Variant report

Variant	rs66537647
Chromosome Location	chr8:66729591-66729592
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66722101..66725454-chr8:66727046..66730688,4	K562	blood:
2	chr8:66728567..66731729-chr8:66732570..66735020,4	K562	blood:
3	chr8:66723330..66725162-chr8:66729359..66730995,2	MCF-7	breast:
4	chr8:66723223..66730456-chr8:66752067..66756637,7	K562	blood:
5	chr8:66720162..66723066-chr8:66729017..66730753,2	MCF-7	breast:
6	chr8:66728806..66730730-chr8:66734212..66736095,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10504392	0.82[ASN][1000 genomes]
rs1316700	0.86[ASN][1000 genomes]
rs58175788	0.81[AMR][1000 genomes]
rs59198392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62507653	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6472221	0.86[ASN][1000 genomes]
rs6472224	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472228	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66609388	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67813477	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984402	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72650509	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72666552	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7839014	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:66714800-66734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:66716200-66738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:66717200-66730600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:66717400-66730600	Weak transcription	A549	lung
6	chr8:66718200-66731600	Weak transcription	Stomach Mucosa	stomach
7	chr8:66719000-66730800	Weak transcription	Ovary	ovary
8	chr8:66719200-66730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:66719200-66730800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:66719200-66734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:66719400-66738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
13	chr8:66720000-66734400	Weak transcription	NHLF	lung
14	chr8:66720000-66736800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:66720400-66730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:66720400-66731200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:66720400-66734400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:66720400-66744800	Weak transcription	NHEK	skin
19	chr8:66720600-66732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:66721400-66738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:66721800-66729800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:66723600-66729800	Weak transcription	Thymus	Thymus
23	chr8:66723800-66731000	Weak transcription	Left Ventricle	heart
24	chr8:66723800-66735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:66723800-66738200	Weak transcription	Pancreas	Pancrea
26	chr8:66724000-66730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:66725200-66742000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:66725200-66747000	Weak transcription	NHDF-Ad	bronchial
29	chr8:66725400-66733200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:66725400-66742000	Weak transcription	HMEC	breast
31	chr8:66725400-66751200	Weak transcription	Fetal Heart	heart
32	chr8:66727000-66730600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:66727000-66732600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:66727200-66730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:66727200-66733000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:66727400-66730800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:66727600-66730600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:66727600-66732600	ZNF genes & repeats	GM12878-XiMat	blood
39	chr8:66727600-66737000	Weak transcription	Brain Angular Gyrus	brain
40	chr8:66727800-66729800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:66727800-66736600	Weak transcription	HSMM	muscle
42	chr8:66728000-66732600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:66728600-66730200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr8:66728600-66730600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr8:66728600-66730800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:66728600-66733000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr8:66728800-66729600	Strong transcription	Dnd41	blood
48	chr8:66728800-66730200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr8:66728800-66731000	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr8:66728800-66731200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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