Variant report

Variant	esv3365716
Chromosome Location	chr4:7640252-7643350
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	chr4:7641611..7644029-chr4:7645745..7648263,2	K562	blood:
2	chr4:7639269..7641408-chr4:7650130..7651685,2	MCF-7	breast:

Extended variants
information (count: 245 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182824760	chr4:7640270-7640271	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372770423	chr4:7640275-7640276	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141436910	chr4:7640277-7640278	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187209736	chr4:7640312-7640313	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554809438	chr4:7640323-7640324	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368086635	chr4:7640344-7640345	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534668144	chr4:7640362-7640363	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576684741	chr4:7640374-7640375	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547086746	chr4:7640391-7640392	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568187072	chr4:7640403-7640404	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145084178	chr4:7640409-7640410	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138988147	chr4:7640410-7640411	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559152872	chr4:7640434-7640435	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115446200	chr4:7640447-7640448	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545121632	chr4:7640452-7640453	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140284111	chr4:7640505-7640506	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143517144	chr4:7640523-7640524	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542657592	chr4:7640565-7640566	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561123853	chr4:7640575-7640576	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147976194	chr4:7640619-7640620	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536233267	chr4:7640634-7640635	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549704423	chr4:7640648-7640649	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548208834	chr4:7640649-7640650	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571456044	chr4:7640661-7640662	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532480773	chr4:7640704-7640705	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547460185	chr4:7640729-7640730	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115035682	chr4:7640734-7640735	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536205990	chr4:7640735-7640736	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554547758	chr4:7640774-7640775	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570250758	chr4:7640785-7640786	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60232025	chr4:7640808-7640809	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141615823	chr4:7640838-7640839	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62290660	chr4:7640864-7640865	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150514473	chr4:7640893-7640894	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553866729	chr4:7640897-7640898	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572178061	chr4:7640913-7640914	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540130421	chr4:7640970-7640971	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58116563	chr4:7641004-7641005	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576244497	chr4:7641019-7641020	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558128572	chr4:7641036-7641037	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138885101	chr4:7641037-7641038	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191247991	chr4:7641055-7641056	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532301502	chr4:7641105-7641106	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116802147	chr4:7641106-7641107	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28840758	chr4:7641133-7641134	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373305062	chr4:7641134-7641135	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201707420	chr4:7641141-7641142	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200630721	chr4:7641151-7641152	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35936150	chr4:7641152-7641153	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72616137	chr4:7641153-7641154	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
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
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
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7633200-7643800	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7633400-7644400	Weak transcription	Ovary	ovary
3	chr4:7633800-7646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7634600-7644200	Weak transcription	Brain Substantia Nigra	brain
5	chr4:7634600-7644800	Weak transcription	Brain Angular Gyrus	brain
6	chr4:7634600-7645000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:7635000-7641600	Weak transcription	Fetal Brain Male	brain
8	chr4:7635000-7644600	Weak transcription	Brain Germinal Matrix	brain
9	chr4:7635200-7645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:7636800-7646000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:7637000-7641000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:7637000-7641200	Weak transcription	Esophagus	oesophagus
13	chr4:7638800-7640400	Weak transcription	Fetal Stomach	stomach
14	chr4:7639200-7641800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:7639800-7640400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:7639800-7641200	Enhancers	Primary B cells from cord blood	blood
17	chr4:7639800-7642600	Enhancers	HepG2	liver
18	chr4:7640000-7641400	Enhancers	Spleen	Spleen
19	chr4:7640200-7640600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:7640200-7641200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr4:7640200-7641400	Enhancers	Placenta	Placenta
22	chr4:7640200-7642000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr4:7640400-7641000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:7640400-7641000	Strong transcription	Fetal Stomach	stomach
25	chr4:7640400-7641200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:7640400-7641200	Enhancers	Fetal Intestine Small	intestine
27	chr4:7640400-7641400	Enhancers	Liver	Liver
28	chr4:7640400-7641600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr4:7640600-7641200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:7640600-7641800	Enhancers	Lung	lung
31	chr4:7641000-7641400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr4:7641000-7645800	Weak transcription	Fetal Stomach	stomach
33	chr4:7641200-7642200	ZNF genes & repeats	Esophagus	oesophagus
34	chr4:7641200-7643600	Weak transcription	Fetal Intestine Small	intestine
35	chr4:7641200-7646000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:7641400-7642000	Active TSS	Fetal Lung	lung
37	chr4:7641400-7642200	ZNF genes & repeats	Fetal Kidney	kidney
38	chr4:7641400-7642800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:7641600-7642000	ZNF genes & repeats	Fetal Brain Male	brain
40	chr4:7641600-7642200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:7641600-7642400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:7641800-7644800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:7642000-7643000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr4:7642000-7645000	Weak transcription	Fetal Brain Male	brain
45	chr4:7642200-7644200	Weak transcription	Fetal Kidney	kidney
46	chr4:7642200-7646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:7642400-7645600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:7642600-7647200	Weak transcription	HepG2	liver
49	chr4:7642800-7644600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:7643000-7644800	Weak transcription	Monocytes-CD14+_RO01746	blood

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