Variant report

Variant	rs4278157
Chromosome Location	chr8:48739305-48739306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48736626..48739950-chr8:48740537..48745095,4	K562	blood:
2	chr8:48737619..48739981-chr8:48769032..48770678,2	K562	blood:
3	chr8:48730935..48735582-chr8:48738705..48743667,5	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11996817	0.85[AMR][1000 genomes]
rs1231202	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1231204	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13263305	0.85[AMR][1000 genomes]
rs13263308	0.85[AMR][1000 genomes]
rs2466760	0.93[EUR][1000 genomes]
rs2632496	0.87[CEU][hapmap]
rs2632502	0.82[EUR][1000 genomes]
rs2725277	0.82[EUR][1000 genomes]
rs2725281	0.82[CEU][hapmap]
rs4873265	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4873774	0.85[AMR][1000 genomes]
rs4873777	0.85[AMR][1000 genomes]
rs6473979	0.85[AMR][1000 genomes]
rs7845046	0.87[CEU][hapmap];0.93[AMR][1000 genomes]
rs8178108	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9298499	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:48684400-48861600	Strong transcription	Dnd41	blood
4	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
5	chr8:48693800-48751000	Weak transcription	Right Atrium	heart
6	chr8:48700000-48758800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr8:48703000-48761800	Weak transcription	Stomach Mucosa	stomach
8	chr8:48704800-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:48711200-48741400	Weak transcription	Fetal Heart	heart
10	chr8:48711400-48740200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:48722200-48778600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:48724800-48755800	Strong transcription	Hela-S3	cervix
15	chr8:48726000-48744800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:48726000-48756800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr8:48726000-48778800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:48726200-48747200	Strong transcription	Liver	Liver
19	chr8:48726200-48755800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:48726200-48756400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr8:48726200-48760800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:48726400-48759800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:48726400-48783200	Strong transcription	GM12878-XiMat	blood
25	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:48727400-48741600	Strong transcription	Fetal Stomach	stomach
27	chr8:48727400-48777600	Strong transcription	Primary T cells from cord blood	blood
28	chr8:48727600-48756000	Strong transcription	NH-A	brain
29	chr8:48727600-48758600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:48727800-48757600	Strong transcription	K562	blood
31	chr8:48728000-48757400	Strong transcription	Osteobl	bone
32	chr8:48728800-48741000	Strong transcription	HSMMtube	muscle
33	chr8:48729000-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:48729000-48759400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:48729000-48760200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:48729800-48743000	Weak transcription	Psoas Muscle	Psoas
37	chr8:48730000-48742800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:48730000-48743600	Strong transcription	Fetal Intestine Large	intestine
39	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:48730200-48741600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:48731200-48756000	Strong transcription	Fetal Muscle Leg	muscle
42	chr8:48731200-48757200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:48731400-48750000	Strong transcription	Fetal Brain Female	brain
44	chr8:48731600-48750000	Strong transcription	Primary B cells from cord blood	blood
45	chr8:48733000-48740000	Weak transcription	Brain Substantia Nigra	brain
46	chr8:48733400-48739600	Genic enhancers	H1 Cell Line	embryonic stem cell
47	chr8:48733400-48759000	Strong transcription	HepG2	liver
48	chr8:48733800-48740600	Strong transcription	Brain Hippocampus Middle	brain
49	chr8:48734000-48750000	Strong transcription	Fetal Lung	lung
50	chr8:48734200-48739800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell

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