Variant report

Variant	rs12794768
Chromosome Location	chr11:16626522-16626523
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16490554..16493241-chr11:16624494..16627232,2	K562	blood:
2	chr11:16402440..16404530-chr11:16626484..16629109,2	K562	blood:
3	chr11:16398988..16400507-chr11:16625140..16626803,2	K562	blood:
4	chr11:16434709..16436464-chr11:16625025..16626547,2	K562	blood:
5	chr11:16445154..16447273-chr11:16624940..16627233,2	K562	blood:
6	chr11:16396650..16399546-chr11:16625547..16627427,2	K562	blood:
7	chr11:16624162..16627157-chr11:16627962..16631164,4	MCF-7	breast:
8	chr11:16402440..16405189-chr11:16626177..16627984,2	K562	blood:
9	chr11:16316414..16318651-chr11:16625484..16627197,2	K562	blood:
10	chr11:16304365..16307291-chr11:16625396..16627357,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10734249	0.86[EUR][1000 genomes]
rs10741708	0.85[EUR][1000 genomes]
rs12791781	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12793714	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12799800	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12799969	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12800576	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12804277	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1501451	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1846936	0.91[EUR][1000 genomes]
rs1967192	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1995343	0.91[EUR][1000 genomes]
rs2221243	0.81[EUR][1000 genomes]
rs34097789	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34168776	0.86[ASN][1000 genomes]
rs34241215	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34391086	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34793179	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34812104	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35199438	1.00[ASN][1000 genomes]
rs35359042	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35384953	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35563581	0.82[ASN][1000 genomes]
rs35925952	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36141792	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3802963	0.91[EUR][1000 genomes]
rs3921675	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4756860	0.84[EUR][1000 genomes]
rs4756862	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4757428	0.81[EUR][1000 genomes]
rs57897281	0.81[ASN][1000 genomes]
rs60406205	0.80[ASN][1000 genomes]
rs6486310	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6486312	0.93[EUR][1000 genomes]
rs66601782	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66670205	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110136	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7117140	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7125262	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7128484	0.94[EUR][1000 genomes]
rs7939889	0.86[EUR][1000 genomes]
rs7944906	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16624800-16626600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:16624800-16627200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr11:16624800-16629600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:16624800-16630200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:16625000-16629800	Active TSS	Psoas Muscle	Psoas
6	chr11:16625000-16630000	Active TSS	Right Ventricle	heart
7	chr11:16625200-16626600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr11:16625200-16628000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr11:16625200-16629000	Active TSS	Esophagus	oesophagus
10	chr11:16625200-16630000	Active TSS	Left Ventricle	heart
11	chr11:16625200-16630000	Active TSS	Right Atrium	heart
12	chr11:16625400-16626600	Flanking Bivalent TSS/Enh	Placenta	Placenta
13	chr11:16625400-16627000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
14	chr11:16625400-16627400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr11:16625400-16627400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:16625400-16628000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:16625400-16629400	Active TSS	Fetal Lung	lung
18	chr11:16625400-16629600	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:16625400-16629800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr11:16625400-16629800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
21	chr11:16625600-16626600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
22	chr11:16625600-16626600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr11:16625600-16626800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr11:16625600-16627200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:16625600-16627600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:16625600-16627800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:16625600-16629600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:16625600-16629800	Active TSS	Aorta	Aorta
29	chr11:16625600-16629800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:16625600-16629800	Bivalent/Poised TSS	HSMM	muscle
31	chr11:16625600-16630000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:16625600-16630000	Active TSS	Fetal Heart	heart
33	chr11:16625800-16626600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:16625800-16626600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:16625800-16627000	Bivalent/Poised TSS	Fetal Thymus	thymus
36	chr11:16625800-16627000	Active TSS	Gastric	stomach
37	chr11:16625800-16627000	Bivalent/Poised TSS	Osteobl	bone
38	chr11:16625800-16627200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:16625800-16627200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr11:16625800-16627600	Active TSS	Lung	lung
41	chr11:16625800-16627800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr11:16625800-16628000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:16625800-16628000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:16625800-16628000	Active TSS	K562	blood
45	chr11:16625800-16629200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr11:16625800-16629200	Active TSS	Pancreas	Pancrea
47	chr11:16625800-16629400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:16625800-16629600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:16625800-16629800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:16625800-16629800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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