Variant report

Variant	rs11068909
Chromosome Location	chr12:118767772-118767773
allele	A/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	chr12:118760395..118762832-chr12:118765688..118768481,2	K562	blood:
2	chr12:118765603..118769564-chr12:118810838..118814625,4	K562	blood:
3	chr12:118742809..118745415-chr12:118767577..118770424,2	MCF-7	breast:
4	chr12:118758501..118762498-chr12:118764368..118769658,5	K562	blood:
5	chr12:118763801..118766450-chr12:118767353..118769145,2	MCF-7	breast:
6	chr12:118763625..118770467-chr12:118808483..118814296,9	K562	blood:
7	chr12:118766497..118768322-chr12:118773115..118775978,2	MCF-7	breast:
8	chr12:118764089..118768365-chr12:118776795..118780945,4	K562	blood:
9	chr12:118754566..118756895-chr12:118766418..118769131,2	K562	blood:
10	chr12:118744025..118746291-chr12:118766645..118768402,2	K562	blood:
11	chr12:118766254..118768357-chr12:118781756..118783461,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000270482	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10850968	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap]
rs11068853	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs11068854	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs11068855	0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap]
rs11068856	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs11068860	0.94[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11068864	0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs11068865	1.00[ASW][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068871	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068872	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068878	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068880	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068881	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068883	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11068887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068888	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068889	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068891	0.94[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068892	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11068893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068898	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068899	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068900	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11068901	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068904	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068906	0.95[ASN][1000 genomes]
rs11068908	0.94[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs11068914	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068915	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068916	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068917	0.94[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs11068919	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs11068920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068922	0.86[ASN][1000 genomes]
rs11068923	1.00[ASW][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068924	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068926	0.82[ASN][1000 genomes]
rs11068930	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068933	0.94[CHB][hapmap];0.91[CHD][hapmap]
rs11068937	1.00[ASW][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11068940	1.00[EUR][1000 genomes]
rs11068941	1.00[EUR][1000 genomes]
rs11068943	1.00[EUR][1000 genomes]
rs11068945	1.00[EUR][1000 genomes]
rs12227411	0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227974	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228425	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229607	0.86[CHB][hapmap];0.91[ASN][1000 genomes]
rs12230104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12231358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12231845	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16948250	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs17586342	0.88[CHB][hapmap];0.81[CHD][hapmap]
rs17586582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17619569	0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap]
rs17619702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17619805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619932	0.94[CHB][hapmap];0.94[CHD][hapmap];0.88[ASN][1000 genomes]
rs2036314	0.82[ASN][1000 genomes]
rs2062520	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2271007	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2280711	0.88[CHB][hapmap];0.81[CHD][hapmap]
rs3741444	1.00[EUR][1000 genomes]
rs4442583	0.82[ASN][1000 genomes]
rs61943365	0.89[ASN][1000 genomes]
rs61943369	0.82[ASN][1000 genomes]
rs61943370	0.80[ASN][1000 genomes]
rs61943371	0.80[ASN][1000 genomes]
rs61945207	0.89[ASN][1000 genomes]
rs61945219	0.93[ASN][1000 genomes]
rs6490177	0.85[ASN][1000 genomes]
rs7132582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136216	0.88[CHB][hapmap];0.81[CHD][hapmap]
rs7296216	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73222058	0.91[ASN][1000 genomes]
rs7963464	0.93[ASN][1000 genomes]
rs7974718	0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs9888447	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560390	chr12:118756336-118778232	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11068909	SUDS3	cis	lymphoblastoid	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:118754800-118768200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:118757200-118769000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:118758400-118769000	Weak transcription	Pancreas	Pancrea
12	chr12:118760200-118768000	Weak transcription	NHEK	skin
13	chr12:118762000-118769000	Weak transcription	Fetal Thymus	thymus
14	chr12:118762600-118768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:118763000-118773800	Weak transcription	Dnd41	blood
16	chr12:118763400-118770800	Weak transcription	Thymus	Thymus
17	chr12:118763800-118769000	Weak transcription	Left Ventricle	heart
18	chr12:118764000-118774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:118764800-118768000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:118764800-118769000	Enhancers	Osteobl	bone
21	chr12:118764800-118769200	Enhancers	Fetal Lung	lung
22	chr12:118764800-118769200	Enhancers	NHLF	lung
23	chr12:118765000-118767800	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:118765200-118767800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:118765200-118773000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:118765400-118771000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:118765400-118771400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:118765400-118771600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:118765600-118768000	Enhancers	Primary B cells from cord blood	blood
30	chr12:118765800-118768200	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:118765800-118770600	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:118766400-118768200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:118766400-118769200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:118766600-118767800	Enhancers	HSMM	muscle
35	chr12:118766600-118768400	Enhancers	Brain Substantia Nigra	brain
36	chr12:118766600-118768400	Enhancers	Fetal Stomach	stomach
37	chr12:118766600-118768800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:118766600-118770600	Enhancers	K562	blood
39	chr12:118766800-118769200	Enhancers	NHDF-Ad	bronchial
40	chr12:118767000-118767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:118767000-118767800	Weak transcription	Fetal Intestine Large	intestine
42	chr12:118767000-118767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:118767000-118768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:118767000-118768200	Weak transcription	Psoas Muscle	Psoas
45	chr12:118767000-118768600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:118767000-118775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:118767200-118768200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:118767200-118768200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:118767200-118768200	Weak transcription	Fetal Intestine Small	intestine
50	chr12:118767200-118768200	Weak transcription	Small Intestine	intestine

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