Variant report

Variant	esv3392548
Chromosome Location	chr5:128139102-128159002
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	chr3:40498394..40499011-chr5:128149135..128149636,3	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000188846	chromatin interactions

Extended variants
information (count: 617 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566610559	chr5:128139177-128139178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538965060	chr5:128139179-128139180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184453565	chr5:128139205-128139206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568899828	chr5:128139236-128139237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537926974	chr5:128139256-128139257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374508363	chr5:128139281-128139282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574499642	chr5:128139337-128139338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75940216	chr5:128139372-128139373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147752926	chr5:128139498-128139499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577455226	chr5:128139587-128139588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546131933	chr5:128139599-128139600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73784474	chr5:128139620-128139621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576061237	chr5:128139638-128139639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527871374	chr5:128139694-128139695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541836548	chr5:128139739-128139740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562011964	chr5:128139745-128139746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189471936	chr5:128139764-128139765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530676884	chr5:128139810-128139811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35015774	chr5:128139814-128139815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150301406	chr5:128139851-128139852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370497515	chr5:128139867-128139868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181823399	chr5:128139901-128139902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532426202	chr5:128139928-128139929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552542657	chr5:128140001-128140002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77186704	chr5:128140036-128140037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537815622	chr5:128140071-128140072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111875864	chr5:128140088-128140089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373791020	chr5:128140170-128140171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548213417	chr5:128140180-128140181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137968009	chr5:128140246-128140247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533925678	chr5:128140364-128140365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554067000	chr5:128140470-128140471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78417045	chr5:128140560-128140561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113789495	chr5:128140635-128140636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184433663	chr5:128140662-128140663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188828904	chr5:128140664-128140665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114631963	chr5:128140669-128140670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556404550	chr5:128140718-128140719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576349627	chr5:128140738-128140739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58338260	chr5:128140756-128140757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536512679	chr5:128140781-128140782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562155450	chr5:128140790-128140791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572446551	chr5:128140816-128140817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541543384	chr5:128140845-128140846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560073579	chr5:128140863-128140864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532315257	chr5:128140870-128140871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552425975	chr5:128140905-128140906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562726598	chr5:128140950-128140951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531645679	chr5:128140988-128140989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547865689	chr5:128141049-128141050	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128138800-128141200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:128143400-128143600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:128143600-128151000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:128148400-128150000	Enhancers	HUVEC	blood vessel
5	chr5:128148600-128148800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:128149000-128150600	Enhancers	Fetal Lung	lung
7	chr5:128150200-128150400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:128150200-128151400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:128150400-128151000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:128150600-128151000	Weak transcription	Fetal Lung	lung
11	chr5:128150600-128151400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:128150600-128151600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:128150600-128151600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:128150600-128151600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:128150800-128151400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:128151000-128151200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:128151000-128151400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:128151000-128151400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:128151000-128151400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:128151000-128151400	Enhancers	Fetal Lung	lung
21	chr5:128151200-128151600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:128151200-128157400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:128157400-128157600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:128157600-128172400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:128158800-128162400	Enhancers	HUVEC	blood vessel
26	chr5:128159000-128159400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:128159000-128159600	Enhancers	Muscle Satellite Cultured Cells	--

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