Variant report

Variant	esv3419935
Chromosome Location	chr5:179599346-179603744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179598097..179600752-chr5:179603179..179605823,2	K562	blood:
2	chr5:179601654..179603372-chr5:179739320..179741770,2	MCF-7	breast:
3	chr5:179598082..179600622-chr5:179601152..179603406,2	K562	blood:
4	chr5:179603344..179605727-chr5:179894143..179896109,2	K562	blood:
5	chr5:179598082..179600622-chr5:179601152..179603406,2	K562	blood:
6	chr5:179594862..179596612-chr5:179598475..179600165,2	MCF-7	breast:
7	chr5:179598097..179600752-chr5:179603179..179605823,2	K562	blood:

Extended variants
information (count: 326 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114001427	chr5:179599363-179599364	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs114736750	chr5:179599372-179599373	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs534478177	chr5:179599386-179599387	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs552687594	chr5:179599417-179599418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs577644771	chr5:179599438-179599439	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs545038193	chr5:179599442-179599443	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs145850385	chr5:179599510-179599511	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs376184434	chr5:179599535-179599536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs148984554	chr5:179599536-179599537	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs544131405	chr5:179599573-179599574	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs562341775	chr5:179599612-179599613	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs370200596	chr5:179599617-179599618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs529545531	chr5:179599624-179599625	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs183240992	chr5:179599658-179599659	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs529174408	chr5:179599692-179599693	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs80095710	chr5:179599764-179599765	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs538163624	chr5:179599783-179599784	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs533256410	chr5:179599830-179599831	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs79319004	chr5:179599843-179599844	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs569951526	chr5:179599878-179599879	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs111571685	chr5:179599929-179599930	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs548882472	chr5:179599931-179599932	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs187562937	chr5:179599956-179599957	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs375079957	chr5:179599976-179599977	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs114641096	chr5:179600031-179600032	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs374354578	chr5:179600060-179600061	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs552748745	chr5:179600161-179600162	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs143740592	chr5:179600169-179600170	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs190561535	chr5:179600202-179600203	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs556971158	chr5:179600222-179600223	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs59412869	chr5:179600227-179600228	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182135569	chr5:179600250-179600251	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs111813703	chr5:179600253-179600254	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs556289955	chr5:179600281-179600282	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs540368737	chr5:179600283-179600284	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs536688956	chr5:179600298-179600299	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs550535808	chr5:179600306-179600307	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs556122830	chr5:179600343-179600344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs183311509	chr5:179600354-179600355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs554282914	chr5:179600359-179600360	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs187848720	chr5:179600370-179600371	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs4700719	chr5:179600378-179600379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533519647	chr5:179600411-179600412	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs35880490	chr5:179600413-179600414	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs545190665	chr5:179600472-179600473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs114279480	chr5:179600537-179600538	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs530849324	chr5:179600554-179600555	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs548946318	chr5:179600587-179600588	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs565089360	chr5:179600636-179600637	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs560898516	chr5:179600637-179600638	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179595800-179600000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179596400-179602200	Enhancers	Fetal Brain Male	brain
3	chr5:179596800-179600200	Enhancers	Fetal Heart	heart
4	chr5:179596800-179602400	Enhancers	Placenta	Placenta
5	chr5:179596800-179604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:179597000-179601600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:179597200-179600000	Enhancers	Right Ventricle	heart
8	chr5:179597200-179601800	Enhancers	Brain Angular Gyrus	brain
9	chr5:179597200-179602800	Weak transcription	Right Atrium	heart
10	chr5:179597400-179602000	Enhancers	Brain Substantia Nigra	brain
11	chr5:179597400-179607600	Weak transcription	Gastric	stomach
12	chr5:179597400-179608800	Enhancers	Fetal Muscle Leg	muscle
13	chr5:179597600-179599400	Weak transcription	Fetal Brain Female	brain
14	chr5:179597600-179599400	Weak transcription	Fetal Lung	lung
15	chr5:179597600-179600000	Enhancers	Brain Germinal Matrix	brain
16	chr5:179597600-179602000	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:179597600-179604000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr5:179597800-179599400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:179597800-179601800	Enhancers	Brain Anterior Caudate	brain
20	chr5:179597800-179601800	Enhancers	Brain Hippocampus Middle	brain
21	chr5:179597800-179604000	Weak transcription	Ovary	ovary
22	chr5:179597800-179605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:179598400-179599400	Enhancers	Esophagus	oesophagus
24	chr5:179598400-179599600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:179598600-179600000	Enhancers	Left Ventricle	heart
26	chr5:179598600-179602200	Enhancers	Fetal Stomach	stomach
27	chr5:179598800-179602400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:179599000-179601600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:179599200-179599400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr5:179599200-179599800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:179599200-179599800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:179599200-179599800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr5:179599200-179599800	Enhancers	Spleen	Spleen
34	chr5:179599200-179600000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr5:179599200-179601600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:179599400-179599600	Bivalent Enhancer	HepG2	liver
37	chr5:179599400-179599800	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr5:179599400-179599800	Enhancers	Colon Smooth Muscle	Colon
39	chr5:179599400-179599800	Enhancers	Fetal Brain Female	brain
40	chr5:179599400-179599800	Enhancers	Fetal Lung	lung
41	chr5:179599400-179600000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr5:179599400-179601000	Weak transcription	Esophagus	oesophagus
43	chr5:179599400-179602200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:179599600-179599800	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr5:179599600-179600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:179599600-179600200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr5:179599800-179600000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:179599800-179600000	Enhancers	Fetal Intestine Small	intestine
49	chr5:179599800-179600000	Enhancers	Pancreas	Pancrea
50	chr5:179599800-179600000	Flanking Active TSS	Spleen	Spleen

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