Variant report

Variant	esv3428907
Chromosome Location	chr5:179327486-179330573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179295070..179296912-chr5:179329695..179331816,2	K562	blood:
2	chr5:179245247..179250021-chr5:179326572..179331587,6	MCF-7	breast:
3	chr5:179316929..179318993-chr5:179328007..179332338,4	MCF-7	breast:
4	chr5:179306050..179307692-chr5:179326715..179328718,2	K562	blood:
5	chr5:179298893..179300467-chr5:179326041..179327754,2	K562	blood:
6	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
7	chr5:179298967..179301452-chr5:179325890..179327754,2	K562	blood:
8	chr5:179330011..179331710-chr5:179335227..179337896,2	K562	blood:
9	chr5:179327650..179329496-chr5:179338121..179340094,2	MCF-7	breast:
10	chr5:179259349..179261081-chr5:179327566..179330234,2	K562	blood:
11	chr5:179319639..179323862-chr5:179326740..179329918,5	K562	blood:
12	chr5:179259349..179261777-chr5:179328734..179330871,2	K562	blood:
13	chr5:179326431..179329959-chr5:179330683..179337717,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161011	chromatin interactions
ENSG00000197226	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185408909	chr5:179327490-179327491	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs32458	chr5:179327513-179327514	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
3	rs551667602	chr5:179327547-179327548	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs32459	chr5:179327582-179327583	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531106550	chr5:179327590-179327591	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549339239	chr5:179327596-179327597	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs147218045	chr5:179327607-179327608	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138830868	chr5:179327631-179327632	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547039983	chr5:179327638-179327639	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189725720	chr5:179327645-179327646	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371451165	chr5:179327657-179327658	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142783209	chr5:179327689-179327690	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569205460	chr5:179327718-179327719	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536534572	chr5:179327727-179327728	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375952967	chr5:179327740-179327741	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182247114	chr5:179327741-179327742	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572965794	chr5:179327750-179327751	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs32460	chr5:179327751-179327752	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574859962	chr5:179327753-179327754	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558583386	chr5:179327758-179327759	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147487141	chr5:179327759-179327760	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139322157	chr5:179327772-179327773	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560585282	chr5:179327823-179327824	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs77288186	chr5:179327826-179327827	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs32461	chr5:179327827-179327828	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543268538	chr5:179327835-179327836	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188013130	chr5:179327843-179327844	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528637820	chr5:179327873-179327874	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568361463	chr5:179327878-179327879	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534035673	chr5:179327901-179327902	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546787641	chr5:179327967-179327968	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190990277	chr5:179327969-179327970	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532630723	chr5:179327985-179327986	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs114820861	chr5:179327986-179327987	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569242038	chr5:179328076-179328077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536177864	chr5:179328098-179328099	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111575105	chr5:179328109-179328110	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150005820	chr5:179328111-179328112	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369153359	chr5:179328132-179328133	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534035491	chr5:179328142-179328143	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs183707239	chr5:179328153-179328154	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576555357	chr5:179328159-179328160	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs74596351	chr5:179328168-179328169	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555752507	chr5:179328182-179328183	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188177387	chr5:179328187-179328188	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148716470	chr5:179328191-179328192	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532751363	chr5:179328216-179328217	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs32462	chr5:179328228-179328229	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs201443664	chr5:179328237-179328238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs71613433	chr5:179328257-179328258	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179289600-179328000	Strong transcription	Adipose Nuclei	Adipose
3	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:179310400-179332000	Strong transcription	Fetal Intestine Large	intestine
5	chr5:179310800-179331400	Strong transcription	Primary T cells from cord blood	blood
6	chr5:179311000-179328200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr5:179311000-179332000	Strong transcription	Stomach Smooth Muscle	stomach
8	chr5:179311000-179332600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:179311200-179328200	Strong transcription	Osteobl	bone
10	chr5:179311200-179332000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:179311200-179332000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:179311400-179332000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr5:179311400-179332400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:179311600-179332000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:179311600-179332000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:179311600-179332200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:179311600-179332200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:179311800-179332000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:179311800-179332200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:179312000-179327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:179312000-179329400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:179312000-179331800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:179312000-179332000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:179312000-179332000	Strong transcription	Fetal Brain Female	brain
26	chr5:179312000-179332400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:179312000-179333000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:179312000-179333400	Weak transcription	Fetal Brain Male	brain
29	chr5:179312200-179329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:179312200-179332400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:179312200-179333200	Strong transcription	Placenta	Placenta
32	chr5:179312400-179329200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:179312800-179331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:179312800-179333400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:179313000-179332400	Strong transcription	Fetal Intestine Small	intestine
36	chr5:179313000-179333000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:179313200-179333200	Strong transcription	Fetal Stomach	stomach
38	chr5:179313400-179329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:179313600-179331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:179313600-179333400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:179313800-179327600	Strong transcription	A549	lung
42	chr5:179313800-179332200	Strong transcription	Dnd41	blood
43	chr5:179313800-179333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:179314000-179332000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr5:179315400-179333200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:179315600-179327800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:179317200-179327600	Strong transcription	GM12878-XiMat	blood
48	chr5:179317200-179331800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:179318400-179331800	Strong transcription	Lung	lung
50	chr5:179320400-179333600	Weak transcription	Stomach Mucosa	stomach

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