Variant report

Variant	rs56617377
Chromosome Location	chr8:96115862-96115863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

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	chr8:96113223..96116394-chr8:96203733..96206616,4	MCF-7	breast:
4	chr8:96115681..96118116-chr8:96145080..96147666,2	MCF-7	breast:
5	chr8:96115764..96119732-chr8:96143406..96147145,3	K562	blood:
6	chr8:95907523..95909755-chr8:96112942..96116370,3	MCF-7	breast:
7	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
8	chr8:96103809..96105696-chr8:96115695..96118542,2	K562	blood:
9	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
10	chr8:95959569..95962323-chr8:96114600..96116537,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1466169	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1561714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1561715	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[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2044034	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2583365	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2599726	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs297557	0.84[AMR][1000 genomes]
rs4392868	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4735344	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]
rs6983365	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6987741	0.95[EUR][1000 genomes]
rs7000568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000734	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	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	0.83[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:16 , 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	chr8:96114000-96116800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:96115200-96116800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:96115400-96116200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:96115400-96116200	Enhancers	NHEK	skin
8	chr8:96115400-96118200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:96115600-96116000	Weak transcription	Stomach Mucosa	stomach
10	chr8:96115600-96122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:96115600-96122600	Weak transcription	Osteobl	bone
12	chr8:96115800-96116000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:96115800-96116000	Enhancers	Brain Cingulate Gyrus	brain
14	chr8:96115800-96116200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:96115800-96117200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:96115800-96123200	Weak transcription	K562	blood

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