Variant report

Variant	rs7006807
Chromosome Location	chr8:130432856-130432857
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130432582..130435209-chr8:130544896..130547721,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12678134	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250954	0.94[CEU][hapmap];0.89[TSI][hapmap]
rs2568406	0.89[CEU][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap]
rs2568409	1.00[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2568411	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2568414	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2579861	0.90[MEX][hapmap];0.89[TSI][hapmap]
rs2579868	0.96[EUR][1000 genomes]
rs2719207	0.94[CEU][hapmap]
rs2719209	0.98[EUR][1000 genomes]
rs7017294	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827080	0.82[YRI][hapmap]
rs7827184	0.91[MEX][hapmap];0.82[YRI][hapmap]

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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130427000-130449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130429400-130437600	Enhancers	Dnd41	blood
4	chr8:130429800-130434200	Weak transcription	Thymus	Thymus
5	chr8:130430200-130435600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:130431200-130433000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:130431200-130436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:130431600-130435800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:130432200-130433400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:130432400-130433000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:130432400-130433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:130432400-130433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:130432600-130433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:130432600-130433400	Enhancers	HUVEC	blood vessel
15	chr8:130432800-130433200	Enhancers	Adipose Nuclei	Adipose
16	chr8:130432800-130433200	Enhancers	GM12878-XiMat	blood
17	chr8:130432800-130433200	Transcr. at gene 5' and 3'	K562	blood
18	chr8:130432800-130433400	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:130432800-130433400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr8:130432800-130433600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:130432800-130433600	Enhancers	Fetal Heart	heart
22	chr8:130432800-130436600	Enhancers	Fetal Thymus	thymus

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