Variant report

Variant	esv1820626
Chromosome Location	chr4:9966925-9974186
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	chr4:9959731..9961810-chr4:9971031..9973164,2	K562	blood:

Extended variants
information (count: 290 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78723453	chr4:9966925-9966926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114337273	chr4:9966943-9966944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7676733	chr4:9966956-9966957	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540868176	chr4:9966968-9966969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371111272	chr4:9966972-9966973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143790062	chr4:9967015-9967016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550741747	chr4:9967052-9967053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10017674	chr4:9967053-9967054	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186345821	chr4:9967088-9967089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113995040	chr4:9967255-9967256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566731750	chr4:9967298-9967299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16891489	chr4:9967314-9967315	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs61691299	chr4:9967369-9967370	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78093985	chr4:9967421-9967422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541896227	chr4:9967440-9967441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79384197	chr4:9967504-9967505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575221089	chr4:9967514-9967515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7435196	chr4:9967556-9967557	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190794925	chr4:9967594-9967595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182706570	chr4:9967607-9967608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540606201	chr4:9967671-9967672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373388481	chr4:9967672-9967673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200554232	chr4:9967678-9967679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386671572	chr4:9967682-9967683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7437120	chr4:9967683-9967684	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550687146	chr4:9967695-9967696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74754132	chr4:9967724-9967725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533062899	chr4:9967750-9967751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551327703	chr4:9967793-9967794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191035848	chr4:9967799-9967800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183169552	chr4:9967829-9967830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6449176	chr4:9967843-9967844	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35899770	chr4:9967852-9967853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187536654	chr4:9967946-9967947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532279247	chr4:9968009-9968010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6449177	chr4:9968050-9968051	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555946490	chr4:9968059-9968060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575309691	chr4:9968072-9968073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147245476	chr4:9968078-9968079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558118813	chr4:9968125-9968126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537128945	chr4:9968127-9968128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11726620	chr4:9968134-9968135	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573186510	chr4:9968135-9968136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193026304	chr4:9968146-9968147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562408801	chr4:9968148-9968149	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370772197	chr4:9968150-9968151	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143546488	chr4:9968155-9968156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529622857	chr4:9968164-9968165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183007018	chr4:9968173-9968174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563096859	chr4:9968176-9968177	Strong transcription 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
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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9911400-9979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:9944000-9979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:9949800-9979400	Weak transcription	Liver	Liver
4	chr4:9958600-9984800	Weak transcription	Aorta	Aorta
5	chr4:9963400-9996400	Weak transcription	Adipose Nuclei	Adipose
6	chr4:9964200-9967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:9964200-9967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:9964200-9968600	Strong transcription	Fetal Intestine Large	intestine
9	chr4:9964200-9986600	Weak transcription	Ovary	ovary
10	chr4:9964400-9968800	Strong transcription	HMEC	breast
11	chr4:9964400-9980800	Weak transcription	Esophagus	oesophagus
12	chr4:9964800-9979200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:9965200-9967000	Enhancers	Brain Germinal Matrix	brain
14	chr4:9965400-9971600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:9965800-9969800	Weak transcription	GM12878-XiMat	blood
16	chr4:9966000-9967600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:9966000-9969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:9966000-9971600	Weak transcription	NHEK	skin
19	chr4:9966600-9968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:9966800-9967200	Strong transcription	HepG2	liver
21	chr4:9966800-9970000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:9967000-9969800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:9967000-9971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:9967200-9971600	Weak transcription	HepG2	liver
25	chr4:9967600-9968400	Strong transcription	Fetal Intestine Small	intestine
26	chr4:9968000-9968600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:9968400-9971400	Weak transcription	Fetal Intestine Small	intestine
28	chr4:9968600-9971200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:9968600-9971200	Weak transcription	Fetal Intestine Large	intestine
30	chr4:9968800-9969600	Weak transcription	HMEC	breast
31	chr4:9969600-9970400	Strong transcription	HMEC	breast
32	chr4:9969600-9971800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:9969800-9970000	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:9969800-9970200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:9969800-9970400	Enhancers	GM12878-XiMat	blood
36	chr4:9970000-9988600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:9970000-9989800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:9970200-9971000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:9970400-9971400	Weak transcription	GM12878-XiMat	blood
40	chr4:9970400-9971600	Weak transcription	HMEC	breast
41	chr4:9970400-9982600	Weak transcription	Gastric	stomach
42	chr4:9970600-9991200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:9971000-9971800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:9971200-9971800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:9971200-9972000	Strong transcription	Fetal Intestine Large	intestine
46	chr4:9971200-9972200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr4:9971200-9973800	Weak transcription	Small Intestine	intestine
48	chr4:9971400-9972200	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr4:9971400-9972200	ZNF genes & repeats	GM12878-XiMat	blood
50	chr4:9971600-9972000	ZNF genes & repeats	Pancreas	Pancrea

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