Variant report

Variant	esv3450425
Chromosome Location	chr5:27134073-27323407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:78)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:27208558..27210472-chr5:27217728..27219339,2	K562	blood:
2	chr5:27219501..27221049-chr5:27242814..27244640,2	K562	blood:
3	chr5:27178494..27180623-chr5:27183563..27186958,3	MCF-7	breast:
4	chr5:27236697..27239558-chr5:27243004..27246316,3	K562	blood:
5	chr5:27167532..27169092-chr5:27170978..27173279,2	K562	blood:
6	chr5:27219696..27221313-chr5:27313999..27316596,2	K562	blood:
7	chr5:27168464..27170970-chr5:27219066..27221695,2	K562	blood:
8	chr5:27170828..27173220-chr5:27216405..27218004,2	K562	blood:
9	chr5:27261008..27263784-chr5:27271504..27273523,2	K562	blood:
10	chr5:27191511..27196755-chr5:27216408..27219751,5	K562	blood:
11	chr5:27261008..27263784-chr5:27271504..27273523,2	K562	blood:
12	chr5:27141256..27144041-chr5:27219480..27222049,2	K562	blood:
13	chr5:27212676..27215964-chr5:27216414..27219367,5	K562	blood:
14	chr5:27278603..27280851-chr5:27284025..27286164,2	K562	blood:
15	chr5:27297322..27299274-chr5:27300451..27302741,2	K562	blood:
16	chr5:27208558..27210472-chr5:27217728..27219339,2	K562	blood:
17	chr5:27278603..27280851-chr5:27284025..27286164,2	K562	blood:
18	chr5:27226976..27228846-chr5:27344849..27346481,2	K562	blood:
19	chr5:27217761..27220206-chr5:27285474..27288180,2	K562	blood:
20	chr5:27216775..27219556-chr5:27474982..27476487,2	K562	blood:
21	chr5:27177888..27180469-chr5:27180601..27183505,3	MCF-7	breast:
22	chr5:27188701..27190583-chr5:27195878..27197425,2	K562	blood:
23	chr5:27191511..27196755-chr5:27216408..27219751,5	K562	blood:
24	chr5:27188701..27190583-chr5:27195878..27197425,2	K562	blood:
25	chr5:27242737..27244704-chr5:27247749..27250273,2	K562	blood:
26	chr5:27148199..27150659-chr5:27216557..27219438,3	K562	blood:
27	chr5:27219501..27221049-chr5:27242814..27244640,2	K562	blood:
28	chr5:27177888..27180469-chr5:27180601..27183505,3	MCF-7	breast:
29	chr5:27142169..27144167-chr5:27216401..27218776,2	K562	blood:
30	chr5:27219696..27221313-chr5:27313999..27316596,2	K562	blood:
31	chr5:27217761..27220206-chr5:27285474..27288180,2	K562	blood:
32	chr5:27314869..27317667-chr5:27318478..27321360,2	K562	blood:
33	chr5:27240396..27242299-chr5:27243332..27245051,2	K562	blood:
34	chr5:27273803..27275976-chr5:27278009..27280020,2	K562	blood:
35	chr5:27167532..27169092-chr5:27170978..27173279,2	K562	blood:
36	chr5:27277652..27280851-chr5:27283046..27286164,3	K562	blood:
37	chr5:27192628..27195085-chr5:27218251..27219842,2	K562	blood:
38	chr5:27297322..27300266-chr5:27300451..27303567,3	K562	blood:
39	chr5:27178494..27180623-chr5:27183563..27186958,3	MCF-7	breast:
40	chr5:27148199..27150659-chr5:27216557..27219438,3	K562	blood:
41	chr5:27227292..27233296-chr5:27233311..27237362,8	K562	blood:
42	chr5:27307208..27308729-chr5:27311551..27314257,2	K562	blood:
43	chr5:27139047..27140972-chr5:28754402..28756411,2	MCF-7	breast:
44	chr5:27187232..27190139-chr5:27197303..27199539,2	MCF-7	breast:
45	chr5:27297322..27300266-chr5:27300451..27303567,3	K562	blood:
46	chr5:27307208..27308729-chr5:27311551..27314257,2	K562	blood:
47	chr5:27187232..27190139-chr5:27197303..27199539,2	MCF-7	breast:
48	chr5:27230159..27233092-chr5:27234206..27238108,4	K562	blood:
49	chr5:27142169..27144167-chr5:27216401..27218776,2	K562	blood:
50	chr5:27307590..27311526-chr5:27313597..27315707,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250337	chromatin interactions

Extended variants
information (count: 3426 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3426 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376322625	chr5:27149603-27149604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544187065	chr5:27149613-27149614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545012945	chr5:27149629-27149630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564170122	chr5:27149656-27149657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73078194	chr5:27149690-27149691	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186969316	chr5:27149701-27149702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548814546	chr5:27149718-27149719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144758999	chr5:27149731-27149732	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs531430232	chr5:27149736-27149737	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549595716	chr5:27149757-27149758	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571196441	chr5:27149806-27149807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538593362	chr5:27149824-27149825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545821099	chr5:27149854-27149855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs13160327	chr5:27149879-27149880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558436335	chr5:27149896-27149897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551311935	chr5:27149897-27149898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs201459870	chr5:27149918-27149919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112255353	chr5:27149937-27149938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111865668	chr5:27149944-27149945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569910425	chr5:27149954-27149955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191820531	chr5:27149982-27149983	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530328867	chr5:27157222-27157223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547740537	chr5:27157227-27157228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192395838	chr5:27157233-27157234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs372573552	chr5:27157247-27157248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144344479	chr5:27157252-27157253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558594245	chr5:27157294-27157295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7706400	chr5:27157304-27157305	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147769774	chr5:27157330-27157331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs80109709	chr5:27157337-27157338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370534836	chr5:27157341-27157342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs374285427	chr5:27157351-27157352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376834321	chr5:27157354-27157355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562697414	chr5:27157357-27157358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574672095	chr5:27157367-27157368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs140143935	chr5:27157370-27157371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554985349	chr5:27157383-27157384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs531810079	chr5:27157439-27157440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs576530785	chr5:27157447-27157448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79423136	chr5:27157462-27157463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73080103	chr5:27157465-27157466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532505484	chr5:27157469-27157470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541613286	chr5:27157509-27157510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs559739147	chr5:27157533-27157534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374431288	chr5:27157543-27157544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542582932	chr5:27157565-27157566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149879816	chr5:27157610-27157611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570036785	chr5:27157613-27157614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530391362	chr5:27157619-27157620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551895309	chr5:27157623-27157624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27149600-27150000	Active TSS	K562	blood
2	chr5:27157200-27158400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr5:27158000-27158200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:27158000-27158600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:27158200-27158800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:27158400-27158800	Enhancers	NHEK	skin
7	chr5:27158400-27159000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:27158600-27159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:27158800-27160000	Enhancers	HMEC	breast
10	chr5:27159400-27159600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:27159800-27160000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:27163200-27163800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:27163200-27163800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:27163200-27164000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:27163400-27163800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:27170800-27173200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:27171000-27173200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:27171000-27173800	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:27171800-27172200	Enhancers	Fetal Heart	heart
20	chr5:27180200-27181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:27180400-27181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:27181400-27186800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:27185000-27185400	Enhancers	Fetal Brain Male	brain
24	chr5:27185400-27186600	Weak transcription	Fetal Brain Male	brain
25	chr5:27186600-27187000	Enhancers	Fetal Brain Male	brain
26	chr5:27186800-27187200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:27192000-27192400	Enhancers	Hela-S3	cervix
28	chr5:27192000-27192400	Enhancers	NH-A	brain
29	chr5:27198600-27199400	Active TSS	Fetal Heart	heart
30	chr5:27201800-27205200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:27205200-27205400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:27217400-27218200	Active TSS	A549	lung
33	chr5:27217400-27223800	Active TSS	K562	blood
34	chr5:27217600-27218000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:27217600-27218000	Active TSS	Hela-S3	cervix
36	chr5:27217600-27218000	Active TSS	HepG2	liver
37	chr5:27222400-27224800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:27232200-27241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:27240800-27243200	Enhancers	NH-A	brain
40	chr5:27240800-27243800	Enhancers	HMEC	breast
41	chr5:27241000-27242800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:27241000-27243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:27241000-27243200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:27241000-27243400	Enhancers	Hela-S3	cervix
45	chr5:27241000-27243600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:27241200-27241400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:27241200-27242000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:27241200-27242000	Enhancers	Primary hematopoietic stem cells	blood
49	chr5:27241200-27242200	Enhancers	Fetal Kidney	kidney
50	chr5:27241200-27242800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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