Variant report

Variant	rs55686280
Chromosome Location	chr8:8947092-8947093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8946560..8948747-chr8:8951102..8952679,2	K562	blood:
2	chr8:8940339..8943517-chr8:8945394..8948059,3	K562	blood:
3	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
4	chr8:8934965..8937761-chr8:8946475..8949446,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10093648	1.00[ASN][1000 genomes]
rs10503389	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274593	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17646349	1.00[ASN][1000 genomes]
rs17646897	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17703328	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703572	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703591	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34277204	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34443356	1.00[ASN][1000 genomes]
rs34762233	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34968542	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35973329	1.00[ASN][1000 genomes]
rs36022127	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601283	0.87[ASN][1000 genomes]
rs6983411	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6985627	0.87[ASN][1000 genomes]
rs6986226	0.87[ASN][1000 genomes]
rs6990455	0.87[ASN][1000 genomes]
rs6992247	0.87[ASN][1000 genomes]
rs7000799	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7007456	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7009724	0.87[ASN][1000 genomes]
rs7011476	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018100	0.87[ASN][1000 genomes]
rs9650617	1.00[ASN][1000 genomes]
rs9657508	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv518456	chr8:8939125-8948469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
2	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8940000-8950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:8940400-8951600	Weak transcription	Fetal Heart	heart
6	chr8:8945200-8947200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:8945200-8947400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:8945200-8947400	Enhancers	Placenta	Placenta
9	chr8:8946200-8952000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:8946400-8947200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr8:8946400-8947200	Enhancers	Spleen	Spleen
12	chr8:8946400-8947400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:8946400-8947400	Weak transcription	Thymus	Thymus
14	chr8:8946400-8947800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:8946400-8951600	Weak transcription	A549	lung
16	chr8:8946400-8953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:8946600-8947200	Enhancers	NHEK	skin
18	chr8:8946600-8947600	Weak transcription	Adipose Nuclei	Adipose
19	chr8:8946600-8948000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:8946600-8951600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:8946600-8951800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:8946600-8953400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:8946600-8953400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:8946800-8947200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:8946800-8947200	Weak transcription	Primary B cells from cord blood	blood
26	chr8:8946800-8947200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:8946800-8947200	Enhancers	GM12878-XiMat	blood
28	chr8:8946800-8947400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:8946800-8951800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:8947000-8947200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:8947000-8948200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:8947000-8949800	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links