Variant report

Variant	rs12145447
Chromosome Location	chr1:216772483-216772484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10495031	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863254	0.91[AFR][1000 genomes]
rs10863255	1.00[AFR][1000 genomes]
rs10863257	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117619	1.00[AFR][1000 genomes]
rs11117622	1.00[AFR][1000 genomes]
rs11117623	1.00[AFR][1000 genomes]
rs11117625	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11117632	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11117633	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11117637	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11117638	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11117639	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11572727	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11577409	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11581434	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11585397	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587086	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590373	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12122051	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12123789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12128352	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12129039	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12131827	0.91[AFR][1000 genomes]
rs12132004	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12133226	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12136640	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12140540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12354357	0.93[ASN][1000 genomes]
rs17669502	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17671012	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1984137	0.96[ASN][1000 genomes]
rs2173371	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35079003	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72737319	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
2	chr1:216757400-216773600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:216764800-216773400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:216769800-216773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:216769800-216773400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:216769800-216773800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:216770000-216773200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:216770000-216773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:216770000-216773200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:216770000-216773400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:216770000-216773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:216770000-216773400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:216770000-216773600	Weak transcription	Fetal Heart	heart
14	chr1:216770000-216773600	Weak transcription	Fetal Kidney	kidney
15	chr1:216770000-216773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:216770000-216774000	Weak transcription	Left Ventricle	heart
17	chr1:216770200-216773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:216770200-216773200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:216770200-216773200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:216770200-216773600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:216770200-216773600	Weak transcription	Fetal Lung	lung
22	chr1:216770200-216773800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:216770800-216773800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:216771400-216773600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:216771400-216773800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:216771600-216774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:216771800-216773000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:216772200-216773200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:216772200-216773200	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links