Variant report

Variant	rs7016642
Chromosome Location	chr8:105585409-105585410
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	chr8:105583196..105585939-chr8:105600741..105602751,2	K562	blood:
2	chr8:105583573..105585685-chr8:105598077..105599877,2	K562	blood:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10505060	0.85[AMR][1000 genomes]
rs16871526	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	0.83[AMR][1000 genomes]
rs16871583	0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs4623378	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57833872	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59281154	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59552566	0.83[AMR][1000 genomes]
rs61129183	0.83[AMR][1000 genomes]
rs6468937	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295108	0.83[AMR][1000 genomes]
rs73295119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295122	0.83[AMR][1000 genomes]
rs73295133	0.83[AMR][1000 genomes]
rs73295137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295149	0.85[AMR][1000 genomes]
rs73297124	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7812405	0.83[AMR][1000 genomes]
rs7813553	0.83[AMR][1000 genomes]
rs7813587	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813945	1.00[EUR][1000 genomes]
rs7815209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833483	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7837425	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838928	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105566200-105587200	Weak transcription	Left Ventricle	heart
2	chr8:105579800-105587600	Weak transcription	Fetal Heart	heart
3	chr8:105580400-105586200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105580600-105585600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:105581600-105590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:105581600-105593000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:105581600-105598600	Weak transcription	Osteobl	bone
8	chr8:105583200-105585800	ZNF genes & repeats	Dnd41	blood
9	chr8:105583600-105585800	ZNF genes & repeats	K562	blood
10	chr8:105584200-105587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:105584200-105587200	Weak transcription	Fetal Thymus	thymus
12	chr8:105584200-105587200	Weak transcription	Psoas Muscle	Psoas
13	chr8:105584200-105587200	Weak transcription	Thymus	Thymus
14	chr8:105584200-105588000	Weak transcription	Ovary	ovary
15	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
16	chr8:105584600-105587200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:105584600-105587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:105584600-105598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:105585400-105585600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:105585400-105585800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:105585400-105586000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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