Variant report

Variant	esv1001926
Chromosome Location	chr5:68281457-68292160
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	chr5:68285646..68288257-chr5:68336896..68339425,2	K562	blood:

Extended variants
information (count: 165 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571610951	chr5:68281542-68281543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181844535	chr5:68281543-68281544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556933886	chr5:68281556-68281557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567255384	chr5:68281579-68281580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536934553	chr5:68281583-68281584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376518700	chr5:68281587-68281588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555272086	chr5:68281589-68281590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573903611	chr5:68281600-68281601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186442460	chr5:68281629-68281630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536193369	chr5:68281669-68281670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563771817	chr5:68281673-68281674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11463055	chr5:68281684-68281685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563058488	chr5:68281685-68281686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397823780	chr5:68281693-68281694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545163232	chr5:68281704-68281705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563256775	chr5:68281760-68281761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144394320	chr5:68281796-68281797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139308328	chr5:68281840-68281841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142707673	chr5:68281957-68281958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191631627	chr5:68282005-68282006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528791380	chr5:68282082-68282083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147345333	chr5:68282107-68282108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571858053	chr5:68282151-68282152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4976007	chr5:68282152-68282153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550697066	chr5:68282181-68282182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568892445	chr5:68282215-68282216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536220799	chr5:68282250-68282251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374561960	chr5:68282252-68282253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567399055	chr5:68282271-68282272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111826011	chr5:68282273-68282274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552880522	chr5:68282276-68282277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577801741	chr5:68282285-68282286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34515249	chr5:68282322-68282323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545101996	chr5:68282328-68282329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397762406	chr5:68282333-68282334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557064924	chr5:68282341-68282342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4385164	chr5:68282363-68282364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115078778	chr5:68282385-68282386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528492032	chr5:68282440-68282441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560942912	chr5:68282489-68282490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528778242	chr5:68282520-68282521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12657477	chr5:68282541-68282542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565322918	chr5:68282651-68282652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6874774	chr5:68282671-68282672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183462905	chr5:68282730-68282731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61600663	chr5:68282767-68282768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs56275714	chr5:68282846-68282847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566896620	chr5:68282862-68282863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534596360	chr5:68282886-68282887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546899735	chr5:68282913-68282914	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68281000-68281600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:68281000-68281600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:68281200-68281600	Enhancers	Right Atrium	heart
4	chr5:68281400-68282800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:68282800-68283200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:68286800-68287200	Enhancers	HSMMtube	muscle
7	chr5:68289000-68289200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:68289800-68290000	Enhancers	GM12878-XiMat	blood
9	chr5:68290000-68291000	Flanking Active TSS	GM12878-XiMat	blood
10	chr5:68290200-68290400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr5:68290200-68290400	Enhancers	NHEK	skin
12	chr5:68290200-68291000	Enhancers	Fetal Lung	lung
13	chr5:68290200-68292000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:68290400-68290800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:68290400-68290800	Flanking Active TSS	NHEK	skin
16	chr5:68290400-68292000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:68290400-68292000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:68290400-68292200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:68290600-68292200	Enhancers	HMEC	breast
20	chr5:68290800-68291800	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:68290800-68292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:68290800-68292200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:68290800-68292200	Enhancers	NHEK	skin
24	chr5:68291000-68291800	Enhancers	GM12878-XiMat	blood
25	chr5:68291600-68292200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:68292000-68296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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