Variant report

Variant	esv3390767
Chromosome Location	chr4:7540802-7542900
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	chr4:7520525..7523407-chr4:7542100..7544094,2	K562	blood:
2	chr4:7540632..7544452-chr4:7547712..7552910,6	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143428252	chr4:7540810-7540811	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs376095294	chr4:7540817-7540818	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192224570	chr4:7540830-7540831	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73214633	chr4:7540831-7540832	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76031103	chr4:7540833-7540834	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147210196	chr4:7540834-7540835	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577552990	chr4:7540905-7540906	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148696758	chr4:7540917-7540918	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548665350	chr4:7540978-7540979	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560848142	chr4:7540980-7540981	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs553557000	chr4:7541027-7541028	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79599936	chr4:7541061-7541062	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs182833062	chr4:7541064-7541065	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs538937302	chr4:7541105-7541106	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs547573401	chr4:7541131-7541132	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs565868565	chr4:7541135-7541136	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs536494879	chr4:7541141-7541142	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs555077055	chr4:7541146-7541147	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs12504682	chr4:7541147-7541148	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537425910	chr4:7541155-7541156	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs187258725	chr4:7541163-7541164	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs577428104	chr4:7541190-7541191	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs541319165	chr4:7541217-7541218	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141377570	chr4:7541234-7541235	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574670770	chr4:7541242-7541243	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542053651	chr4:7541349-7541350	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561002457	chr4:7541354-7541355	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565472244	chr4:7541374-7541375	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202194014	chr4:7541407-7541408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531327478	chr4:7541410-7541411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13146046	chr4:7541427-7541428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371567654	chr4:7541431-7541432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71952728	chr4:7541432-7541433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13128408	chr4:7541441-7541442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13147662	chr4:7541455-7541456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543359321	chr4:7541524-7541525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564737530	chr4:7541525-7541526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373594764	chr4:7541579-7541580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192595177	chr4:7541650-7541651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547709043	chr4:7541677-7541678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13151786	chr4:7541747-7541748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529898169	chr4:7541759-7541760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371751039	chr4:7541760-7541761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185521170	chr4:7541786-7541787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34462538	chr4:7541798-7541799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537161882	chr4:7541819-7541820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13151992	chr4:7541829-7541830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545932817	chr4:7541873-7541874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368022264	chr4:7541878-7541879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115192060	chr4:7541879-7541880	Weak transcription 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	chr4:7533600-7542800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:7536800-7542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7539200-7541200	Enhancers	Liver	Liver
4	chr4:7540000-7541200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:7540000-7541200	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:7540000-7541400	Enhancers	Ovary	ovary
7	chr4:7540600-7541400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:7540600-7541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:7540600-7541400	Flanking Active TSS	Hela-S3	cervix
10	chr4:7540800-7541000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr4:7540800-7541000	Enhancers	Brain Angular Gyrus	brain
12	chr4:7540800-7541200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr4:7540800-7541200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:7540800-7541200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:7540800-7541200	Enhancers	Brain Hippocampus Middle	brain
16	chr4:7540800-7541200	Enhancers	Brain Substantia Nigra	brain
17	chr4:7540800-7541400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:7540800-7541400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:7540800-7541400	Active TSS	HepG2	liver
20	chr4:7540800-7543400	Enhancers	Spleen	Spleen
21	chr4:7541000-7541200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:7541000-7541200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr4:7541000-7541400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:7541000-7541400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:7541000-7542000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:7541000-7542600	Weak transcription	Right Ventricle	heart
27	chr4:7541000-7549000	Weak transcription	Brain Angular Gyrus	brain
28	chr4:7541200-7542000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:7541200-7547400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:7541200-7549000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:7541400-7542000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:7541400-7542000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:7541400-7542000	Enhancers	Hela-S3	cervix
34	chr4:7541400-7542600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr4:7541400-7548200	Weak transcription	Ovary	ovary
36	chr4:7541800-7542400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:7542000-7542400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr4:7542000-7542400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr4:7542000-7542400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr4:7542000-7542400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:7542000-7543000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:7542000-7543000	Flanking Active TSS	Hela-S3	cervix
43	chr4:7542000-7544200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:7542200-7542400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr4:7542400-7542800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr4:7542400-7542800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:7542400-7548800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:7542600-7542800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr4:7542600-7542800	Enhancers	Right Ventricle	heart
50	chr4:7542800-7543000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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