Variant report

Variant	rs12418407
Chromosome Location	chr11:67113900-67113901
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67088021..67089768-chr11:67113713..67115531,2	K562	blood:
2	chr11:67110615..67115387-chr11:67116003..67119509,5	K562	blood:
3	chr11:67113451..67114182-chr11:67150739..67151716,2	MCF-7	breast:
4	chr11:67112594..67114538-chr15:45691318..45694198,2	MCF-7	breast:
5	chr11:67113591..67116192-chr11:67119640..67121203,2	K562	blood:
6	chr11:67112957..67114004-chr11:67149652..67150619,6	MCF-7	breast:
7	chr11:67083580..67086941-chr11:67112565..67115612,3	MCF-7	breast:
8	chr11:67113185..67116307-chr11:67139690..67143271,6	K562	blood:
9	chr11:67112769..67115040-chr11:67121657..67123708,3	K562	blood:
10	chr11:67109888..67111896-chr11:67113445..67115142,2	MCF-7	breast:
11	chr11:67088738..67091729-chr11:67113065..67116327,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12279818	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12285097	0.93[AMR][1000 genomes]
rs12417116	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12417429	1.00[EUR][1000 genomes]
rs12417770	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12420556	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12420763	1.00[JPT][hapmap]
rs12421018	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12421536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1573536	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17148080	1.00[JPT][hapmap]
rs17148183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880138	1.00[ASN][1000 genomes]
rs17884022	1.00[EUR][1000 genomes]
rs17885585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871033	1.00[EUR][1000 genomes]
rs1871044	1.00[EUR][1000 genomes]
rs2066494	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364240	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3730140	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs4382915	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567468	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs4930432	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs4930435	1.00[EUR][1000 genomes]
rs61731786	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61758493	0.82[AMR][1000 genomes]
rs61759803	0.82[AMR][1000 genomes]
rs61759806	0.82[AMR][1000 genomes]
rs7396248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs868167	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs887315	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs887316	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
2	chr11:67086600-67118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67086800-67118800	Weak transcription	Fetal Brain Male	brain
4	chr11:67087800-67119000	Weak transcription	Fetal Brain Female	brain
5	chr11:67089400-67116800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:67089800-67117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:67090000-67118600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:67090200-67115400	Weak transcription	Lung	lung
9	chr11:67099200-67118600	Weak transcription	Thymus	Thymus
10	chr11:67101600-67116400	Weak transcription	Right Ventricle	heart
11	chr11:67101600-67118600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:67101600-67118600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:67110200-67118600	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:67111200-67114000	Enhancers	Primary T cells from cord blood	blood
15	chr11:67111200-67114000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr11:67111200-67114000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:67111200-67114000	Enhancers	Spleen	Spleen
18	chr11:67111200-67114200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:67111200-67114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:67111200-67114200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:67111200-67114200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:67111200-67114200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:67111200-67114400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:67111200-67114800	Enhancers	Primary B cells from cord blood	blood
25	chr11:67111200-67115400	Enhancers	Fetal Intestine Small	intestine
26	chr11:67111400-67114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:67111400-67114000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:67111400-67114200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:67111400-67117400	Enhancers	Stomach Mucosa	stomach
30	chr11:67111600-67114000	Enhancers	Fetal Thymus	thymus
31	chr11:67111800-67117600	Enhancers	Pancreas	Pancrea
32	chr11:67112000-67114400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:67112000-67118600	Weak transcription	Dnd41	blood
34	chr11:67112200-67118400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:67112400-67114200	Enhancers	Colonic Mucosa	Colon
36	chr11:67112400-67118800	Weak transcription	Brain Substantia Nigra	brain
37	chr11:67112600-67114000	Enhancers	Fetal Lung	lung
38	chr11:67112600-67114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:67112600-67114200	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:67112600-67114200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:67112600-67114200	Enhancers	HepG2	liver
42	chr11:67112600-67114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:67112600-67114400	Enhancers	HMEC	breast
44	chr11:67112600-67118000	Enhancers	Fetal Intestine Large	intestine
45	chr11:67112800-67114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:67112800-67114200	Enhancers	Hela-S3	cervix
47	chr11:67112800-67114600	Enhancers	NHEK	skin
48	chr11:67112800-67118400	Weak transcription	Fetal Stomach	stomach
49	chr11:67113000-67114000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:67113000-67114000	Enhancers	Gastric	stomach

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