Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107498401..107500522-chr5:107500663..107503662,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10036343	0.80[CHB][hapmap]
rs10054047	0.99[EUR][1000 genomes]
rs10075907	0.81[CHB][hapmap]
rs11242662	0.80[CEU][hapmap]
rs12515105	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12523367	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13159387	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17161080	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2044710	0.86[CHD][hapmap];0.84[GIH][hapmap]
rs2122158	0.86[CHD][hapmap];0.82[GIH][hapmap]
rs2416188	0.86[CHD][hapmap]
rs286794	0.82[TSI][hapmap]
rs2922424	0.86[CHD][hapmap];0.82[GIH][hapmap]
rs2922426	0.86[CHD][hapmap];0.84[GIH][hapmap]
rs2922428	0.88[CHD][hapmap];0.87[GIH][hapmap]
rs2966799	0.86[CHD][hapmap];0.80[GIH][hapmap]
rs34424	0.87[CHB][hapmap]
rs40070	0.86[CHB][hapmap]
rs40071	0.87[CHB][hapmap]
rs4541643	0.86[CHD][hapmap];0.82[GIH][hapmap]
rs4957550	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6596770	0.84[TSI][hapmap]
rs7717747	0.81[CHD][hapmap]
rs7732946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6870573	NCRNA00219	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107474600-107511000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:107475200-107527400	Weak transcription	Liver	Liver
4	chr5:107475800-107510400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:107476000-107535600	Weak transcription	Left Ventricle	heart
6	chr5:107480800-107521000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:107481600-107504400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:107482000-107510800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:107492200-107519800	Weak transcription	Ovary	ovary
10	chr5:107494000-107504600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:107494800-107503400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:107495400-107548800	Weak transcription	Pancreas	Pancrea
13	chr5:107496800-107528800	Weak transcription	Aorta	Aorta
14	chr5:107497800-107504600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:107501800-107502600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:107501800-107502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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