Variant report

Variant	rs5001348
Chromosome Location	chr8:124251173-124251174
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124250772..124255194-chr8:124284813..124288648,11	K562	blood:
2	chr8:124242969..124246444-chr8:124250871..124254572,7	K562	blood:
3	chr8:124250772..124256316-chr8:124284832..124288905,10	K562	blood:
4	chr8:124249453..124251289-chr8:124407810..124410458,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189376	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10089968	0.83[AMR][1000 genomes]
rs10103175	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs10104148	1.00[AMR][1000 genomes]
rs11985857	0.81[AFR][1000 genomes]
rs11989904	1.00[AMR][1000 genomes]
rs11991144	1.00[MEX][hapmap]
rs11991436	1.00[MEX][hapmap]
rs11992098	1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AFR][1000 genomes]
rs11996182	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11997908	0.83[AMR][1000 genomes]
rs16897940	1.00[MEX][hapmap]
rs16898127	1.00[MEX][hapmap]
rs16898144	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16898172	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16898257	0.83[AMR][1000 genomes]
rs16898261	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs1869248	1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs28461952	0.83[AMR][1000 genomes]
rs6987701	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6990003	1.00[AMR][1000 genomes]
rs7003464	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7007690	0.83[AMR][1000 genomes]
rs7009541	1.00[AMR][1000 genomes]
rs900629	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 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	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:124229000-124252200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:124229200-124251400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:124229400-124251200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:124229400-124252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:124230200-124251200	Weak transcription	Stomach Mucosa	stomach
7	chr8:124233600-124251200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:124234400-124251200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:124234600-124252400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:124235200-124252400	Weak transcription	Psoas Muscle	Psoas
11	chr8:124236600-124251200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124236600-124251200	Strong transcription	K562	blood
13	chr8:124237600-124251400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:124238800-124251400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:124239400-124251600	Strong transcription	Fetal Thymus	thymus
16	chr8:124239800-124251200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:124242000-124252400	Weak transcription	Fetal Kidney	kidney
18	chr8:124243400-124251200	Strong transcription	HepG2	liver
19	chr8:124243400-124251400	Strong transcription	A549	lung
20	chr8:124243800-124251400	Strong transcription	Liver	Liver
21	chr8:124243800-124251800	Weak transcription	Colonic Mucosa	Colon
22	chr8:124245400-124251200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:124246400-124251400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:124246400-124251600	Strong transcription	NHEK	skin
25	chr8:124246800-124251400	Weak transcription	Fetal Heart	heart
26	chr8:124247400-124252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:124248000-124252400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:124248200-124251200	Weak transcription	Right Ventricle	heart
29	chr8:124248200-124251800	Strong transcription	Fetal Muscle Leg	muscle
30	chr8:124248200-124252200	Weak transcription	Right Atrium	heart
31	chr8:124248400-124251200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:124248400-124251200	Strong transcription	Fetal Lung	lung
33	chr8:124248400-124252400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:124248400-124252400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:124248600-124251200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:124248600-124251200	Weak transcription	Brain Angular Gyrus	brain
37	chr8:124248600-124251200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:124248600-124251400	Weak transcription	Fetal Brain Male	brain
39	chr8:124248600-124251400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr8:124248600-124251800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:124248600-124252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:124248600-124252200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:124248600-124252200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:124248600-124252400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:124248600-124252400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:124248600-124252400	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:124248600-124252400	Weak transcription	Brain Substantia Nigra	brain
48	chr8:124248600-124252400	Weak transcription	NH-A	brain
49	chr8:124249000-124251200	Genic enhancers	Dnd41	blood
50	chr8:124249200-124251200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links