Variant report

Variant	esv1749973
Chromosome Location	chr7:5021223-5021225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr7:5020974-5021273	K562	blood:	n/a	chr7:5021136-5021149
2	ELF1	chr7:5020905-5021331	GM12878	blood:	n/a	chr7:5021136-5021149

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5018855..5021498-chr7:5040650..5043052,2	K562	blood:

Variant related genes	Relation type
RNF216P1	TF binding region
RBAK-RBAKDN	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 78 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367692679	chr7:5021223-5021224	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	17170743	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5014600-5023800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:5014600-5024400	Weak transcription	Small Intestine	intestine
3	chr7:5014600-5036200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5014600-5041000	Weak transcription	Stomach Mucosa	stomach
5	chr7:5014800-5024400	Weak transcription	Colonic Mucosa	Colon
6	chr7:5014800-5026200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:5014800-5040000	Weak transcription	Right Atrium	heart
8	chr7:5014800-5041400	Weak transcription	Fetal Heart	heart
9	chr7:5015200-5024000	Weak transcription	HMEC	breast
10	chr7:5015200-5024800	Weak transcription	Right Ventricle	heart
11	chr7:5015200-5031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:5015600-5029000	Weak transcription	Psoas Muscle	Psoas
13	chr7:5015800-5023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:5015800-5039200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:5015800-5041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:5016000-5021400	Strong transcription	Hela-S3	cervix
17	chr7:5016000-5021400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:5016000-5022000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:5016000-5022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:5016000-5038200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:5016000-5042000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:5016200-5021400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:5016200-5021400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:5016200-5021600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:5016200-5021600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr7:5016200-5021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:5016200-5022200	Strong transcription	Fetal Thymus	thymus
28	chr7:5016200-5023000	Strong transcription	Adipose Nuclei	Adipose
29	chr7:5016200-5038400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:5016200-5039000	Strong transcription	Liver	Liver
31	chr7:5016400-5021600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:5016400-5022200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:5016600-5021400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:5016600-5040000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:5017000-5024600	Weak transcription	Aorta	Aorta
36	chr7:5017400-5024400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:5017600-5024600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:5017600-5024600	Weak transcription	Spleen	Spleen
39	chr7:5017600-5033200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:5017800-5024000	Weak transcription	Brain Germinal Matrix	brain
41	chr7:5017800-5045400	Weak transcription	Fetal Brain Male	brain
42	chr7:5018000-5022000	Strong transcription	NH-A	brain
43	chr7:5018000-5024600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:5018000-5027800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:5018200-5024400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:5018200-5024400	Weak transcription	Brain Substantia Nigra	brain
47	chr7:5018200-5024400	Weak transcription	Left Ventricle	heart
48	chr7:5018200-5024600	Weak transcription	Fetal Brain Female	brain
49	chr7:5018200-5041800	Strong transcription	Dnd41	blood
50	chr7:5018400-5021400	Strong transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links