Variant report

Variant	rs11650451
Chromosome Location	chr17:45809822-45809823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:45809720-45809870	BE2_C	brain:	n/a	n/a
2	CTCF	chr17:45809680-45809830	GM12874	blood:	n/a	n/a
3	MXI1	chr17:45809634-45811557	SK-N-SH	brain:	n/a	chr17:45811453-45811468
4	BHLHE40	chr17:45809732-45809844	K562	blood:	n/a	n/a
5	CTCF	chr17:45808911-45811595	A549	lung:	n/a	chr17:45810724-45810737 chr17:45810100-45810109 chr17:45810725-45810735

Variant related genes	Relation type
TBX21	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11079788	0.89[CEU][hapmap]
rs11650354	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs11651000	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652603	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11655306	0.88[CEU][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11657388	0.89[CEU][hapmap]
rs11657479	0.89[CEU][hapmap]
rs11658895	1.00[ASN][1000 genomes]
rs16947078	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs17250932	0.97[AMR][1000 genomes]
rs17700839	1.00[CHB][hapmap]
rs41519545	0.90[AMR][1000 genomes]
rs55670919	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56172120	1.00[ASN][1000 genomes]
rs56254413	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57171311	1.00[ASN][1000 genomes]
rs72831632	0.97[AMR][1000 genomes]
rs72831681	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7502875	0.82[CEU][hapmap]
rs9898606	1.00[CHB][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11650451	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs11650451	HEXIM1	cis	cerebellum	SCAN
rs11650451	PSMC3IP	cis	cerebellum	SCAN
rs11650451	STAT5A	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45790000-45810400	Weak transcription	Right Atrium	heart
2	chr17:45799200-45810800	Weak transcription	Gastric	stomach
3	chr17:45806600-45810200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr17:45806800-45810200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:45808600-45810000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:45808800-45810200	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:45808800-45810600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:45809000-45810800	Bivalent Enhancer	Fetal Thymus	thymus
9	chr17:45809400-45810000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:45809400-45810000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr17:45809400-45810200	Enhancers	Primary B cells from cord blood	blood
12	chr17:45809400-45810400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr17:45809400-45810400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr17:45809400-45810400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr17:45809400-45810600	Enhancers	Primary hematopoietic stem cells	blood
16	chr17:45809600-45810000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:45809600-45810400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr17:45809600-45810400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:45809600-45810800	Enhancers	Spleen	Spleen
20	chr17:45809800-45810000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr17:45809800-45810000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr17:45809800-45810000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr17:45809800-45810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:45809800-45810000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr17:45809800-45810000	Bivalent Enhancer	GM12878-XiMat	blood
26	chr17:45809800-45810200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr17:45809800-45810200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:45809800-45810400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr17:45809800-45810400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr17:45809800-45810400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:45809800-45810400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr17:45809800-45810400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr17:45809800-45810600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr17:45809800-45810600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:45809800-45810600	Bivalent Enhancer	Dnd41	blood

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