Variant report

Variant	esv3466995
Chromosome Location	chr4:9863556-9866072
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	chr4:9865151..9867306-chr4:9868074..9870913,3	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527309364	chr4:9863611-9863612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183453624	chr4:9863612-9863613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574728134	chr4:9863670-9863671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567589174	chr4:9863673-9863674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28591077	chr4:9863678-9863679	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549571345	chr4:9863682-9863683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77907734	chr4:9863692-9863693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4697901	chr4:9863698-9863699	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539563268	chr4:9863760-9863761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372154332	chr4:9863761-9863762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558106302	chr4:9863769-9863770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566732631	chr4:9863794-9863795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534233879	chr4:9863882-9863883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4697902	chr4:9863936-9863937	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs369756496	chr4:9863938-9863939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544776401	chr4:9863945-9863946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187736581	chr4:9863971-9863972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147563048	chr4:9863976-9863977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376405315	chr4:9863997-9863998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557938878	chr4:9864045-9864046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193166197	chr4:9864058-9864059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7680896	chr4:9864065-9864066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571934281	chr4:9864071-9864072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566783059	chr4:9864154-9864155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184991428	chr4:9864185-9864186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6823036	chr4:9864190-9864191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35629527	chr4:9864232-9864233	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369008211	chr4:9864254-9864255	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188355548	chr4:9864314-9864315	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528318512	chr4:9864318-9864319	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564761513	chr4:9864319-9864320	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532205212	chr4:9864351-9864352	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532788383	chr4:9864363-9864364	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76945356	chr4:9864384-9864385	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551569160	chr4:9864397-9864398	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192585541	chr4:9864454-9864455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140342693	chr4:9864480-9864481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551157274	chr4:9864493-9864494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549368224	chr4:9864516-9864517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184107435	chr4:9864519-9864520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538559296	chr4:9864537-9864538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556922462	chr4:9864540-9864541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144293768	chr4:9864621-9864622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539258371	chr4:9864626-9864627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568376102	chr4:9864633-9864634	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114750793	chr4:9864645-9864646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572113271	chr4:9864668-9864669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550568934	chr4:9864673-9864674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568938235	chr4:9864694-9864695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539548305	chr4:9864701-9864702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9845000-9874800	Weak transcription	NHEK	skin
2	chr4:9851200-9869800	Weak transcription	Gastric	stomach
3	chr4:9857200-9864800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:9858400-9867000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:9861000-9864800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:9861200-9863600	Strong transcription	Liver	Liver
7	chr4:9861400-9864400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:9861600-9863800	Weak transcription	Right Ventricle	heart
9	chr4:9861600-9864400	Strong transcription	HepG2	liver
10	chr4:9861600-9874400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:9861800-9864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:9862600-9863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:9862600-9868200	Weak transcription	Lung	lung
14	chr4:9862600-9871600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:9862600-9880400	Weak transcription	HMEC	breast
16	chr4:9862600-9883000	Weak transcription	Esophagus	oesophagus
17	chr4:9862800-9871800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:9862800-9880000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:9862800-9887400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:9863200-9868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:9863400-9868200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:9863600-9887600	Weak transcription	Liver	Liver
23	chr4:9864200-9864400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:9864400-9864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:9864400-9865800	Weak transcription	HepG2	liver
26	chr4:9864400-9867000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:9864800-9877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:9865800-9876200	Strong transcription	HepG2	liver

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