Variant report

Variant	esv2762712
Chromosome Location	chr7:152424538-152434873
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	chr7:152431661..152434312-chr7:152439068..152440975,2	K562	blood:

Extended variants
information (count: 410 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76321951	chr7:152424544-152424545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148592569	chr7:152424554-152424555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555371232	chr7:152424645-152424646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190089962	chr7:152424665-152424666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181756881	chr7:152424673-152424674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6979418	chr7:152424679-152424680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144619574	chr7:152424692-152424693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376835895	chr7:152424702-152424703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187377683	chr7:152424773-152424774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142990558	chr7:152424779-152424780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376585008	chr7:152426200-152426201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150886928	chr7:152426204-152426205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551990279	chr7:152426205-152426206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184902912	chr7:152426206-152426207	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575402909	chr7:152426207-152426208	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189797722	chr7:152426209-152426210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546887416	chr7:152426212-152426213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs568321658	chr7:152426215-152426216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552094720	chr7:152426224-152426225	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535843527	chr7:152426229-152426230	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139353395	chr7:152426231-152426232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569414949	chr7:152426233-152426234	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181894643	chr7:152426236-152426237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558411157	chr7:152426245-152426246	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150073768	chr7:152426269-152426270	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144392519	chr7:152426272-152426273	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140988968	chr7:152426291-152426292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574348666	chr7:152426293-152426294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547951142	chr7:152426304-152426305	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563031026	chr7:152426305-152426306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184171566	chr7:152426307-152426308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545518791	chr7:152426317-152426318	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189392394	chr7:152426322-152426323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181800946	chr7:152426328-152426329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566190482	chr7:152426339-152426340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368746735	chr7:152426342-152426343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546107847	chr7:152426344-152426345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546528287	chr7:152426348-152426349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113156085	chr7:152426355-152426356	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529262875	chr7:152426357-152426358	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11764451	chr7:152426359-152426360	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569350591	chr7:152426371-152426372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs13438279	chr7:152426380-152426381	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11764470	chr7:152426386-152426387	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566905630	chr7:152426392-152426393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369526220	chr7:152426402-152426403	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs141684016	chr7:152426411-152426412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10242042	chr7:152426433-152426434	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561622138	chr7:152426443-152426444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541406423	chr7:152426455-152426456	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152424400-152424800	Enhancers	Placenta	Placenta
2	chr7:152426200-152426800	Active TSS	Dnd41	blood
3	chr7:152428200-152428800	Enhancers	Adipose Nuclei	Adipose
4	chr7:152428400-152428600	Enhancers	Right Atrium	heart
5	chr7:152428400-152428800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:152428400-152428800	Enhancers	Left Ventricle	heart
7	chr7:152428600-152433000	Weak transcription	Right Atrium	heart
8	chr7:152428800-152429000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:152428800-152429200	Weak transcription	Adipose Nuclei	Adipose
10	chr7:152429000-152433200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:152429800-152430800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:152430200-152430400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:152430400-152435600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:152430800-152434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:152431800-152433000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:152431800-152433800	Enhancers	Fetal Brain Male	brain
17	chr7:152431800-152434400	Enhancers	Brain Germinal Matrix	brain
18	chr7:152432000-152432400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr7:152432200-152432400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr7:152432200-152432400	Enhancers	Hela-S3	cervix
21	chr7:152432200-152434000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:152432400-152432600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr7:152432400-152432600	Flanking Active TSS	Hela-S3	cervix
24	chr7:152432400-152433000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:152432400-152433600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:152432400-152433600	Enhancers	HUVEC	blood vessel
27	chr7:152432400-152434000	Enhancers	Fetal Kidney	kidney
28	chr7:152432400-152434200	Enhancers	Fetal Stomach	stomach
29	chr7:152432400-152434400	Enhancers	Fetal Muscle Leg	muscle
30	chr7:152432400-152434600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:152432600-152432800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr7:152432600-152432800	Enhancers	Hela-S3	cervix
33	chr7:152432600-152432800	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr7:152432600-152433000	Enhancers	Left Ventricle	heart
35	chr7:152432600-152434200	Enhancers	Fetal Muscle Trunk	muscle
36	chr7:152432800-152433000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:152432800-152433000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:152432800-152433000	Bivalent Enhancer	HepG2	liver
39	chr7:152432800-152433000	Bivalent Enhancer	K562	blood
40	chr7:152432800-152433200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:152432800-152433200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr7:152432800-152433200	Flanking Active TSS	Hela-S3	cervix
43	chr7:152432800-152433800	Enhancers	Fetal Lung	lung
44	chr7:152432800-152434200	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:152433000-152433600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr7:152433000-152433800	Weak transcription	Left Ventricle	heart
47	chr7:152433000-152434000	Enhancers	Right Atrium	heart
48	chr7:152433000-152434800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:152433200-152433600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr7:152433200-152433800	Enhancers	Hela-S3	cervix

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