Variant report

Variant	rs2959656
Chromosome Location	chr11:64572018-64572019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64571826-64572057	A549	lung:	n/a	n/a
2	CTCF	chr11:64571759-64572081	K562	blood:	n/a	n/a
3	CTCF	chr11:64571880-64572030	HEK293	kidney:	n/a	n/a
4	CTCF	chr11:64571755-64572041	K562	blood:	n/a	n/a
5	RAD21	chr11:64571672-64572143	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:64572004-64572035	K562	blood:	n/a	n/a
7	CTCF	chr11:64571880-64572030	GM12868	blood:	n/a	n/a
8	CTCF	chr11:64571648-64572122	K562	blood:	n/a	n/a
9	CTCF	chr11:64571824-64572050	GM12878	blood:	n/a	n/a
10	CTCF	chr11:64571821-64572055	GM19239	blood:	n/a	n/a
11	CTCF	chr11:64571678-64572064	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:64571683-64572070	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:64571880-64572030	NHDF-neo	bronchial:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64567558..64572906-chr11:64572928..64575629,5	MCF-7	breast:
2	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
3	chr11:64570822..64573255-chr11:64603149..64605696,2	K562	blood:
4	chr11:64571157..64572955-chr11:64582092..64585314,3	K562	blood:
5	chr11:64542437..64548103-chr11:64565883..64573066,9	K562	blood:
6	chr11:64569062..64575536-chr11:64608720..64614805,15	MCF-7	breast:
7	chr11:64569782..64572996-chr11:64862581..64865602,3	K562	blood:
8	chr11:64568677..64572675-chr11:64611050..64613930,4	K562	blood:
9	chr11:64571014..64575800-chr11:64609684..64614421,7	K562	blood:
10	chr11:64552481..64554054-chr11:64570042..64572639,2	MCF-7	breast:
11	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
12	chr11:64543298..64549423-chr11:64566945..64572163,10	K562	blood:
13	chr11:64544683..64548200-chr11:64565443..64572182,16	MCF-7	breast:
14	chr11:64568489..64574764-chr11:64609155..64613913,19	MCF-7	breast:
15	chr11:64568159..64573413-chr11:64882450..64885409,5	K562	blood:
16	chr11:64084283..64086871-chr11:64570408..64572291,2	MCF-7	breast:
17	chr11:64509857..64513722-chr11:64571129..64574033,3	MCF-7	breast:
18	chr11:64570549..64572322-chr11:64863262..64865763,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAP4K2	TF binding region
ENSG00000269290	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000126432	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10897528	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231873	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11231874	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11231876	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231878	0.83[ASN][1000 genomes]
rs12273305	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2301564	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504195	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7101413	1.00[CEU][hapmap]
rs7125253	0.81[CHB][hapmap];0.94[CHD][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934756	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7949944	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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 target site	82 gene(s)	inside rSNPs	diseases
7	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
9	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
15	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
16	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
17	nsv897703	chr11:64538346-64574200	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
18	nsv519117	chr11:64546391-64573589	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
20	nsv555204	chr11:64561200-64574200	Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv555205	chr11:64561200-64575505	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv555206	chr11:64563757-64574200	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64571200-64572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:64571400-64572400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:64571400-64572600	Enhancers	Fetal Brain Male	brain
4	chr11:64571400-64577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:64571600-64572200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:64571600-64572200	Genic enhancers	Primary B cells from cord blood	blood
7	chr11:64571600-64572200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:64571600-64572200	Genic enhancers	Fetal Intestine Large	intestine
9	chr11:64571600-64572200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr11:64571600-64572200	Weak transcription	Ovary	ovary
11	chr11:64571600-64572200	Genic enhancers	Placenta Amnion	Placenta Amnion
12	chr11:64571600-64572200	Genic enhancers	NHLF	lung
13	chr11:64571600-64572400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:64571600-64572400	Genic enhancers	Primary hematopoietic stem cells	blood
15	chr11:64571600-64572400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:64571600-64572400	Enhancers	Fetal Heart	heart
17	chr11:64571600-64572400	Transcr. at gene 5' and 3'	Hela-S3	cervix
18	chr11:64571600-64572400	Weak transcription	HSMM	muscle
19	chr11:64571600-64572600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:64571600-64572600	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr11:64571600-64572600	Genic enhancers	Esophagus	oesophagus
22	chr11:64571600-64572800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:64571600-64572800	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr11:64571600-64572800	Genic enhancers	Placenta	Placenta
25	chr11:64571600-64573000	Genic enhancers	Right Ventricle	heart
26	chr11:64571600-64574400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:64571600-64576600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:64571800-64572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:64571800-64572200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:64571800-64572200	Weak transcription	Brain Angular Gyrus	brain
31	chr11:64571800-64572200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:64571800-64572200	Enhancers	HMEC	breast
33	chr11:64571800-64572400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:64571800-64572400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:64571800-64572400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:64571800-64572400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:64571800-64572400	Genic enhancers	Gastric	stomach
38	chr11:64571800-64572600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:64571800-64572600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:64571800-64572800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:64571800-64572800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:64571800-64572800	Genic enhancers	Pancreas	Pancrea
43	chr11:64571800-64573200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:64571800-64573200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:64571800-64573400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:64571800-64573600	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr11:64571800-64574400	Genic enhancers	Spleen	Spleen
48	chr11:64571800-64575000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:64571800-64575200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:64571800-64575600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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