Variant report

Variant	esv3448695
Chromosome Location	chr7:57926710-57930408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 262 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28641189	chr7:57926728-57926729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553154069	chr7:57926729-57926730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548817286	chr7:57926747-57926748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201269705	chr7:57926752-57926753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4103232	chr7:57926761-57926762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567044275	chr7:57926777-57926778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62459369	chr7:57926804-57926805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552282611	chr7:57926822-57926823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201327879	chr7:57926829-57926830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201703642	chr7:57926893-57926894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374571290	chr7:57926894-57926895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570443059	chr7:57926916-57926917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566683324	chr7:57926919-57926920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555839069	chr7:57926920-57926921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77756019	chr7:57926952-57926953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574397923	chr7:57926956-57926957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192080665	chr7:57926985-57926986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200605888	chr7:57926993-57926994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77654220	chr7:57926996-57926997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535328506	chr7:57926997-57926998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553570822	chr7:57927000-57927001	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs199607376	chr7:57927002-57927003	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77149835	chr7:57927005-57927006	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571935240	chr7:57927015-57927016	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545672007	chr7:57927028-57927029	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79951642	chr7:57927065-57927066	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565425753	chr7:57927097-57927098	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577224405	chr7:57927111-57927112	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs371978394	chr7:57927138-57927139	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184732462	chr7:57927144-57927145	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139069153	chr7:57927145-57927146	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530439362	chr7:57927148-57927149	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78571183	chr7:57927174-57927175	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548929209	chr7:57927191-57927192	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368493037	chr7:57927199-57927200	ZNF genes & repeats Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560750138	chr7:57927210-57927211	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555637228	chr7:57927222-57927223	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs376537543	chr7:57927230-57927231	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375711364	chr7:57927238-57927239	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs59834664	chr7:57927249-57927250	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527924520	chr7:57927289-57927290	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77931232	chr7:57927290-57927291	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570529461	chr7:57927313-57927314	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113300183	chr7:57927319-57927320	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574375916	chr7:57927325-57927326	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144125634	chr7:57927327-57927328	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs370112304	chr7:57927330-57927331	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377446317	chr7:57927352-57927353	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375194181	chr7:57927359-57927360	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs549378923	chr7:57927386-57927387	ZNF genes & repeats 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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57925400-57927000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:57927000-57927200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr7:57927000-57927600	Active TSS	Liver	Liver
4	chr7:57927000-57927800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:57927000-57928200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:57927400-57927800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
7	chr7:57927400-57929200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:57927600-57927800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:57927600-57927800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:57927600-57927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:57927600-57927800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Liver	Liver
16	chr7:57927600-57927800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr7:57927600-57927800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr7:57927600-57927800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr7:57927600-57927800	Bivalent/Poised TSS	Left Ventricle	heart
20	chr7:57927600-57927800	Bivalent/Poised TSS	Right Atrium	heart
21	chr7:57927600-57927800	Bivalent/Poised TSS	Right Ventricle	heart
22	chr7:57927600-57927800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:57927600-57928000	Bivalent/Poised TSS	Aorta	Aorta
24	chr7:57927600-57928000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
25	chr7:57927600-57928200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:57927600-57928200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	HMEC	breast
29	chr7:57927600-57928400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
30	chr7:57927600-57928400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:57927600-57928400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
32	chr7:57927600-57928400	Flanking Bivalent TSS/Enh	Placenta	Placenta
33	chr7:57927600-57928600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
34	chr7:57927600-57928600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr7:57927600-57928600	ZNF genes & repeats	Spleen	Spleen
36	chr7:57927600-57928800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:57927600-57928800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr7:57927600-57928800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr7:57927600-57928800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
42	chr7:57927600-57928800	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:57927600-57929000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:57927600-57929000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:57927600-57929000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:57927600-57929000	ZNF genes & repeats	Lung	lung
47	chr7:57927600-57929000	Bivalent/Poised TSS	Ovary	ovary
48	chr7:57927600-57929000	Active TSS	Pancreas	Pancrea
49	chr7:57927600-57929000	Active TSS	A549	lung
50	chr7:57927600-57929200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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