Variant report

Variant	rs2255108
Chromosome Location	chr8:11411351-11411352
allele	C/T
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	chr8:11411324-11411552	MCF-7	breast:	n/a	chr8:11411435-11411444
2	ATF2	chr8:11411191-11411587	GM12878	blood:	n/a	n/a
3	CTCF	chr8:11411300-11411571	HUVEC	blood vessel:	n/a	chr8:11411435-11411444
4	MYC	chr8:11411279-11411581	K562	blood:	n/a	n/a
5	YY1	chr8:11411120-11411666	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:11411260-11411410	GM12870	blood:	n/a	n/a
7	CTCF	chr8:11411299-11411576	Kidney_OC	kidney:	n/a	chr8:11411435-11411444
8	CTCF	chr8:11411291-11411609	LNCaP	prostate:	n/a	chr8:11411435-11411444
9	CTCF	chr8:11411340-11411490	HBMEC	blood vessel:	n/a	chr8:11411435-11411444
10	CTCF	chr8:11411167-11411627	K562	blood:	n/a	chr8:11411435-11411444
11	CTCF	chr8:11411194-11411635	A549	lung:	n/a	chr8:11411435-11411444
12	CTCF	chr8:11411307-11411582	H1-hESC	embryonic stem cell:	n/a	chr8:11411435-11411444
13	CTCF	chr8:11411312-11411518	SK-N-SH_RA	brain:	n/a	chr8:11411435-11411444
14	NANOG	chr8:11411301-11411583	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr8:11411302-11411606	GM12878	blood:	n/a	n/a
16	CTCF	chr8:11411320-11411470	AG04450	lung:	n/a	chr8:11411435-11411444
17	CTCF	chr8:11411249-11411594	ECC-1	luminal epithelium:	n/a	chr8:11411435-11411444
18	CTCF	chr8:11411340-11411490	GM12865	blood:	n/a	chr8:11411435-11411444
19	POU2F2	chr8:11411028-11411605	GM12878	blood:	n/a	chr8:11411217-11411229
20	BHLHE40	chr8:11411273-11411560	GM12878	blood:	n/a	n/a
21	RAD21	chr8:11411069-11411633	H1-hESC	embryonic stem cell:	n/a	chr8:11411431-11411441
22	SMC3	chr8:11411258-11411624	HepG2	liver:	n/a	chr8:11411431-11411445
23	PAX5	chr8:11411241-11411508	GM12878	blood:	n/a	n/a
24	CTCF	chr8:11411013-11412003	A549	lung:	n/a	chr8:11411435-11411444
25	RAD21	chr8:11411112-11411609	MCF-7	breast:	n/a	chr8:11411431-11411441
26	CTCF	chr8:11411273-11411696	MCF-7	breast:	n/a	chr8:11411435-11411444
27	RAD21	chr8:11411007-11411848	HCT-116	colon:	n/a	chr8:11411431-11411441
28	CTCF	chr8:11411340-11411490	GM12869	blood:	n/a	chr8:11411435-11411444
29	CTCF	chr8:11411340-11411490	RPTEC	kidney:	n/a	chr8:11411435-11411444
30	CTCF	chr8:11411340-11411490	NHEK	skin:	n/a	chr8:11411435-11411444
31	CTCF	chr8:11411304-11411559	SK-N-SH_RA	brain:	n/a	chr8:11411435-11411444
32	EBF1	chr8:11411343-11411534	GM12878	blood:	n/a	n/a
33	YY1	chr8:11411187-11411502	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr8:11411293-11411623	T-47D	breast:	n/a	chr8:11411435-11411444
35	CTCF	chr8:11411340-11411490	AG09319	gingival:	n/a	chr8:11411435-11411444
36	CTCF	chr8:11411298-11411604	T-47D	breast:	n/a	chr8:11411435-11411444
37	YY1	chr8:11411350-11411501	K562	blood:	n/a	n/a
38	SMC3	chr8:11411239-11411632	Hela-S3	cervix:	n/a	chr8:11411431-11411445
39	CTCF	chr8:11411320-11411470	HCM	heart:	n/a	chr8:11411435-11411444
40	CTCF	chr8:11411340-11411490	SK-N-SH_RA	brain:	n/a	chr8:11411435-11411444
41	CTCF	chr8:11411340-11411490	HepG2	liver:	n/a	chr8:11411435-11411444
42	RAD21	chr8:11411201-11411678	IMR90	lung:	n/a	chr8:11411431-11411441
43	CTCF	chr8:11411305-11411589	Fibrobl	skin:	n/a	chr8:11411435-11411444
44	CTCF	chr8:11411246-11411585	GM19239	blood:	n/a	chr8:11411435-11411444
45	CREB1	chr8:11411336-11411593	A549	lung:	n/a	n/a
46	CTCF	chr8:11411340-11411490	Hela-S3	cervix:	n/a	chr8:11411435-11411444
47	CTCF	chr8:11411340-11411490	HFF-Myc	foreskin:	n/a	chr8:11411435-11411444
48	MYC	chr8:11411317-11411528	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr8:11411269-11411521	A549	lung:	n/a	chr8:11411435-11411444
50	POLR2A	chr8:11411023-11412299	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
2	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
3	chr8:11286965..11287640-chr8:11410754..11411417,2	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12678951	0.84[ASN][1000 genomes]

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

No data

Chromatin state (count:42 , 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	chr8:11410200-11411400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:11410400-11411600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:11410400-11419600	Enhancers	Fetal Thymus	thymus
11	chr8:11410600-11415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:11410800-11411400	Enhancers	HSMM	muscle
13	chr8:11410800-11411600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr8:11410800-11411600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:11410800-11411600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:11410800-11413000	Weak transcription	Dnd41	blood
17	chr8:11411000-11411400	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:11411000-11411400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:11411000-11411400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
20	chr8:11411000-11411600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:11411000-11411600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:11411000-11411600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr8:11411000-11411600	Bivalent Enhancer	Fetal Brain Male	brain
24	chr8:11411000-11411600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:11411200-11411400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr8:11411200-11411400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:11411200-11411400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:11411200-11411400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr8:11411200-11411400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:11411200-11411400	Enhancers	A549	lung
31	chr8:11411200-11411400	Enhancers	NHEK	skin
32	chr8:11411200-11411600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:11411200-11411600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:11411200-11411600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:11411200-11411600	Bivalent Enhancer	Brain Germinal Matrix	brain
36	chr8:11411200-11411600	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr8:11411200-11411600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:11411200-11411600	Bivalent Enhancer	Thymus	Thymus
39	chr8:11411200-11411800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:11411200-11411800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:11411200-11411800	Enhancers	Fetal Heart	heart
42	chr8:11411200-11412000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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