Variant report

Variant	rs55647033
Chromosome Location	chr14:72004708-72004709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71998902..72001502-chr14:72003507..72006121,3	K562	blood:
2	chr14:72000187..72002970-chr14:72003263..72006662,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55843519	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55893880	1.00[AMR][1000 genomes]
rs56135446	1.00[AMR][1000 genomes]
rs56335120	1.00[AMR][1000 genomes]
rs56861516	1.00[AMR][1000 genomes]
rs57476769	1.00[AMR][1000 genomes]
rs58376035	1.00[AMR][1000 genomes]
rs58529740	1.00[AMR][1000 genomes]
rs59405734	1.00[AMR][1000 genomes]
rs60239886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60600157	1.00[AMR][1000 genomes]
rs74060369	1.00[AMR][1000 genomes]
rs74060373	1.00[AMR][1000 genomes]
rs74060376	1.00[AMR][1000 genomes]
rs74060385	1.00[AMR][1000 genomes]
rs74060386	1.00[AMR][1000 genomes]
rs74060387	1.00[AMR][1000 genomes]
rs74060390	1.00[AMR][1000 genomes]
rs74060391	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71972600-72006400	Weak transcription	Fetal Thymus	thymus
2	chr14:71976800-72008400	Weak transcription	Thymus	Thymus
3	chr14:71978400-72009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:71978400-72014800	Weak transcription	HMEC	breast
5	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
6	chr14:71981400-72021400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:71981600-72008400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:71988600-72005800	Weak transcription	Small Intestine	intestine
9	chr14:71995800-72005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:71995800-72006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:71995800-72006400	Weak transcription	Spleen	Spleen
12	chr14:71995800-72006600	Weak transcription	Gastric	stomach
13	chr14:71996800-72006600	Weak transcription	Esophagus	oesophagus
14	chr14:71996800-72006600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:71996800-72006600	Weak transcription	Lung	lung
16	chr14:71996800-72006600	Weak transcription	Pancreas	Pancrea
17	chr14:71997000-72009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:71997200-72005600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:71997200-72005800	Weak transcription	Aorta	Aorta
20	chr14:71997200-72005800	Weak transcription	Left Ventricle	heart
21	chr14:71997200-72006400	Weak transcription	Right Atrium	heart
22	chr14:71997400-72005800	Weak transcription	Adipose Nuclei	Adipose
23	chr14:71997400-72006400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:71997400-72008400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:71997800-72005600	Weak transcription	Primary T cells from cord blood	blood
26	chr14:71997800-72017600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:71998000-72005800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:71998000-72006000	Weak transcription	Primary B cells from cord blood	blood
29	chr14:71998200-72005600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:71998400-72008600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:71998600-72005400	Weak transcription	Dnd41	blood
32	chr14:71998600-72006400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:71998800-72005800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:71999400-72005800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:71999400-72006000	Weak transcription	Fetal Brain Female	brain
36	chr14:72000000-72005800	Weak transcription	Fetal Brain Male	brain
37	chr14:72000200-72005000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:72000400-72005800	Weak transcription	Psoas Muscle	Psoas
39	chr14:72000400-72006200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:72000400-72006600	Weak transcription	GM12878-XiMat	blood
41	chr14:72000400-72006600	Weak transcription	NH-A	brain
42	chr14:72001400-72009800	Enhancers	Fetal Heart	heart
43	chr14:72002200-72006400	Enhancers	Osteobl	bone
44	chr14:72002400-72004800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:72002400-72009200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:72002600-72007600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:72002800-72004800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:72002800-72004800	Enhancers	Liver	Liver
49	chr14:72002800-72008600	Enhancers	Fetal Stomach	stomach
50	chr14:72003000-72017800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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