Variant report

Variant	esv3327364
Chromosome Location	chr4:7639352-7644150
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: 361 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:361 , 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	rs74506491	chr4:7639388-7639389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568773671	chr4:7639391-7639392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200978009	chr4:7639394-7639395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202160967	chr4:7639395-7639396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372943898	chr4:7639400-7639401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539690046	chr4:7639406-7639407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543229597	chr4:7639410-7639411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561596347	chr4:7639415-7639416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112164528	chr4:7639417-7639418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566805951	chr4:7639422-7639423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72488936	chr4:7639455-7639456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555647244	chr4:7639457-7639458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574136162	chr4:7639461-7639462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538352831	chr4:7639480-7639481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186774288	chr4:7639494-7639495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114465666	chr4:7639524-7639525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545415426	chr4:7639538-7639539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56022132	chr4:7639550-7639551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140764980	chr4:7639587-7639588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542762425	chr4:7639600-7639601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561153465	chr4:7639616-7639617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528919617	chr4:7639621-7639622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550424515	chr4:7639649-7639650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116403931	chr4:7639737-7639738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144766673	chr4:7639738-7639739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192027680	chr4:7639751-7639752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151245390	chr4:7639774-7639775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2285790	chr4:7639795-7639796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549160252	chr4:7639818-7639819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554752575	chr4:7639836-7639837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567486276	chr4:7639862-7639863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372788761	chr4:7639865-7639866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538311269	chr4:7639868-7639869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386671271	chr4:7639905-7639906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2158276	chr4:7639906-7639907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538650500	chr4:7639924-7639925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554137404	chr4:7639925-7639926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183260823	chr4:7639938-7639939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185436173	chr4:7639940-7639941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73202520	chr4:7639974-7639975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189749857	chr4:7639977-7639978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544027528	chr4:7639983-7639984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562434418	chr4:7639985-7639986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372945694	chr4:7640016-7640017	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs200508131	chr4:7640022-7640023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs377200513	chr4:7640026-7640027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs369510540	chr4:7640033-7640034	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs373144930	chr4:7640040-7640041	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs369622205	chr4:7640041-7640042	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs200150123	chr4:7640085-7640086	Weak transcription Enhancers Bivalent Enhancer	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:59 , 50 per page) page: 1 2

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	chr4:7635200-7639800	Weak transcription	HepG2	liver
10	chr4:7635200-7645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7636800-7646000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:7637000-7641000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:7637000-7641200	Weak transcription	Esophagus	oesophagus
14	chr4:7637600-7639800	Weak transcription	Primary B cells from cord blood	blood
15	chr4:7637800-7640200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:7638400-7639800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:7638800-7640000	Weak transcription	Spleen	Spleen
18	chr4:7638800-7640400	Weak transcription	Fetal Stomach	stomach
19	chr4:7639200-7641800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:7639800-7640400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr4:7639800-7641200	Enhancers	Primary B cells from cord blood	blood
22	chr4:7639800-7642600	Enhancers	HepG2	liver
23	chr4:7640000-7640200	Bivalent Enhancer	Placenta	Placenta
24	chr4:7640000-7641400	Enhancers	Spleen	Spleen
25	chr4:7640200-7640600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:7640200-7641200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr4:7640200-7641400	Enhancers	Placenta	Placenta
28	chr4:7640200-7642000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:7640400-7641000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:7640400-7641000	Strong transcription	Fetal Stomach	stomach
31	chr4:7640400-7641200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr4:7640400-7641200	Enhancers	Fetal Intestine Small	intestine
33	chr4:7640400-7641400	Enhancers	Liver	Liver
34	chr4:7640400-7641600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr4:7640600-7641200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:7640600-7641800	Enhancers	Lung	lung
37	chr4:7641000-7641400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr4:7641000-7645800	Weak transcription	Fetal Stomach	stomach
39	chr4:7641200-7642200	ZNF genes & repeats	Esophagus	oesophagus
40	chr4:7641200-7643600	Weak transcription	Fetal Intestine Small	intestine
41	chr4:7641200-7646000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:7641400-7642000	Active TSS	Fetal Lung	lung
43	chr4:7641400-7642200	ZNF genes & repeats	Fetal Kidney	kidney
44	chr4:7641400-7642800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr4:7641600-7642000	ZNF genes & repeats	Fetal Brain Male	brain
46	chr4:7641600-7642200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:7641600-7642400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr4:7641800-7644800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:7642000-7643000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr4:7642000-7645000	Weak transcription	Fetal Brain Male	brain

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