Variant report

Variant	rs558864
Chromosome Location	chr11:64107143-64107144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr11:64106984-64107965	GM19099	blood:	n/a	n/a
2	NFIC	chr11:64107000-64107903	GM12878	blood:	n/a	n/a
3	RELA	chr11:64107000-64107978	GM12891	blood:	n/a	n/a
4	PML	chr11:64107081-64108570	GM12878	blood:	n/a	n/a
5	RELA	chr11:64107058-64108225	GM18951	blood:	n/a	n/a
6	POLR2A	chr11:64106838-64108401	GM19099	blood:	n/a	n/a
7	POLR2A	chr11:64106936-64108469	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr11:64107116-64107894	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:64107062-64108493	GM12878	blood:	n/a	n/a
10	RUNX3	chr11:64107065-64108007	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:64106788-64108606	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:64107047-64108499	Raji	blood:	n/a	n/a
13	RUNX3	chr11:64107053-64108551	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:64106985-64108487	GM12891	blood:	n/a	n/a
15	STAT5A	chr11:64106890-64107380	GM12878	blood:	n/a	n/a
16	STAT1	chr11:64107065-64107285	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:64106688-64107873	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:64106744-64108657	GM12878	blood:	n/a	n/a
19	MTA3	chr11:64106840-64108780	GM12878	blood:	n/a	n/a
20	WRNIP1	chr11:64106908-64107602	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64006889..64009385-chr11:64105672..64108941,3	K562	blood:
2	chr11:64105286..64107200-chr11:64107652..64110098,2	MCF-7	breast:
3	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
4	chr11:64094386..64097437-chr11:64105553..64107544,3	K562	blood:
5	chr11:64034810..64036512-chr11:64105222..64107268,2	K562	blood:
6	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
7	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
8	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
9	chr11:64106209..64107766-chr11:64119904..64122675,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000173113	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000236935	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000219435	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1199175	0.83[AMR][1000 genomes]
rs1318165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477074	0.91[AFR][1000 genomes]
rs477909	0.83[AMR][1000 genomes]
rs483515	0.83[AMR][1000 genomes]
rs484384	0.83[AMR][1000 genomes]
rs488760	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs494403	0.84[MKK][hapmap];0.83[AMR][1000 genomes]
rs512372	0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs513264	0.83[AMR][1000 genomes]
rs523525	0.83[AMR][1000 genomes]
rs545916	0.83[AMR][1000 genomes]
rs550819	0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs558105	0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs564687	0.83[AMR][1000 genomes]
rs565221	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs566049	0.87[ASW][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs590103	0.83[AMR][1000 genomes]
rs594241	0.89[AFR][1000 genomes]
rs601845	0.83[AMR][1000 genomes]
rs614047	1.00[LWK][hapmap];0.81[MKK][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs620645	0.82[YRI][hapmap]
rs632439	0.93[YRI][hapmap]
rs648220	0.83[AMR][1000 genomes]
rs649463	0.83[AMR][1000 genomes]
rs652611	0.87[ASW][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs676931	0.87[ASW][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs681797	1.00[MKK][hapmap];0.83[AMR][1000 genomes]
rs7938623	0.82[YRI][hapmap]
rs7941847	0.87[ASW][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	nsv555193	chr11:64107143-64120574	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64099600-64107600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:64099800-64107600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:64099800-64108000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:64099800-64108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:64099800-64108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:64099800-64108400	Weak transcription	Left Ventricle	heart
8	chr11:64099800-64109600	Weak transcription	Liver	Liver
9	chr11:64100000-64109000	Weak transcription	Pancreas	Pancrea
10	chr11:64100200-64108000	Weak transcription	Lung	lung
11	chr11:64100200-64108200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:64102400-64107200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:64103000-64107200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:64103000-64107400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:64103000-64107800	Weak transcription	Right Ventricle	heart
16	chr11:64103000-64108600	Weak transcription	A549	lung
17	chr11:64103000-64109600	Weak transcription	Right Atrium	heart
18	chr11:64103200-64107200	Weak transcription	Spleen	Spleen
19	chr11:64103400-64107400	Weak transcription	Placenta	Placenta
20	chr11:64103400-64109600	Weak transcription	NH-A	brain
21	chr11:64103800-64109400	Weak transcription	NHEK	skin
22	chr11:64104000-64107400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:64104000-64108800	Weak transcription	HMEC	breast
24	chr11:64104200-64108600	Weak transcription	Stomach Mucosa	stomach
25	chr11:64104800-64107400	Enhancers	Hela-S3	cervix
26	chr11:64106400-64107200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:64106400-64107600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:64106400-64107600	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:64106400-64107800	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:64106600-64107200	Enhancers	K562	blood
31	chr11:64106600-64107400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:64106600-64108000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:64106600-64108800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:64106800-64107200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:64106800-64107200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:64106800-64107200	Active TSS	Stomach Smooth Muscle	stomach
37	chr11:64106800-64107600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:64106800-64107600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:64106800-64107800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:64106800-64108200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:64106800-64108600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr11:64106800-64108800	Flanking Active TSS	Fetal Thymus	thymus
43	chr11:64106800-64109000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:64106800-64110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:64107000-64107200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr11:64107000-64107200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:64107000-64107200	Active TSS	Colonic Mucosa	Colon
48	chr11:64107000-64107200	Enhancers	Gastric	stomach
49	chr11:64107000-64107200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr11:64107000-64107200	Enhancers	Small Intestine	intestine

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