Variant report

Variant	rs11112169
Chromosome Location	chr12:105085660-105085661
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105074936..105077629-chr12:105083624..105085773,2	K562	blood:
2	chr12:105083736..105085852-chr12:105089088..105090777,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10861268	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10861269	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112155	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11112156	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11112157	0.93[JPT][hapmap]
rs11112158	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11112159	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs11112160	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap]
rs11112161	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs11112162	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs11112163	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11112164	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112165	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112167	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11112168	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12228186	1.00[ASW][hapmap]
rs12581027	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2081808	1.00[ASW][hapmap]
rs7133386	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:105074000-105085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105074600-105089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:105076800-105086800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:105077000-105088600	Weak transcription	Lung	lung
9	chr12:105077000-105089000	Weak transcription	Left Ventricle	heart
10	chr12:105079000-105088000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:105079200-105085800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:105079800-105086400	Weak transcription	Fetal Brain Female	brain
13	chr12:105079800-105088800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:105080200-105085800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:105080200-105087800	Weak transcription	NH-A	brain
16	chr12:105080200-105088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:105080200-105088600	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:105080200-105088800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:105080400-105086000	Weak transcription	A549	lung
20	chr12:105080400-105087800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:105080400-105087800	Weak transcription	NHLF	lung
22	chr12:105080400-105088200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:105080400-105088800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:105080400-105131800	Weak transcription	NHEK	skin
25	chr12:105081000-105088600	Weak transcription	Small Intestine	intestine
26	chr12:105081600-105088400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:105081800-105086800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:105082000-105087200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:105082000-105087400	Genic enhancers	Dnd41	blood
30	chr12:105082200-105085800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:105082400-105086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:105082400-105087400	Weak transcription	Primary T cells from cord blood	blood
33	chr12:105082800-105087800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:105083200-105085800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:105083200-105086000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:105083400-105085800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:105083400-105085800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:105083600-105085800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:105083600-105086000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:105083600-105086400	Weak transcription	Right Ventricle	heart
41	chr12:105083600-105089400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:105083600-105091000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:105083600-105103600	Weak transcription	Placenta	Placenta
44	chr12:105083800-105085800	Weak transcription	Fetal Thymus	thymus
45	chr12:105084000-105087000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:105084400-105087000	Enhancers	Primary B cells from peripheral blood	blood
47	chr12:105084800-105086000	Enhancers	Brain Anterior Caudate	brain
48	chr12:105084800-105087400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:105084800-105089400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:105085000-105090000	Enhancers	Spleen	Spleen

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