Variant report

Variant	rs17618704
Chromosome Location	chr17:46221010-46221011
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46123280..46126175-chr17:46219301..46222487,3	K562	blood:

Variant related genes	Relation type
ENSG00000263412	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10491182	1.00[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs10491183	1.00[CEU][hapmap];0.81[GIH][hapmap];0.81[TSI][hapmap]
rs1051001	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11650043	1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap]
rs11650182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11650304	1.00[AFR][1000 genomes]
rs11651275	1.00[CEU][hapmap]
rs16969990	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs17617360	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs17679445	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs41429650	1.00[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs4378657	0.81[GIH][hapmap];1.00[MEX][hapmap]
rs7209072	1.00[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs7210041	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs8078142	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895554	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs9900074	1.00[CEU][hapmap]
rs9903963	1.00[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17618704	SKAP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46204200-46225200	Weak transcription	Liver	Liver
3	chr17:46210000-46224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:46211200-46231600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:46215400-46225400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr17:46217600-46221600	Strong transcription	Fetal Thymus	thymus
10	chr17:46218000-46224200	Weak transcription	Primary B cells from cord blood	blood
11	chr17:46218200-46221800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:46218200-46224800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:46220000-46221800	Enhancers	GM12878-XiMat	blood
14	chr17:46220000-46222000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:46220200-46222000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:46220600-46225600	Strong transcription	Primary T cells from cord blood	blood
17	chr17:46220800-46221200	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr17:46220800-46221400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:46220800-46221600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:46220800-46227200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr17:46220800-46228400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:46221000-46221200	Bivalent Enhancer	Fetal Brain Male	brain
24	chr17:46221000-46221400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr17:46221000-46221400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:46221000-46221600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr17:46221000-46221600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr17:46221000-46221600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr17:46221000-46221600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:46221000-46221600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:46221000-46221600	Strong transcription	Thymus	Thymus

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