Variant report

Variant	esv9091
Chromosome Location	chr7:61079383-61085316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1410 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1410 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370870514	chr7:61079386-61079387	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374213598	chr7:61079396-61079397	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs76523849	chr7:61079397-61079398	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553468417	chr7:61079398-61079399	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573074630	chr7:61079401-61079402	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs377409701	chr7:61079406-61079407	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113660404	chr7:61079408-61079409	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62460907	chr7:61079409-61079410	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371062096	chr7:61079412-61079413	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62460908	chr7:61079417-61079418	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374448455	chr7:61079419-61079420	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368637094	chr7:61079420-61079421	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs62460909	chr7:61079421-61079422	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112843142	chr7:61079434-61079435	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147273244	chr7:61079436-61079437	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200561916	chr7:61079437-61079438	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371222097	chr7:61079441-61079442	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112221971	chr7:61079444-61079445	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373840417	chr7:61079452-61079453	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532830903	chr7:61079458-61079459	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62460910	chr7:61079459-61079460	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs367999158	chr7:61079465-61079466	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs62460911	chr7:61079468-61079469	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372268581	chr7:61079469-61079470	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375522827	chr7:61079470-61079471	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369646126	chr7:61079475-61079476	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111991019	chr7:61079477-61079478	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs372400076	chr7:61079479-61079480	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112970149	chr7:61079482-61079483	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562876543	chr7:61079483-61079484	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs377193896	chr7:61079486-61079487	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369977761	chr7:61079489-61079490	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148862962	chr7:61079492-61079493	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138246332	chr7:61079496-61079497	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373168826	chr7:61079500-61079501	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375922096	chr7:61079504-61079505	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201806385	chr7:61079506-61079507	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548627364	chr7:61079507-61079508	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs373456016	chr7:61079509-61079510	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376530746	chr7:61079523-61079524	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs370600297	chr7:61079525-61079526	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147255463	chr7:61079526-61079527	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377122122	chr7:61079527-61079528	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs373182764	chr7:61079529-61079530	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376409310	chr7:61079530-61079531	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566976779	chr7:61079532-61079533	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs9942655	chr7:61079536-61079537	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs201894662	chr7:61079543-61079544	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140180819	chr7:61079544-61079545	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs66949191	chr7:61079546-61079547	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61078800-61086000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:61079000-61079400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:61079000-61079400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:61079000-61079400	ZNF genes & repeats	Pancreas	Pancrea
5	chr7:61079000-61079600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
6	chr7:61079000-61079600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
7	chr7:61079000-61079600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
8	chr7:61079000-61079600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
9	chr7:61079000-61079600	ZNF genes & repeats	Fetal Thymus	thymus
10	chr7:61079000-61079600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
11	chr7:61079000-61079800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr7:61079000-61079800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:61079000-61079800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:61079000-61079800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr7:61079000-61079800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:61079000-61079800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:61079000-61079800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:61079000-61079800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:61079000-61079800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
21	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
23	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr7:61079000-61079800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:61079000-61079800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr7:61079000-61079800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:61079000-61079800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
32	chr7:61079000-61079800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr7:61079000-61079800	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr7:61079000-61079800	Flanking Active TSS	Aorta	Aorta
35	chr7:61079000-61079800	ZNF genes & repeats	Liver	Liver
36	chr7:61079000-61079800	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr7:61079000-61079800	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr7:61079000-61079800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
39	chr7:61079000-61079800	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr7:61079000-61079800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr7:61079000-61079800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:61079000-61079800	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr7:61079000-61079800	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr7:61079000-61079800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr7:61079000-61079800	ZNF genes & repeats	Fetal Brain Male	brain
46	chr7:61079000-61079800	ZNF genes & repeats	Fetal Heart	heart
47	chr7:61079000-61079800	ZNF genes & repeats	Fetal Kidney	kidney
48	chr7:61079000-61079800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr7:61079000-61079800	ZNF genes & repeats	Fetal Lung	lung
50	chr7:61079000-61079800	ZNF genes & repeats	Placenta	Placenta

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