	blood
36	chr5:93489600-93490400	Enhancers	NHLF	lung
37	chr5:93489600-93490400	Enhancers	Osteobl	bone
38	chr5:93489800-93494000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:93490200-93490600	Enhancers	A549	lung
40	chr5:93490400-93493200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:93490400-93493600	Weak transcription	NHLF	lung
42	chr5:93491400-93491600	Enhancers	Fetal Lung	lung
43	chr5:93492000-93493600	Weak transcription	Fetal Lung	lung
44	chr5:93493000-93494000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:93493200-93493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:93493200-93495400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:93493400-93493800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:93493400-93494400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:93493600-93494600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:93493600-93494800	Enhancers	NHLF	lung

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