Variant report

Variant	esv3352709
Chromosome Location	chr7:152770636-152789146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:152777364..152780271-chr7:152784559..152786127,2	K562	blood:
2	chr7:152765162..152767226-chr7:152771503..152773527,2	K562	blood:
3	chr7:152778420..152780194-chr7:152788675..152790497,2	K562	blood:
4	chr7:152777364..152780271-chr7:152784559..152786127,2	K562	blood:
5	chr7:152787813..152788395-chr7:152890287..152890803,2	MCF-7	breast:
6	chr7:152788621..152790562-chr7:153104603..153106199,2	K562	blood:
7	chr7:152782260..152784480-chr7:152996047..152998703,2	MCF-7	breast:
8	chr7:152778420..152780194-chr7:152788675..152790497,2	K562	blood:
9	chr7:152786648..152788875-chr7:152810703..152813051,2	K562	blood:

No data

Extended variants
information (count: 834 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555368138	chr7:152770640-152770641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77720033	chr7:152770650-152770651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542453996	chr7:152770679-152770680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544266910	chr7:152770692-152770693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561237606	chr7:152770728-152770729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113729972	chr7:152770765-152770766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368934415	chr7:152770767-152770768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370772204	chr7:152770775-152770776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185784021	chr7:152770818-152770819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs479978	chr7:152770866-152770867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532528374	chr7:152770868-152770869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12703236	chr7:152770879-152770880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144770623	chr7:152770880-152770881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190086849	chr7:152770882-152770883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548448287	chr7:152770916-152770917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183049168	chr7:152770920-152770921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531080113	chr7:152770925-152770926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552429350	chr7:152770960-152770961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570941466	chr7:152771106-152771107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570638433	chr7:152771122-152771123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186962570	chr7:152771134-152771135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192101591	chr7:152771139-152771140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73728578	chr7:152771146-152771147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147874623	chr7:152771147-152771148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560272702	chr7:152771192-152771193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142210652	chr7:152771201-152771202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543768946	chr7:152771208-152771209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527249992	chr7:152771251-152771252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34914983	chr7:152771269-152771270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534648889	chr7:152771288-152771289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541436560	chr7:152771290-152771291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559802815	chr7:152771293-152771294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184003598	chr7:152771300-152771301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151225416	chr7:152771308-152771309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77821279	chr7:152771320-152771321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17173921	chr7:152771323-152771324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs530990809	chr7:152771331-152771332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552489298	chr7:152771347-152771348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570805554	chr7:152771419-152771420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116710087	chr7:152771434-152771435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187697212	chr7:152771448-152771449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77862771	chr7:152771473-152771474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189811159	chr7:152771562-152771563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554628344	chr7:152771567-152771568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182102305	chr7:152771573-152771574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557006121	chr7:152771593-152771594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114122076	chr7:152771639-152771640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116409310	chr7:152771653-152771654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567387308	chr7:152771681-152771682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541427251	chr7:152771692-152771693	Weak transcription	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
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	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
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
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152763600-152780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:152768400-152779000	Weak transcription	Fetal Kidney	kidney
3	chr7:152769400-152771200	Enhancers	Brain Germinal Matrix	brain
4	chr7:152771200-152772200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:152772200-152772600	Enhancers	Brain Germinal Matrix	brain
6	chr7:152777600-152777800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:152777800-152778000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:152777800-152778000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:152779000-152779400	Enhancers	Fetal Kidney	kidney
10	chr7:152780600-152781000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:152781000-152788800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:152782400-152792400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:152783000-152783800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:152788600-152789000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:152788800-152789200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:152788800-152789200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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