Variant report

Variant	rs11112291
Chromosome Location	chr12:105393018-105393019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105379990..105383317-chr12:105392457..105395172,3	MCF-7	breast:
2	chr12:105384826..105387201-chr12:105391835..105393587,2	K562	blood:
3	chr12:105392063..105394759-chr12:105462525..105464694,2	K562	blood:
4	chr12:105379691..105382014-chr12:105391921..105394682,4	MCF-7	breast:
5	chr12:105391750..105393633-chr12:105396940..105398737,2	K562	blood:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	1.00[ASN][1000 genomes]
rs11112292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112295	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112315	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112316	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112318	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112333	1.00[ASN][1000 genomes]
rs11112381	1.00[ASN][1000 genomes]
rs11112389	1.00[ASN][1000 genomes]
rs11495192	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829598	1.00[ASN][1000 genomes]
rs12307372	1.00[ASN][1000 genomes]
rs12369202	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372369	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	1.00[ASN][1000 genomes]
rs17036595	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036608	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801070	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916348	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284118	1.00[ASN][1000 genomes]
rs56862143	1.00[ASN][1000 genomes]
rs60835294	1.00[ASN][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7138574	1.00[ASN][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7310860	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	1.00[ASN][1000 genomes]
rs7315964	1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	1.00[ASN][1000 genomes]
rs73179996	1.00[ASN][1000 genomes]
rs73179998	1.00[ASN][1000 genomes]
rs73180001	1.00[ASN][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193611	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73193619	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193626	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193630	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193631	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956643	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966109	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	1.00[ASN][1000 genomes]
rs7978034	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105381800-105393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:105381800-105398000	Strong transcription	A549	lung
3	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:105382000-105394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:105382000-105397800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:105382000-105401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:105382000-105401400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:105382200-105395000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:105382200-105395200	Strong transcription	Primary B cells from cord blood	blood
11	chr12:105382200-105395600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr12:105382200-105401400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:105382200-105402000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:105382200-105402000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:105382200-105402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:105382200-105402600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:105382400-105401200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:105382400-105401400	Strong transcription	Liver	Liver
19	chr12:105382600-105397800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:105382800-105394600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:105382800-105394800	Strong transcription	Primary T cells from cord blood	blood
22	chr12:105382800-105398000	Strong transcription	Adipose Nuclei	Adipose
23	chr12:105383000-105402000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:105383200-105396400	Strong transcription	Fetal Intestine Large	intestine
25	chr12:105383200-105398000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:105383400-105393200	Strong transcription	Dnd41	blood
27	chr12:105383400-105394200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr12:105383400-105399000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:105383600-105394800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:105383600-105401600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:105383800-105393800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:105383800-105397800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:105383800-105401200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:105384000-105394200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:105384000-105395000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:105384000-105402000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:105384200-105394400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:105384400-105394800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:105384800-105400000	Strong transcription	Brain Anterior Caudate	brain
40	chr12:105385000-105393800	Strong transcription	Placenta	Placenta
41	chr12:105385200-105394200	Strong transcription	Brain Hippocampus Middle	brain
42	chr12:105385200-105395000	Strong transcription	GM12878-XiMat	blood
43	chr12:105385600-105393800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:105385600-105394400	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr12:105385800-105393800	Strong transcription	Fetal Stomach	stomach
46	chr12:105385800-105395200	Strong transcription	Fetal Kidney	kidney
47	chr12:105385800-105401400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:105385800-105408400	Weak transcription	Fetal Heart	heart
49	chr12:105386000-105393800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:105387200-105396400	Weak transcription	Fetal Brain Male	brain

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