Variant report

Variant	rs16917426
Chromosome Location	chr8:96247835-96247836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96239351..96241151-chr8:96247805..96249381,2	MCF-7	breast:
2	chr8:96247598..96249978-chr8:96254089..96255776,2	K562	blood:
3	chr8:96239240..96241215-chr8:96244914..96248459,3	K562	blood:
4	chr8:96039022..96041365-chr8:96246280..96249199,2	K562	blood:
5	chr8:96214177..96216026-chr8:96245562..96248226,2	MCF-7	breast:
6	chr8:96241648..96244611-chr8:96247721..96251221,3	K562	blood:
7	chr8:96229389..96231464-chr8:96247771..96249721,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1027267	1.00[ASN][1000 genomes]
rs1441397	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34383415	1.00[ASN][1000 genomes]
rs55739300	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62522658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522861	1.00[ASN][1000 genomes]
rs62524389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524398	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524402	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524408	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
3	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:96244000-96250000	Weak transcription	Spleen	Spleen
7	chr8:96244200-96248200	Weak transcription	GM12878-XiMat	blood
8	chr8:96244200-96250200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:96245200-96248600	Weak transcription	Gastric	stomach
10	chr8:96245200-96254600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
13	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
14	chr8:96246000-96248000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:96246800-96248000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:96246800-96248400	Enhancers	HepG2	liver
17	chr8:96247000-96249000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:96247400-96249000	Enhancers	Fetal Intestine Large	intestine
19	chr8:96247600-96248600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:96247800-96248600	Enhancers	Monocytes-CD14+_RO01746	blood

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