Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10444499	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10735108	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774940	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068589	0.84[EUR][1000 genomes]
rs1400589	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1400593	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517196	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517201	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517204	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1568154	0.80[EUR][1000 genomes]
rs1850403	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1976755	0.80[EUR][1000 genomes]
rs2650169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570668	0.84[EUR][1000 genomes]
rs4767580	0.85[EUR][1000 genomes]
rs4767581	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767583	0.84[EUR][1000 genomes]
rs6490130	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6490131	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6490137	0.85[EUR][1000 genomes]
rs6490139	0.85[EUR][1000 genomes]
rs708861	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305557	0.84[EUR][1000 genomes]
rs7956575	0.89[EUR][1000 genomes]
rs7957425	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7980301	0.80[EUR][1000 genomes]
rs816195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs860113	NIP30	trans	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118017800-118020000	Enhancers	Fetal Muscle Leg	muscle
2	chr12:118018000-118021400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:118018200-118020400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:118018800-118020200	Weak transcription	Fetal Brain Male	brain
5	chr12:118019000-118025000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:118019200-118021000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:118019200-118021200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:118019200-118021200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:118019200-118021200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:118019200-118021200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:118019200-118021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:118019200-118021400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:118019200-118021400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:118019200-118021400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:118019200-118021600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:118019400-118021200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:118019600-118021400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:118019800-118020400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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