Variant report

Variant	rs12128667
Chromosome Location	chr1:227299072-227299073
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1045247	1.00[AFR][1000 genomes]
rs10495259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10495271	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10495272	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10916079	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11583247	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11583340	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11586575	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586734	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12117207	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12119448	0.82[EUR][1000 genomes]
rs12121729	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12122759	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12127665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12131913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133428	0.86[AFR][1000 genomes]
rs12134379	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12136857	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12141838	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12744825	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747807	0.82[EUR][1000 genomes]
rs12751015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752546	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12755437	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1320495	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17544956	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17545704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546688	0.83[EUR][1000 genomes]
rs17592190	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17601316	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17601919	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17602169	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2150874	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34169114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34556998	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35156994	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35651721	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35672262	0.82[EUR][1000 genomes]
rs35817866	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768422	0.93[EUR][1000 genomes]
rs3768431	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3820651	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61836468	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61836474	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6664330	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6681959	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6695431	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6698156	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7526822	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7538237	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv522990	chr1:227290139-227302912	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
3	chr1:227247400-227299800	Weak transcription	HMEC	breast
4	chr1:227251000-227300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
7	chr1:227271800-227299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:227272800-227331000	Weak transcription	Lung	lung
9	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:227275800-227302600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:227277200-227302600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:227282600-227318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:227285600-227308600	Weak transcription	Pancreas	Pancrea
14	chr1:227285600-227313800	Weak transcription	Gastric	stomach
15	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
17	chr1:227288000-227326400	Weak transcription	A549	lung
18	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:227288400-227299400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:227288400-227299400	Weak transcription	Ovary	ovary
21	chr1:227288400-227299600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:227288400-227299600	Weak transcription	Osteobl	bone
23	chr1:227288400-227302200	Weak transcription	Fetal Brain Male	brain
24	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:227288600-227299200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:227288600-227299200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:227288600-227299200	Weak transcription	Aorta	Aorta
29	chr1:227288600-227299200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:227288600-227299400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:227288600-227299600	Weak transcription	Brain Anterior Caudate	brain
32	chr1:227288600-227310800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:227288600-227312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:227288600-227313000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:227288600-227316000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
37	chr1:227288600-227332400	Weak transcription	NHLF	lung
38	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
39	chr1:227288800-227299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:227288800-227317200	Weak transcription	NHEK	skin
41	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
42	chr1:227289000-227312000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:227290200-227299600	Weak transcription	Stomach Mucosa	stomach
44	chr1:227290200-227309800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:227290400-227299200	Weak transcription	Fetal Intestine Large	intestine
46	chr1:227293000-227300200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:227294000-227300200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:227294200-227300200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:227294200-227300200	Strong transcription	Liver	Liver
50	chr1:227294600-227299200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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