Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40441273-40454218..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10082797	0.82[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.94[MKK][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784340	0.81[CHB][hapmap]
rs10877913	0.81[CHB][hapmap]
rs10877955	0.81[CHB][hapmap]
rs10877971	0.81[CHB][hapmap]
rs10878081	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174831	0.81[CHB][hapmap]
rs11174928	0.85[CHB][hapmap]
rs11175102	0.81[CHB][hapmap]
rs12372213	0.81[CHB][hapmap]
rs1482286	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17442157	0.81[CHB][hapmap]
rs2404347	0.87[ASW][hapmap];0.81[YRI][hapmap]
rs2638253	0.81[CEU][hapmap]
rs28365683	0.81[CHB][hapmap]
rs4611275	0.87[ASW][hapmap];0.81[YRI][hapmap]
rs515291	0.80[CHD][hapmap]
rs520138	0.82[YRI][hapmap]
rs561057	0.80[CHD][hapmap];0.81[YRI][hapmap]
rs568483	0.80[CHD][hapmap];0.81[YRI][hapmap]
rs569631	0.81[YRI][hapmap]
rs7971218	0.82[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.98[MKK][hapmap];0.80[TSI][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9804842	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv558597	chr12:40414631-40442892	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv819704	chr12:40441985-40442875	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40405400-40445200	Weak transcription	K562	blood
3	chr12:40419000-40447600	Weak transcription	Hela-S3	cervix
4	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
5	chr12:40426400-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:40428000-40452600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:40439600-40444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:40441000-40442200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:40441000-40442200	Enhancers	A549	lung
10	chr12:40441600-40442200	Enhancers	Pancreatic Islets	Pancreatic Islet

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