Variant report

Variant	esv3489583
Chromosome Location	chr5:177666437-177666976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:
2	chr5:177664686..177666446-chr5:177667061..177669063,2	MCF-7	breast:
3	chr5:177658397..177661582-chr5:177665181..177668920,4	MCF-7	breast:
4	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
5	chr5:177665861..177669287-chr5:177672890..177677511,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175309	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551497979	chr5:177666439-177666440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188855010	chr5:177666465-177666466	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114064744	chr5:177666472-177666473	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72819009	chr5:177666476-177666477	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372166978	chr5:177666487-177666488	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180783877	chr5:177666518-177666519	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553023686	chr5:177666519-177666520	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3860774	chr5:177666532-177666533	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538491527	chr5:177666544-177666545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368610857	chr5:177666566-177666567	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4045767	chr5:177666599-177666600	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4045768	chr5:177666642-177666643	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4045769	chr5:177666654-177666655	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4045770	chr5:177666676-177666677	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557781933	chr5:177666683-177666684	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564430892	chr5:177666684-177666685	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13357628	chr5:177666697-177666698	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533416920	chr5:177666702-177666703	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2335240	chr5:177666708-177666709	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2335241	chr5:177666709-177666710	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2335242	chr5:177666711-177666712	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562135473	chr5:177666732-177666733	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373444040	chr5:177666752-177666753	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13355913	chr5:177666764-177666765	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573978755	chr5:177666786-177666787	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541702228	chr5:177666793-177666794	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559842859	chr5:177666794-177666795	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189544951	chr5:177666807-177666808	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373394635	chr5:177666819-177666820	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533520059	chr5:177666825-177666826	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111547335	chr5:177666862-177666863	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs57859094	chr5:177666896-177666897	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563339728	chr5:177666938-177666939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115741926	chr5:177666958-177666959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177660200-177667000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:177660200-177667000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:177660200-177667600	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:177660400-177668000	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:177661400-177667800	Enhancers	Adipose Nuclei	Adipose
6	chr5:177661400-177669600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:177661600-177671600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:177661800-177666600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:177661800-177667600	Enhancers	Liver	Liver
10	chr5:177661800-177669800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:177662200-177674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:177662600-177667600	Weak transcription	Dnd41	blood
13	chr5:177662600-177669600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:177663200-177667600	Enhancers	Left Ventricle	heart
15	chr5:177663400-177666800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:177663400-177666800	Enhancers	Right Atrium	heart
17	chr5:177663400-177667800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:177663400-177668400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:177663400-177669200	Enhancers	Colonic Mucosa	Colon
20	chr5:177663600-177666600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:177663600-177667200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:177663600-177667200	Enhancers	HMEC	breast
23	chr5:177663600-177668400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:177663600-177669000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:177663800-177666600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:177663800-177666600	Enhancers	NHEK	skin
27	chr5:177663800-177667000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:177663800-177667600	Enhancers	Fetal Thymus	thymus
29	chr5:177663800-177667800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:177664000-177666600	Enhancers	Psoas Muscle	Psoas
31	chr5:177664000-177667600	Enhancers	Right Ventricle	heart
32	chr5:177664000-177667800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:177664000-177668600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:177664000-177669800	Enhancers	Placenta	Placenta
35	chr5:177664200-177667600	Enhancers	Primary B cells from peripheral blood	blood
36	chr5:177664200-177668400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:177664200-177669600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:177664200-177669800	Enhancers	Lung	lung
39	chr5:177664400-177666800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:177664400-177668400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:177664600-177666600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:177664600-177668000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr5:177664600-177668400	Weak transcription	Fetal Lung	lung
44	chr5:177664800-177666600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:177665000-177667600	Enhancers	Primary B cells from cord blood	blood
46	chr5:177665200-177666800	Weak transcription	HSMM	muscle
47	chr5:177665200-177669000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:177665400-177666600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:177665600-177666600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr5:177665600-177667200	Weak transcription	Fetal Stomach	stomach

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