Variant report

Variant	esv3368227
Chromosome Location	chr7:151008519-151012117
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:151011847..151012777-chr7:151479713..151480213,2	K562	blood:
2	chr7:151011817..151012794-chr7:151048314..151048902,2	K562	blood:
3	chr7:150869567..150870218-chr7:151008807..151009340,2	MCF-7	breast:
4	chr7:151011858..151012796-chr7:151456326..151457276,5	K562	blood:
5	chr7:151011836..151012855-chr7:151047204..151048404,5	MCF-7	breast:
6	chr7:151011534..151013042-chr7:151145445..151146403,11	K562	blood:
7	chr7:151011833..151013285-chr7:151046969..151048654,9	MCF-7	breast:
8	chr7:151011871..151012769-chr7:151039640..151040156,2	MCF-7	breast:
9	chr7:151009471..151012470-chr7:151038728..151041715,2	MCF-7	breast:
10	chr7:151007559..151010367-chr7:151010693..151013847,5	K562	blood:
11	chr7:151008602..151011517-chr7:151037631..151041750,3	MCF-7	breast:
12	chr7:151006336..151009328-chr7:151045364..151047522,2	K562	blood:
13	chr7:150998233..151001013-chr7:151008605..151011052,2	K562	blood:
14	chr7:151007559..151010367-chr7:151010693..151013847,5	K562	blood:
15	chr7:150928086..150930753-chr7:151008502..151010866,3	MCF-7	breast:
16	chr7:150821142..150821739-chr7:151008663..151009201,2	K562	blood:
17	chr7:151011864..151012464-chr7:151385043..151385782,2	K562	blood:
18	chr7:151011867..151012792-chr7:151046918..151048035,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000033100	chromatin interactions
ENSG00000013374	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs549834638	chr7:151008545-151008546	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143838395	chr7:151008558-151008559	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191181086	chr7:151008584-151008585	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568636547	chr7:151008598-151008599	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182261754	chr7:151008644-151008645	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368402957	chr7:151008659-151008660	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs147234804	chr7:151008668-151008669	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62492421	chr7:151008703-151008704	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149811426	chr7:151008779-151008780	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144722908	chr7:151008798-151008799	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556609077	chr7:151008808-151008809	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs386719429	chr7:151008824-151008825	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116693495	chr7:151008834-151008835	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551171995	chr7:151008847-151008848	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186958413	chr7:151008894-151008895	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs441841	chr7:151008901-151008902	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2792440	chr7:151008925-151008926	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2530461	chr7:151008947-151008948	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192972025	chr7:151008972-151008973	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185163069	chr7:151008984-151008985	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543098327	chr7:151009013-151009014	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200343357	chr7:151009028-151009029	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201343032	chr7:151009029-151009030	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs76760668	chr7:151009030-151009031	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540289179	chr7:151009031-151009032	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397777826	chr7:151009038-151009039	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528941922	chr7:151009044-151009045	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs535508078	chr7:151009049-151009050	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548683409	chr7:151009089-151009090	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs79107941	chr7:151009091-151009092	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370539179	chr7:151009145-151009146	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575823751	chr7:151009213-151009214	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs190403846	chr7:151009220-151009221	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs561678569	chr7:151009222-151009223	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539995707	chr7:151009230-151009231	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192922728	chr7:151009294-151009295	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148674054	chr7:151009341-151009342	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573560267	chr7:151009344-151009345	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs401168	chr7:151009348-151009349	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570039450	chr7:151009354-151009355	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs438906	chr7:151009359-151009360	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143343427	chr7:151009396-151009397	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs439031	chr7:151009411-151009412	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375098628	chr7:151009489-151009490	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs378140	chr7:151009517-151009518	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs558030609	chr7:151009540-151009541	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115997904	chr7:151009567-151009568	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563850593	chr7:151009568-151009569	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543711571	chr7:151009576-151009577	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556651085	chr7:151009581-151009582	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	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
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151002600-151010600	Weak transcription	Right Atrium	heart
2	chr7:151006600-151010600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:151006800-151010000	Weak transcription	Fetal Lung	lung
4	chr7:151006800-151010800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:151006800-151010800	Weak transcription	NHDF-Ad	bronchial
6	chr7:151007000-151010600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:151008200-151008800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:151008400-151008800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:151008400-151009800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:151008800-151009000	Weak transcription	Spleen	Spleen
11	chr7:151008800-151011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:151009400-151009800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:151009800-151010000	Enhancers	Dnd41	blood
14	chr7:151010000-151010200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:151010000-151010400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:151010000-151010400	Enhancers	Primary T cells from cord blood	blood
17	chr7:151010000-151010400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr7:151010000-151010400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:151010000-151010400	Flanking Active TSS	Dnd41	blood
20	chr7:151010000-151011200	Bivalent Enhancer	Fetal Brain Male	brain
21	chr7:151010000-151011600	Enhancers	Fetal Lung	lung
22	chr7:151010000-151012200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:151010000-151012200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:151010200-151012000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:151010400-151011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:151010400-151011800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:151010400-151011800	Enhancers	NHLF	lung
28	chr7:151010400-151012000	Weak transcription	Dnd41	blood
29	chr7:151010600-151010800	Enhancers	Right Atrium	heart
30	chr7:151010600-151011000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:151010600-151011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:151010600-151011600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:151010800-151011000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:151010800-151011000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:151010800-151011200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:151010800-151011200	Enhancers	Right Ventricle	heart
37	chr7:151010800-151011400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:151010800-151011600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:151010800-151011600	Enhancers	HSMM	muscle
40	chr7:151010800-151011800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:151010800-151011800	Enhancers	NHDF-Ad	bronchial
42	chr7:151010800-151011800	Enhancers	Osteobl	bone
43	chr7:151010800-151012000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:151010800-151012200	Enhancers	Adipose Nuclei	Adipose
45	chr7:151010800-151012600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:151010800-151015800	Weak transcription	Right Atrium	heart
47	chr7:151011000-151011400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:151011000-151011400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr7:151011000-151011600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:151011000-151011600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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