Variant report

Variant	esv3384356
Chromosome Location	chr5:100591602-100614324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 536 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:536 , 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	rs547602783	chr5:100591800-100591801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1459573	chr5:100591845-100591846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189136706	chr5:100591977-100591978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6862162	chr5:100592006-100592007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs548621964	chr5:100592019-100592020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559414916	chr5:100592090-100592091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73780158	chr5:100592094-100592095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73163029	chr5:100592103-100592104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569369892	chr5:100592122-100592123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530918351	chr5:100592128-100592129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536752624	chr5:100592137-100592138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552416741	chr5:100592180-100592181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548851216	chr5:100592224-100592225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570919973	chr5:100592225-100592226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568630886	chr5:100592234-100592235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535704722	chr5:100592237-100592238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111894787	chr5:100592273-100592274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192831091	chr5:100592274-100592275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539810208	chr5:100592309-100592310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558194898	chr5:100592317-100592318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576561668	chr5:100592359-100592360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148651835	chr5:100592378-100592379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4509001	chr5:100592381-100592382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573755801	chr5:100592425-100592426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4467676	chr5:100592459-100592460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79175070	chr5:100592479-100592480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185312670	chr5:100592502-100592503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554161592	chr5:100592504-100592505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115447620	chr5:100592540-100592541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562941447	chr5:100592558-100592559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189373672	chr5:100592559-100592560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575991141	chr5:100592594-100592595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567278782	chr5:100592595-100592596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181427032	chr5:100592596-100592597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570186836	chr5:100592614-100592615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142170661	chr5:100592627-100592628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540142320	chr5:100592642-100592643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558537725	chr5:100592645-100592646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543385991	chr5:100592653-100592654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150694484	chr5:100592660-100592661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570059623	chr5:100592668-100592669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151212936	chr5:100592709-100592710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140404540	chr5:100592774-100592775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183747365	chr5:100592781-100592782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541178626	chr5:100592811-100592812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146924681	chr5:100592829-100592830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577461633	chr5:100592841-100592842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544893873	chr5:100592864-100592865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563277935	chr5:100592910-100592911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116116893	chr5:100592945-100592946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100591800-100594200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100594200-100594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:100594600-100594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100596000-100596400	Enhancers	A549	lung
5	chr5:100596400-100596800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:100596400-100596800	Flanking Active TSS	A549	lung
7	chr5:100596400-100597000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:100596400-100598000	Enhancers	Fetal Intestine Large	intestine
9	chr5:100596800-100597200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr5:100596800-100597200	Enhancers	A549	lung
11	chr5:100597200-100598000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:100597600-100600200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:100597800-100598000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr5:100598000-100598800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:100599200-100600000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:100600000-100600200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:100600200-100600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:100600200-100601200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:100600600-100601600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:100601200-100601800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:100601600-100605400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:100607200-100607600	Enhancers	Dnd41	blood
23	chr5:100613400-100615000	Enhancers	HMEC	breast
24	chr5:100613800-100614000	Active TSS	A549	lung
25	chr5:100613800-100614200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:100613800-100614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:100613800-100614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:100614000-100614400	Flanking Active TSS	A549	lung

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