Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57424333..57426873-chr1:57465525..57467884,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11206946	1.00[EUR][1000 genomes]
rs11206947	1.00[EUR][1000 genomes]
rs11206948	1.00[EUR][1000 genomes]
rs11206950	1.00[EUR][1000 genomes]
rs11206951	1.00[EUR][1000 genomes]
rs11206952	1.00[EUR][1000 genomes]
rs12073104	1.00[EUR][1000 genomes]
rs12080262	1.00[EUR][1000 genomes]
rs12085408	1.00[EUR][1000 genomes]
rs12085412	1.00[EUR][1000 genomes]
rs12087759	1.00[EUR][1000 genomes]
rs12354123	1.00[EUR][1000 genomes]
rs1411007	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs17114693	1.00[EUR][1000 genomes]
rs17114752	1.00[EUR][1000 genomes]
rs17114759	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114763	1.00[EUR][1000 genomes]
rs17114769	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114782	1.00[EUR][1000 genomes]
rs17114926	1.00[EUR][1000 genomes]
rs34671672	1.00[EUR][1000 genomes]
rs56821517	1.00[EUR][1000 genomes]
rs58394001	1.00[EUR][1000 genomes]
rs58615684	1.00[EUR][1000 genomes]
rs59086132	1.00[EUR][1000 genomes]
rs6656406	1.00[EUR][1000 genomes]
rs72903367	1.00[EUR][1000 genomes]
rs72903371	1.00[EUR][1000 genomes]
rs72903380	1.00[EUR][1000 genomes]
rs72903382	1.00[EUR][1000 genomes]
rs74074345	1.00[EUR][1000 genomes]
rs74074380	1.00[EUR][1000 genomes]
rs74077328	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17114777	FAM49A	trans	lymphoblastoid	seeQTL
rs17114777	PERP	trans	lymphoblastoid	seeQTL
rs17114777	SHE	trans	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57457800-57480400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57458400-57466600	Weak transcription	Psoas Muscle	Psoas
3	chr1:57459000-57474600	Weak transcription	Fetal Brain Female	brain
4	chr1:57460400-57483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:57461800-57468000	Weak transcription	Liver	Liver
6	chr1:57463600-57468000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:57463800-57482200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:57464200-57473200	Weak transcription	Fetal Heart	heart
9	chr1:57464600-57468400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:57465400-57466400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:57465400-57470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:57466200-57466800	Enhancers	Brain Germinal Matrix	brain

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