Variant report

Variant	esv3431090
Chromosome Location	chr7:129585690-129586055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129585963..129587755-chr7:129588456..129590565,2	MCF-7	breast:
2	chr7:129575738..129578941-chr7:129585169..129588929,4	K562	blood:
3	chr7:129584954..129586824-chr7:129590522..129592787,2	K562	blood:
4	chr7:129583013..129586797-chr7:129588457..129590317,4	K562	blood:

Variant related genes	Relation type
ENSG00000186591	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111335330	chr7:129585765-129585766	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188663028	chr7:129585768-129585769	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34297290	chr7:129585784-129585785	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146866533	chr7:129585842-129585843	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4728180	chr7:129585846-129585847	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537626080	chr7:129585859-129585860	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4731638	chr7:129585861-129585862	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575621096	chr7:129585867-129585868	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539955114	chr7:129585874-129585875	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558141885	chr7:129585883-129585884	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200894759	chr7:129585896-129585897	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs66759251	chr7:129585897-129585898	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181494138	chr7:129585978-129585979	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540679696	chr7:129585985-129585986	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:129555200-129587000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:129557400-129587000	Weak transcription	Fetal Lung	lung
7	chr7:129558000-129587600	Weak transcription	Brain Germinal Matrix	brain
8	chr7:129559600-129588000	Weak transcription	Esophagus	oesophagus
9	chr7:129559800-129588600	Weak transcription	Colonic Mucosa	Colon
10	chr7:129564400-129586800	Weak transcription	A549	lung
11	chr7:129565200-129587400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:129565400-129587400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:129565600-129586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:129565600-129587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:129565600-129588200	Weak transcription	HMEC	breast
16	chr7:129565800-129586600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:129565800-129586800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:129565800-129587000	Weak transcription	NH-A	brain
19	chr7:129565800-129587400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:129565800-129587600	Weak transcription	Brain Angular Gyrus	brain
21	chr7:129565800-129588200	Weak transcription	HUVEC	blood vessel
22	chr7:129566000-129586400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:129566000-129586400	Weak transcription	NHDF-Ad	bronchial
24	chr7:129566000-129587000	Weak transcription	Adipose Nuclei	Adipose
25	chr7:129566000-129587000	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:129566200-129586800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:129569000-129588000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:129569600-129586400	Weak transcription	Liver	Liver
29	chr7:129569800-129587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:129570000-129585800	Weak transcription	Placenta	Placenta
31	chr7:129570200-129587400	Weak transcription	Stomach Mucosa	stomach
32	chr7:129571000-129586200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:129573200-129588200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:129573400-129586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:129573400-129586800	Weak transcription	NHLF	lung
36	chr7:129573400-129587400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:129573600-129586200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:129573800-129586400	Weak transcription	Hela-S3	cervix
39	chr7:129573800-129588000	Weak transcription	HSMMtube	muscle
40	chr7:129573800-129588200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:129574000-129587000	Weak transcription	NHEK	skin
42	chr7:129574000-129587600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:129574000-129588600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:129575400-129587600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:129576000-129586200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:129577200-129587600	Weak transcription	Thymus	Thymus
47	chr7:129577800-129589600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr7:129578000-129586800	Weak transcription	Osteobl	bone
49	chr7:129578200-129586800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:129578400-129586800	Weak transcription	Fetal Kidney	kidney

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