Variant report

Variant	esv3420565
Chromosome Location	chr5:118807077-118807585
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	CTCF	chr5:118806321-118807102	SK-N-SH	brain:	n/a	chr5:118806725-118806746
2	IRF1	chr5:118807537-118807571	K562	blood:	n/a	n/a
3	RAD21	chr5:118806404-118807116	HCT-116	colon:	n/a	chr5:118806724-118806743
4	RAD21	chr5:118806292-118807173	SK-N-SH	brain:	n/a	chr5:118806724-118806743

No.	Distal block	Cell Line	Cell type
1	chr5:118805949..118809401-chr5:118811224..118814012,4	K562	blood:
2	chr5:118806455..118807257-chr5:119079374..119080361,4	MCF-7	breast:
3	chr5:118806276..118807504-chr5:119079301..119080297,7	MCF-7	breast:
4	chr5:118806633..118808561-chr5:119073564..119075972,2	MCF-7	breast:
5	chr5:118804681..118808687-chr5:118810812..118814012,4	K562	blood:

Variant related genes	Relation type
HSD17B4	TF binding region
ENSG00000239084	TF binding region
ENSG00000133835	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181888560	chr5:118807130-118807131	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs439954	chr5:118807136-118807137	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541085131	chr5:118807164-118807165	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558777415	chr5:118807199-118807200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577121550	chr5:118807226-118807227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574865676	chr5:118807275-118807276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543211815	chr5:118807315-118807316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563182715	chr5:118807356-118807357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532183192	chr5:118807362-118807363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545645799	chr5:118807376-118807377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541081959	chr5:118807397-118807398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556999254	chr5:118807421-118807422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199913971	chr5:118807449-118807450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574114665	chr5:118807480-118807481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559244865	chr5:118807519-118807520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145376674	chr5:118807556-118807557	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs568152551	chr5:118807558-118807559	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs564038732	chr5:118807568-118807569	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:118789400-118831200	Weak transcription	NH-A	brain
6	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
7	chr5:118789600-118810600	Weak transcription	Osteobl	bone
8	chr5:118789600-118812000	Weak transcription	A549	lung
9	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
13	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
15	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
16	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:118792400-118815000	Weak transcription	K562	blood
18	chr5:118793400-118810000	Weak transcription	Placenta	Placenta
19	chr5:118793400-118812200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:118794800-118861200	Weak transcription	HSMM	muscle
21	chr5:118795200-118813400	Weak transcription	Small Intestine	intestine
22	chr5:118804200-118813600	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:118804400-118808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:118804400-118809400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:118804400-118813000	Weak transcription	Colonic Mucosa	Colon
27	chr5:118804400-118813200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:118804400-118820000	Weak transcription	NHDF-Ad	bronchial
29	chr5:118804600-118809400	Weak transcription	Liver	Liver
30	chr5:118804600-118809400	Weak transcription	HepG2	liver
31	chr5:118804600-118811800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:118804600-118811800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:118804600-118812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:118804600-118813400	Weak transcription	Right Ventricle	heart
35	chr5:118804600-118818800	Weak transcription	Stomach Mucosa	stomach
36	chr5:118804600-118819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:118804800-118811800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:118804800-118813400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:118804800-118821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:118804800-118837000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:118805200-118813400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:118805200-118839400	Weak transcription	NHEK	skin
43	chr5:118805400-118808000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:118805400-118810600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:118805400-118812000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:118805400-118812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:118805600-118808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:118805600-118813000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:118805600-118813400	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:118805600-118817200	Weak transcription	Fetal Brain Female	brain

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