Variant report

Variant	rs11118774
Chromosome Location	chr1:221785959-221785960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10495169	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11118755	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11118757	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11118759	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11118764	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118772	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118775	0.89[ASN][1000 genomes]
rs12021531	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12026855	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12039969	0.84[ASW][hapmap];0.86[CEU][hapmap];0.89[CHB][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12117680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12142838	0.88[EUR][1000 genomes]
rs12564947	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1338077	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1538249	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1933267	0.86[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4129174	0.86[CEU][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs953400	0.90[CEU][hapmap]
rs9658836	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9662660	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9725124	0.88[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221784600-221786200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:221785000-221786000	Enhancers	Brain Germinal Matrix	brain
3	chr1:221785000-221786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:221785200-221786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:221785200-221786000	Flanking Active TSS	Hela-S3	cervix
6	chr1:221785200-221786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:221785200-221786200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:221785200-221786200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:221785200-221786200	Enhancers	Placenta	Placenta
10	chr1:221785200-221786200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:221785200-221786200	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:221785200-221786200	Enhancers	NH-A	brain
13	chr1:221785200-221786400	Enhancers	Fetal Lung	lung
14	chr1:221785200-221786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:221785200-221786600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:221785200-221786600	Enhancers	NHDF-Ad	bronchial
17	chr1:221785200-221786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:221785400-221786000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:221785400-221786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:221785400-221786000	Enhancers	Adipose Nuclei	Adipose
21	chr1:221785400-221786000	Enhancers	Brain Hippocampus Middle	brain
22	chr1:221785400-221786000	Enhancers	Ovary	ovary
23	chr1:221785400-221786000	Enhancers	NHLF	lung
24	chr1:221785400-221786200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:221785400-221786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:221785400-221786200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:221785400-221786200	Enhancers	Fetal Stomach	stomach
28	chr1:221785400-221786200	Flanking Active TSS	A549	lung
29	chr1:221785400-221786200	Enhancers	HSMMtube	muscle
30	chr1:221785400-221786200	Enhancers	K562	blood
31	chr1:221785400-221786200	Enhancers	Osteobl	bone
32	chr1:221785400-221786400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:221785400-221786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:221785400-221786400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:221785400-221786400	Enhancers	NHEK	skin
36	chr1:221785400-221786800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:221785400-221786800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:221785600-221786000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:221785600-221786000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:221785600-221786000	Enhancers	Brain Angular Gyrus	brain
41	chr1:221785600-221786000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:221785600-221786200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:221785600-221786200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:221785600-221786200	Enhancers	Fetal Muscle Leg	muscle
45	chr1:221785600-221786200	Enhancers	Left Ventricle	heart
46	chr1:221785600-221786200	Enhancers	Psoas Muscle	Psoas
47	chr1:221785600-221786400	Enhancers	HMEC	breast
48	chr1:221785600-221786800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:221785600-221786800	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:221785800-221786200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links