Variant report

Variant	rs2244388
Chromosome Location	chr12:4547666-4547667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1019398	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849064	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10849069	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11063150	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11608707	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11610929	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11612742	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11612756	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11615557	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12367170	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12368351	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2241283	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970805	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2970806	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766242	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766243	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766244	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766246	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766247	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766248	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61909562	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7131828	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295812	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7299949	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7316012	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs888465	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs888466	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs888468	0.91[EUR][1000 genomes];0.89[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:4533400-4549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4542600-4550400	Weak transcription	Right Atrium	heart
3	chr12:4542800-4549000	Weak transcription	Left Ventricle	heart
4	chr12:4543000-4548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:4543200-4548000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:4543200-4549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:4543800-4548200	Weak transcription	HSMMtube	muscle
8	chr12:4544400-4549000	Weak transcription	Psoas Muscle	Psoas
9	chr12:4544400-4549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:4544600-4548400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:4544600-4548600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:4544600-4549000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:4544800-4548200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:4545000-4548600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:4545000-4549600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:4545200-4548000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:4545200-4548200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:4545400-4548400	Weak transcription	Fetal Thymus	thymus
19	chr12:4545600-4549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:4546600-4548400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:4546800-4548600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:4546800-4548600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:4546800-4548600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:4547000-4548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:4547200-4548000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:4547400-4549600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:4547400-4550000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:4547600-4548200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:4547600-4548400	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links