Variant report

Variant	rs9362250
Chromosome Location	chr6:86577688-86577689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10944149	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58334368	0.89[ASN][1000 genomes]
rs6454490	0.96[ASN][1000 genomes]
rs6906618	0.96[ASN][1000 genomes]
rs6910456	0.89[ASN][1000 genomes]
rs6912150	0.89[ASN][1000 genomes]
rs6913147	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919244	0.82[ASN][1000 genomes]
rs6937582	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495264	0.82[ASN][1000 genomes]
rs7738777	0.89[ASN][1000 genomes]
rs7752222	0.89[ASN][1000 genomes]
rs7760309	0.96[ASN][1000 genomes]
rs7764843	0.89[ASN][1000 genomes]
rs7766284	0.96[ASN][1000 genomes]
rs7771640	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772723	0.83[ASN][1000 genomes]
rs7774219	0.89[ASN][1000 genomes]
rs9342047	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344550	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344559	0.89[ASN][1000 genomes]
rs9344562	0.82[ASN][1000 genomes]
rs9353344	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353348	0.89[ASN][1000 genomes]
rs9359668	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359674	0.89[ASN][1000 genomes]
rs9362241	0.96[ASN][1000 genomes]
rs9362248	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9444368	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9450331	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450341	0.92[EUR][1000 genomes]
rs9450372	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028293	chr6:86353958-86778912	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
2	nsv538350	chr6:86353958-86778912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
3	nsv886335	chr6:86445651-86669361	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1022618	chr6:86465365-87432069	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538352	chr6:86465365-87432069	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1033637	chr6:86482045-86701733	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538353	chr6:86482045-86701733	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1802672	chr6:86546123-86662267	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv522858	chr6:86550985-86578833	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1018453	chr6:86555984-86761120	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv463940	chr6:86576854-86648436	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv604095	chr6:86576854-86648436	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv604096	chr6:86576854-86649705	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9362250	NT5E	cis	Thyroid	GTEx
rs9362250	NT5E	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86563200-86577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:86575200-86583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:86576200-86578000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:86576200-86578200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:86576400-86578000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:86576400-86579400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:86576600-86577800	Enhancers	Colon Smooth Muscle	Colon
8	chr6:86576800-86580000	Weak transcription	Psoas Muscle	Psoas
9	chr6:86577000-86578600	Weak transcription	Spleen	Spleen
10	chr6:86577000-86579000	Weak transcription	Esophagus	oesophagus
11	chr6:86577200-86578000	Enhancers	Fetal Lung	lung
12	chr6:86577200-86578400	Weak transcription	Ovary	ovary
13	chr6:86577200-86578400	Weak transcription	Pancreas	Pancrea
14	chr6:86577200-86578800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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