Variant report

Variant	esv1816089
Chromosome Location	chr4:9952266-9953297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4697914	chr4:9952266-9952267	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546690512	chr4:9952283-9952284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568069619	chr4:9952304-9952305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7666787	chr4:9952333-9952334	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550857422	chr4:9952346-9952347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369566814	chr4:9952389-9952390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191894083	chr4:9952400-9952401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540009497	chr4:9952410-9952411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558036735	chr4:9952443-9952444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76260533	chr4:9952544-9952545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35643046	chr4:9952587-9952588	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7376155	chr4:9952588-9952589	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555510777	chr4:9952631-9952632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115197687	chr4:9952633-9952634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544272280	chr4:9952656-9952657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149303415	chr4:9952683-9952684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556406797	chr4:9952737-9952738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7376505	chr4:9952744-9952745	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144582764	chr4:9952756-9952757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183326701	chr4:9952773-9952774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7377578	chr4:9952775-9952776	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555870774	chr4:9952814-9952815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188330798	chr4:9952818-9952819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191329737	chr4:9952857-9952858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575396797	chr4:9952897-9952898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540318607	chr4:9952913-9952914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139144507	chr4:9952938-9952939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369892403	chr4:9952939-9952940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375634487	chr4:9952941-9952942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148063013	chr4:9952965-9952966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570664092	chr4:9952972-9952973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529230061	chr4:9952994-9952995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550734419	chr4:9953000-9953001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13101688	chr4:9953011-9953012	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35371429	chr4:9953031-9953032	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552055227	chr4:9953059-9953060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62294293	chr4:9953086-9953087	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs28755795	chr4:9953089-9953090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386671567	chr4:9953097-9953098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7377625	chr4:9953099-9953100	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143370649	chr4:9953148-9953149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537953731	chr4:9953195-9953196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555857715	chr4:9953206-9953207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577569740	chr4:9953210-9953211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372171372	chr4:9953211-9953212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544931832	chr4:9953246-9953247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145110657	chr4:9953251-9953252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76574510	chr4:9953252-9953253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143487517	chr4:9953253-9953254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368289055	chr4:9953293-9953294	Weak transcription Strong 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
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9911400-9979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:9928000-9960000	Weak transcription	Esophagus	oesophagus
3	chr4:9930800-9953800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:9938200-9957600	Weak transcription	Fetal Stomach	stomach
5	chr4:9939600-9956600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:9941400-9953200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:9944000-9979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:9944600-9964400	Weak transcription	HMEC	breast
9	chr4:9947600-9955800	Weak transcription	Fetal Intestine Large	intestine
10	chr4:9949000-9958400	Weak transcription	NHEK	skin
11	chr4:9949800-9979400	Weak transcription	Liver	Liver
12	chr4:9950000-9955000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:9950000-9966600	Weak transcription	Psoas Muscle	Psoas
14	chr4:9950400-9954800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:9950400-9955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:9950400-9959000	Weak transcription	Right Atrium	heart
17	chr4:9951200-9953800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:9951800-9953000	Weak transcription	HepG2	liver
19	chr4:9951800-9954800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:9951800-9955600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:9952200-9956000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:9953000-9953800	Strong transcription	HepG2	liver

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