Variant report

Variant	esv3371039
Chromosome Location	chr7:57928010-57929758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375089178	chr7:57928014-57928015	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs149403583	chr7:57928030-57928031	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs140169621	chr7:57928055-57928056	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs144943404	chr7:57928056-57928057	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs112982929	chr7:57928057-57928058	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs146989107	chr7:57928060-57928061	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs142789872	chr7:57928068-57928069	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs148571216	chr7:57928075-57928076	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs144154544	chr7:57928080-57928081	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs556984723	chr7:57928085-57928086	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs370708243	chr7:57928101-57928102	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572711024	chr7:57928138-57928139	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs7783952	chr7:57928143-57928144	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs367546649	chr7:57928160-57928161	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs564777627	chr7:57928187-57928188	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs112553268	chr7:57928197-57928198	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs200432374	chr7:57928207-57928208	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs113067316	chr7:57928238-57928239	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs370166709	chr7:57928239-57928240	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs543608056	chr7:57928264-57928265	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs561452487	chr7:57928266-57928267	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs528917757	chr7:57928293-57928294	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs547007109	chr7:57928311-57928312	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs114353764	chr7:57928332-57928333	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs72501663	chr7:57928333-57928334	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs565513198	chr7:57928357-57928358	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs200796249	chr7:57928365-57928366	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs11764531	chr7:57928370-57928371	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs551422935	chr7:57928400-57928401	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs569924080	chr7:57928416-57928417	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs368715913	chr7:57928426-57928427	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs537288672	chr7:57928455-57928456	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs13221633	chr7:57928462-57928463	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs564023161	chr7:57928477-57928478	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs140938787	chr7:57928478-57928479	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs113279046	chr7:57928479-57928480	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs200171514	chr7:57928482-57928483	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs59395725	chr7:57928484-57928485	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs549152118	chr7:57928503-57928504	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs57005774	chr7:57928504-57928505	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs9801312	chr7:57928509-57928510	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs535918704	chr7:57928545-57928546	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs376426939	chr7:57928547-57928548	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs554155967	chr7:57928578-57928579	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs113576004	chr7:57928600-57928601	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111535389	chr7:57928614-57928615	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190047933	chr7:57928620-57928621	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539803412	chr7:57928621-57928622	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs563394097	chr7:57928679-57928680	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558206057	chr7:57928696-57928697	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57927000-57928200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:57927400-57929200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:57927600-57928200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
4	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:57927600-57928200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	HMEC	breast
7	chr7:57927600-57928400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
8	chr7:57927600-57928400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:57927600-57928400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
10	chr7:57927600-57928400	Flanking Bivalent TSS/Enh	Placenta	Placenta
11	chr7:57927600-57928600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
12	chr7:57927600-57928600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
13	chr7:57927600-57928600	ZNF genes & repeats	Spleen	Spleen
14	chr7:57927600-57928800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:57927600-57928800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr7:57927600-57928800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr7:57927600-57928800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:57927600-57928800	Active TSS	Rectal Smooth Muscle	rectum
21	chr7:57927600-57929000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:57927600-57929000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:57927600-57929000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:57927600-57929000	ZNF genes & repeats	Lung	lung
25	chr7:57927600-57929000	Bivalent/Poised TSS	Ovary	ovary
26	chr7:57927600-57929000	Active TSS	Pancreas	Pancrea
27	chr7:57927600-57929000	Active TSS	A549	lung
28	chr7:57927600-57929200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:57927600-57929200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:57927600-57929200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:57927600-57929200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:57927600-57929200	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr7:57927600-57929200	ZNF genes & repeats	HepG2	liver
34	chr7:57927600-57929400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:57927800-57928200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:57927800-57928400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr7:57927800-57928400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:57927800-57928400	ZNF genes & repeats	Gastric	stomach
39	chr7:57927800-57928600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:57927800-57928800	Active TSS	Primary T cells from cord blood	blood
41	chr7:57927800-57928800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:57927800-57928800	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr7:57927800-57929000	Bivalent/Poised TSS	Esophagus	oesophagus
44	chr7:57927800-57929000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr7:57927800-57929000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr7:57927800-57929200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:57927800-57929200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
48	chr7:57927800-57929200	Bivalent/Poised TSS	HSMMtube	muscle
49	chr7:57927800-57929200	Bivalent/Poised TSS	Osteobl	bone
50	chr7:57927800-57929400	Active TSS	Liver	Liver

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