Variant report

Variant	rs12213080
Chromosome Location	chr6:142347903-142347904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142331145..142333500-chr6:142346672..142348652,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11155227	0.86[EUR][1000 genomes]
rs11155228	0.86[EUR][1000 genomes]
rs11155232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155233	0.98[EUR][1000 genomes]
rs11155234	0.86[CEU][hapmap]
rs11968035	0.98[EUR][1000 genomes]
rs12193129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193417	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12199497	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12206319	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12212141	0.89[EUR][1000 genomes]
rs12529190	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12529748	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13192891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193057	0.86[EUR][1000 genomes]
rs13201184	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071365	1.00[CHB][hapmap]
rs17071369	1.00[CHB][hapmap]
rs17071371	1.00[CHB][hapmap]
rs225625	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs225626	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs225638	0.81[CEU][hapmap]
rs225647	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs225649	0.80[CEU][hapmap]
rs225694	0.81[CEU][hapmap]
rs28421672	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28829724	0.90[ASN][1000 genomes]
rs28850666	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34933058	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35664031	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35999198	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4128460	0.92[EUR][1000 genomes]
rs4541765	0.89[EUR][1000 genomes]
rs58624091	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61132906	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7450527	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744927	0.98[EUR][1000 genomes]
rs7754673	1.00[CHB][hapmap]
rs7764878	0.98[EUR][1000 genomes]
rs7765415	0.89[EUR][1000 genomes]
rs9496222	0.87[AMR][1000 genomes]
rs9496225	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9496226	0.90[ASN][1000 genomes]
rs9496231	0.98[EUR][1000 genomes]
rs9496232	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604792	chr6:142192725-142399251	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1019170	chr6:142234933-142397088	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv886731	chr6:142287143-142364628	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv886733	chr6:142316672-142514226	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv464069	chr6:142322456-142407741	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv604794	chr6:142322456-142407741	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1027489	chr6:142336722-142429903	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12213080	GPR126	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142335600-142351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:142336800-142349200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:142345000-142350200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:142346800-142348400	Active TSS	K562	blood
5	chr6:142346800-142349000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:142347200-142348000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:142347200-142348000	Enhancers	HMEC	breast
8	chr6:142347400-142349800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:142347600-142348000	Enhancers	NHEK	skin
10	chr6:142347600-142348600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:142347800-142348000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:142347800-142360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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