Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143302745..143305016-chr3:143310291..143312385,2	K562	blood:
2	chr3:143310510..143312815-chr3:143313075..143315988,2	K562	blood:

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10513212	0.94[ASN][1000 genomes]
rs11719391	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13061355	0.80[ASN][1000 genomes]
rs13064748	0.81[ASN][1000 genomes]
rs13069703	0.80[ASN][1000 genomes]
rs13074668	0.96[ASN][1000 genomes]
rs13074737	0.96[ASN][1000 genomes]
rs13076949	0.81[ASN][1000 genomes]
rs13084941	0.92[ASN][1000 genomes]
rs1405017	0.81[ASN][1000 genomes]
rs1525858	0.81[ASN][1000 genomes]
rs1525863	0.81[ASN][1000 genomes]
rs16853857	0.81[ASN][1000 genomes]
rs2030818	0.92[ASN][1000 genomes]
rs35417581	0.81[ASN][1000 genomes]
rs4839601	0.81[ASN][1000 genomes]
rs4839602	0.81[ASN][1000 genomes]
rs4839603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746055	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143294400-143317800	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143296200-143313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:143297600-143320000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:143297600-143339000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:143298600-143312600	Weak transcription	Gastric	stomach
6	chr3:143300400-143336800	Weak transcription	Primary T cells from cord blood	blood
7	chr3:143302000-143311200	Weak transcription	Placenta	Placenta
8	chr3:143305200-143312600	Weak transcription	Fetal Lung	lung
9	chr3:143306000-143314000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:143307200-143313000	Weak transcription	Fetal Thymus	thymus
11	chr3:143309600-143311400	Enhancers	Fetal Intestine Large	intestine
12	chr3:143309800-143316000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:143310000-143316200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:143310200-143315600	Weak transcription	K562	blood
15	chr3:143310600-143311400	Enhancers	Pancreas	Pancrea
16	chr3:143310600-143311600	Enhancers	Small Intestine	intestine
17	chr3:143310600-143312000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:143311000-143312600	Weak transcription	Fetal Intestine Small	intestine
19	chr3:143311000-143314400	Enhancers	Duodenum Mucosa	Duodenum
20	chr3:143311000-143314400	Enhancers	Stomach Mucosa	stomach

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