Variant report

Variant	rs7000568
Chromosome Location	chr8:96117240-96117241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96115025..96117970-chr8:96278759..96280968,3	MCF-7	breast:
2	chr8:96114692..96118585-chr8:96123504..96126472,3	K562	blood:
3	chr8:96115681..96118116-chr8:96145080..96147666,2	MCF-7	breast:
4	chr8:96115764..96119732-chr8:96143406..96147145,3	K562	blood:
5	chr8:96103809..96105696-chr8:96115695..96118542,2	K562	blood:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10102994	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808672	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11781181	1.00[CEU][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1466169	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1561714	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1561715	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs172469	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1975425	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2044034	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2583365	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2599726	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2678841	0.84[CEU][hapmap]
rs297550	0.89[CEU][hapmap]
rs297557	0.84[AMR][1000 genomes]
rs4392868	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4735344	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735345	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4735347	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4735350	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56617377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6471516	0.84[CEU][hapmap]
rs6983365	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6987741	0.95[EUR][1000 genomes]
rs7000734	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7002233	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs732280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822998	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7836804	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7845016	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96113800-96122400	Weak transcription	Gastric	stomach
2	chr8:96113800-96122400	Weak transcription	Pancreas	Pancrea
3	chr8:96113800-96127800	Weak transcription	Right Ventricle	heart
4	chr8:96115400-96118200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:96115600-96122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:96115600-96122600	Weak transcription	Osteobl	bone
7	chr8:96115800-96123200	Weak transcription	K562	blood
8	chr8:96116200-96121800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:96116400-96117800	Enhancers	Brain Substantia Nigra	brain
10	chr8:96116600-96117600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:96116800-96117400	Enhancers	Brain Angular Gyrus	brain
12	chr8:96117000-96117600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:96117000-96117800	Active TSS	Brain Cingulate Gyrus	brain
14	chr8:96117200-96117600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:96117200-96118000	Enhancers	Brain Hippocampus Middle	brain

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