Variant report

Variant	rs9677968
Chromosome Location	chr2:50251100-50251101
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	chr2:50245424..50247273-chr2:50250002..50252375,2	K562	blood:

Variant related genes	Relation type
ENSG00000179915	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10191808	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10192012	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs10196324	0.83[ASW][hapmap]
rs10197483	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10208220	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1035342	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs10495995	0.87[JPT][hapmap]
rs12233251	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12987268	0.87[JPT][hapmap]
rs13013447	0.87[JPT][hapmap]
rs1363048	0.81[JPT][hapmap]
rs1469794	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1819971	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1895130	0.81[JPT][hapmap]
rs2351152	0.81[JPT][hapmap]
rs4971634	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs4971636	0.87[JPT][hapmap]
rs4971640	0.81[JPT][hapmap]
rs6545145	0.81[JPT][hapmap]
rs6712970	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs6736816	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs6753833	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs7601845	0.81[JPT][hapmap]
rs768249	0.81[JPT][hapmap]
rs768250	0.87[JPT][hapmap]

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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv915588	chr2:50235306-50268306	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv431002	chr2:50243349-50259749	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1004550	chr2:50250335-50274067	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv581838	chr2:50250758-50274774	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9677968	NRXN1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50250400-50252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:50250800-50252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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