Variant report

Variant	esv3324556
Chromosome Location	chr7:57927460-57930158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372447108	chr7:57927466-57927467	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs80048933	chr7:57927477-57927478	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539626995	chr7:57927481-57927482	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78729057	chr7:57927507-57927508	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143467925	chr7:57927525-57927526	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200444620	chr7:57927526-57927527	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112766514	chr7:57927530-57927531	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75179282	chr7:57927534-57927535	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557629351	chr7:57927535-57927536	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115512655	chr7:57927547-57927548	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79145579	chr7:57927552-57927553	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200281662	chr7:57927573-57927574	ZNF genes & repeats Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577284613	chr7:57927600-57927601	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs544351017	chr7:57927607-57927608	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs556674929	chr7:57927619-57927620	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs574922356	chr7:57927629-57927630	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs149927792	chr7:57927633-57927634	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs77233850	chr7:57927634-57927635	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs76899888	chr7:57927640-57927641	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs78352438	chr7:57927643-57927644	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs76509874	chr7:57927649-57927650	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs73697645	chr7:57927657-57927658	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs73697646	chr7:57927670-57927671	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs78040935	chr7:57927684-57927685	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs79768186	chr7:57927688-57927689	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs574851962	chr7:57927708-57927709	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs542233938	chr7:57927711-57927712	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs62459370	chr7:57927715-57927716	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs62459371	chr7:57927722-57927723	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs79668175	chr7:57927732-57927733	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs560812648	chr7:57927737-57927738	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs111480521	chr7:57927748-57927749	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs527932151	chr7:57927754-57927755	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs78490939	chr7:57927758-57927759	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs73347441	chr7:57927763-57927764	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs75979883	chr7:57927778-57927779	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs546387584	chr7:57927779-57927780	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs78794760	chr7:57927783-57927784	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs73697648	chr7:57927791-57927792	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs531455153	chr7:57927806-57927807	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs74195450	chr7:57927808-57927809	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs200174170	chr7:57927810-57927811	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs79757752	chr7:57927826-57927827	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs112966368	chr7:57927830-57927831	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs549491602	chr7:57927832-57927833	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs74596935	chr7:57927834-57927835	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs78066635	chr7:57927839-57927840	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs71212097	chr7:57927840-57927841	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs74689786	chr7:57927853-57927854	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs567797268	chr7:57927867-57927868	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57927000-57927600	Active TSS	Liver	Liver
2	chr7:57927000-57927800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:57927000-57928200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:57927400-57927800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
5	chr7:57927400-57929200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:57927600-57927800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:57927600-57927800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:57927600-57927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:57927600-57927800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
13	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Liver	Liver
14	chr7:57927600-57927800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
15	chr7:57927600-57927800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:57927600-57927800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr7:57927600-57927800	Bivalent/Poised TSS	Left Ventricle	heart
18	chr7:57927600-57927800	Bivalent/Poised TSS	Right Atrium	heart
19	chr7:57927600-57927800	Bivalent/Poised TSS	Right Ventricle	heart
20	chr7:57927600-57927800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:57927600-57928000	Bivalent/Poised TSS	Aorta	Aorta
22	chr7:57927600-57928000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
23	chr7:57927600-57928200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:57927600-57928200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	HMEC	breast
27	chr7:57927600-57928400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
28	chr7:57927600-57928400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:57927600-57928400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
30	chr7:57927600-57928400	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr7:57927600-57928600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
32	chr7:57927600-57928600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr7:57927600-57928600	ZNF genes & repeats	Spleen	Spleen
34	chr7:57927600-57928800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:57927600-57928800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr7:57927600-57928800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr7:57927600-57928800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:57927600-57928800	Active TSS	Rectal Smooth Muscle	rectum
41	chr7:57927600-57929000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:57927600-57929000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:57927600-57929000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:57927600-57929000	ZNF genes & repeats	Lung	lung
45	chr7:57927600-57929000	Bivalent/Poised TSS	Ovary	ovary
46	chr7:57927600-57929000	Active TSS	Pancreas	Pancrea
47	chr7:57927600-57929000	Active TSS	A549	lung
48	chr7:57927600-57929200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:57927600-57929200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:57927600-57929200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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