Variant report

Variant	esv3512944
Chromosome Location	chr5:179744465-179744787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179744373..179746691-chr5:179749778..179751950,2	K562	blood:
2	chr5:179717535..179723990-chr5:179738269..179745292,15	MCF-7	breast:
3	chr5:179744163..179746642-chr5:179892937..179895669,2	MCF-7	breast:
4	chr5:179743629..179745523-chr5:179753603..179755727,2	K562	blood:
5	chr5:179719250..179721659-chr5:179743726..179746072,2	MCF-7	breast:
6	chr5:179743533..179745138-chr5:179758966..179761002,2	K562	blood:
7	chr5:179743201..179745094-chr5:179754638..179756187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050748	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000131459	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577783714	chr5:179744478-179744479	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs529236233	chr5:179744487-179744488	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs7719192	chr5:179744488-179744489	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187618382	chr5:179744499-179744500	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs556815218	chr5:179744503-179744504	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs538642959	chr5:179744510-179744511	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs139612793	chr5:179744525-179744526	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs149727217	chr5:179744529-179744530	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs559706231	chr5:179744531-179744532	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573207028	chr5:179744534-179744535	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs545503943	chr5:179744535-179744536	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565300344	chr5:179744543-179744544	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs112824817	chr5:179744544-179744545	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs544868895	chr5:179744545-179744546	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs144561132	chr5:179744555-179744556	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370533923	chr5:179744558-179744559	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs548655968	chr5:179744561-179744562	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs112178315	chr5:179744566-179744567	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs367953703	chr5:179744573-179744574	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs372162193	chr5:179744576-179744577	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs548995476	chr5:179744586-179744587	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550377376	chr5:179744587-179744588	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536843685	chr5:179744588-179744589	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs556778333	chr5:179744591-179744592	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567181521	chr5:179744596-179744597	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs377027791	chr5:179744618-179744619	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369648917	chr5:179744622-179744623	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs553060606	chr5:179744627-179744628	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs573203548	chr5:179744628-179744629	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs545104625	chr5:179744639-179744640	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs567370852	chr5:179744651-179744652	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs530215734	chr5:179744708-179744709	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs4700939	chr5:179744714-179744715	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs575850446	chr5:179744715-179744716	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs4700940	chr5:179744721-179744722	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs561471548	chr5:179744723-179744724	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs4700941	chr5:179744746-179744747	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs11356791	chr5:179744759-179744760	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs530390022	chr5:179744771-179744772	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
2	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179720800-179747000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:179726800-179750600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:179727000-179755800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:179727200-179757400	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr5:179727200-179757400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:179727400-179757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:179727600-179757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:179728600-179761400	Weak transcription	Aorta	Aorta
11	chr5:179728800-179750800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:179730800-179750800	Weak transcription	HSMMtube	muscle
13	chr5:179731600-179755600	Weak transcription	Fetal Brain Female	brain
14	chr5:179732200-179750800	Weak transcription	Brain Substantia Nigra	brain
15	chr5:179732800-179751200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:179733600-179744800	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:179736800-179751800	Weak transcription	Left Ventricle	heart
18	chr5:179737400-179750000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:179737600-179746200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:179737600-179750800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:179738000-179758000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:179738200-179746200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:179738200-179755600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:179738600-179745200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:179738800-179748600	Weak transcription	Lung	lung
26	chr5:179739600-179761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:179740000-179744800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:179740400-179757400	Weak transcription	NHLF	lung
29	chr5:179740600-179757600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr5:179741000-179750600	Strong transcription	Osteobl	bone
31	chr5:179741200-179746200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:179741200-179750400	Weak transcription	Esophagus	oesophagus
33	chr5:179741200-179754000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:179741400-179746800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr5:179741400-179746800	Strong transcription	Fetal Stomach	stomach
36	chr5:179741400-179751000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:179741600-179745000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:179741600-179750400	Weak transcription	Brain Germinal Matrix	brain
39	chr5:179741600-179756000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:179741600-179757600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:179741600-179762600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:179741800-179748600	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:179741800-179758200	Weak transcription	Fetal Intestine Small	intestine
44	chr5:179742000-179757400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:179742600-179757800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:179742800-179746000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:179742800-179746000	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:179743200-179745800	Strong transcription	Brain Anterior Caudate	brain
49	chr5:179743200-179746000	Strong transcription	Brain Angular Gyrus	brain
50	chr5:179743200-179746000	Strong transcription	Brain Inferior Temporal Lobe	brain

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