Variant report

Variant	rs17744726
Chromosome Location	chr8:11411823-11411824
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	chr8:11411013-11412003	A549	lung:	n/a	chr8:11411435-11411444
2	RAD21	chr8:11411007-11411848	HCT-116	colon:	n/a	chr8:11411431-11411441
3	POLR2A	chr8:11411023-11412299	GM12878	blood:	n/a	n/a
4	CTCF	chr8:11410651-11412046	SK-N-SH	brain:	n/a	chr8:11411435-11411444
5	RAD21	chr8:11410447-11412527	SK-N-SH	brain:	n/a	chr8:11411431-11411441
6	CTCF	chr8:11411720-11411870	WERI-Rb-1	eye:	n/a	n/a
7	SMC3	chr8:11410426-11413393	SK-N-SH	brain:	n/a	chr8:11411431-11411445
8	MTA3	chr8:11410807-11412001	GM12878	blood:	n/a	n/a
9	RAD21	chr8:11411054-11411861	HCT-116	colon:	n/a	chr8:11411431-11411441
10	POLR2A	chr8:11411355-11412027	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11410081-11412495	GM12878	blood:	n/a	n/a
12	RAD21	chr8:11411103-11411863	A549	lung:	n/a	chr8:11411431-11411441
13	CTCF	chr8:11411760-11411910	GM12864	blood:	n/a	n/a
14	POLR2A	chr8:11408969-11419349	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:

Variant related genes	Relation type
ENSG00000269954	TF binding region
ENSG00000254774	TF binding region
ENSG00000136573	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10108511	1.00[CHB][hapmap]
rs1042701	1.00[CHB][hapmap]
rs11250146	1.00[CHB][hapmap]
rs11775779	1.00[CHB][hapmap]
rs11776834	1.00[CHB][hapmap]
rs11777273	1.00[CHB][hapmap]
rs11780980	1.00[CHB][hapmap]
rs11781400	1.00[CHB][hapmap]
rs11784016	1.00[CHB][hapmap]
rs11786737	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12156238	1.00[CHB][hapmap]
rs13272061	1.00[CHB][hapmap]
rs13439415	1.00[CHB][hapmap]
rs1382567	1.00[CHB][hapmap]
rs1478890	1.00[CHB][hapmap]
rs2127127	1.00[CHB][hapmap]
rs2245232	1.00[CHB][hapmap]
rs2264306	1.00[CHB][hapmap]
rs2264866	1.00[CHB][hapmap]
rs2409784	1.00[CHB][hapmap]
rs2409798	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2618434	1.00[CHB][hapmap]
rs2736342	1.00[CHB][hapmap]
rs4606022	1.00[CHB][hapmap]
rs4840567	1.00[CHB][hapmap]
rs4841545	1.00[CHB][hapmap]
rs4841548	1.00[CHB][hapmap]
rs4841554	0.83[AMR][1000 genomes]
rs4841556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841567	1.00[CHB][hapmap]
rs6999912	1.00[CHB][hapmap]
rs7464263	1.00[CHB][hapmap]
rs7822109	1.00[CHB][hapmap]
rs7831885	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3429502	chr8:11408343-11412741	Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17744726	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs17744726	PRSS55	cis	cerebellum	SCAN
rs17744726	BLK	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404600-11418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr8:11406000-11417600	Genic enhancers	Primary B cells from cord blood	blood
4	chr8:11407800-11412000	Genic enhancers	GM12878-XiMat	blood
5	chr8:11407800-11412200	Weak transcription	HUVEC	blood vessel
6	chr8:11409600-11412800	Weak transcription	Spleen	Spleen
7	chr8:11409800-11414600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:11410400-11419600	Enhancers	Fetal Thymus	thymus
9	chr8:11410600-11415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:11410800-11413000	Weak transcription	Dnd41	blood
11	chr8:11411200-11412000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:11411400-11414000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:11411400-11414400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:11411400-11415600	Weak transcription	HSMM	muscle
15	chr8:11411600-11413000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11411600-11413200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:11411600-11413800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:11411600-11414600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:11411600-11415000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:11411800-11413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:11411800-11416200	Weak transcription	Fetal Heart	heart

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