Variant report

Variant	esv274908
Chromosome Location	chr4:10724057-10731064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 392 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369579030	chr4:10724063-10724064	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs535019563	chr4:10724091-10724092	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540337956	chr4:10724097-10724098	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141168141	chr4:10724128-10724129	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559641692	chr4:10724129-10724130	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150724856	chr4:10724170-10724171	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs139075342	chr4:10724206-10724207	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4295251	chr4:10724220-10724221	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376625938	chr4:10724265-10724266	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575692799	chr4:10724268-10724269	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369129279	chr4:10724278-10724279	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370252722	chr4:10724309-10724310	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181077311	chr4:10724336-10724337	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186165954	chr4:10724337-10724338	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4348087	chr4:10724395-10724396	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572945347	chr4:10724400-10724401	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540554150	chr4:10724407-10724408	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377466951	chr4:10724411-10724412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113095049	chr4:10724422-10724423	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544254225	chr4:10724439-10724440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562465743	chr4:10724444-10724445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376192711	chr4:10724446-10724447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189028639	chr4:10724461-10724462	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182505541	chr4:10724481-10724482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs187181880	chr4:10724499-10724500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190669483	chr4:10724530-10724531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7687355	chr4:10724531-10724532	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140136700	chr4:10724596-10724597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570603209	chr4:10724609-10724610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs556974553	chr4:10724639-10724640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200492214	chr4:10724646-10724647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs569191884	chr4:10724669-10724670	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs80114751	chr4:10724709-10724710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12650713	chr4:10724736-10724737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116658916	chr4:10724796-10724797	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs6448200	chr4:10724809-10724810	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555579556	chr4:10724843-10724844	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs6852722	chr4:10724893-10724894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544509775	chr4:10724910-10724911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373762900	chr4:10724919-10724920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532894940	chr4:10724953-10724954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544801347	chr4:10724983-10724984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560224787	chr4:10725003-10725004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6829409	chr4:10725053-10725054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552441962	chr4:10725054-10725055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75485778	chr4:10725058-10725059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116351265	chr4:10725114-10725115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545541975	chr4:10725129-10725130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185681910	chr4:10725135-10725136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76867666	chr4:10725211-10725212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10719000-10726200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:10722000-10725800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:10723400-10724200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr4:10723600-10724200	Enhancers	Stomach Mucosa	stomach
5	chr4:10723600-10725200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:10723600-10725800	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:10724000-10724200	Enhancers	Primary T cells from cord blood	blood
8	chr4:10724000-10724400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr4:10724200-10725000	Flanking Active TSS	GM12878-XiMat	blood
10	chr4:10724200-10725400	Enhancers	Primary B cells from cord blood	blood
11	chr4:10724200-10725800	Enhancers	Fetal Thymus	thymus
12	chr4:10724200-10728400	Weak transcription	Primary T cells from cord blood	blood
13	chr4:10724400-10724600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:10724600-10725200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr4:10724600-10725200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr4:10724600-10725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:10724800-10725000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:10725000-10725400	Enhancers	GM12878-XiMat	blood
19	chr4:10725200-10726000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:10725200-10733000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:10725400-10726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:10725400-10728200	Weak transcription	GM12878-XiMat	blood
23	chr4:10725400-10729000	Weak transcription	Primary B cells from cord blood	blood
24	chr4:10725600-10726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:10725800-10726000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:10725800-10726200	Weak transcription	Fetal Thymus	thymus
27	chr4:10725800-10728400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:10726000-10747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:10726200-10726800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:10726200-10726800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:10726200-10726800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:10726200-10728800	Enhancers	Fetal Thymus	thymus
33	chr4:10726400-10728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:10726600-10726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:10726600-10727000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:10726800-10728400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:10726800-10733200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:10726800-10734800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:10728200-10728400	Enhancers	GM12878-XiMat	blood
40	chr4:10728400-10728800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:10728400-10728800	Enhancers	Primary T cells from cord blood	blood
42	chr4:10728400-10729400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:10728400-10729400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:10728400-10729800	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:10728400-10730000	Flanking Active TSS	GM12878-XiMat	blood
46	chr4:10728800-10733800	Weak transcription	Fetal Thymus	thymus
47	chr4:10728800-10734000	Weak transcription	Primary T cells from cord blood	blood
48	chr4:10729000-10730000	Enhancers	Primary B cells from cord blood	blood
49	chr4:10729800-10732200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:10730000-10730800	Enhancers	GM12878-XiMat	blood

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