Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168798738..168800439-chr1:168814103..168816645,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1546880	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs169266	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs200560	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs200563	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs200564	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs200566	0.89[EUR][1000 genomes]
rs200567	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs200568	0.89[EUR][1000 genomes]
rs200569	0.86[EUR][1000 genomes]
rs200570	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs200572	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs200574	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs200576	0.90[EUR][1000 genomes]
rs2038098	0.92[EUR][1000 genomes]
rs2056971	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36001119	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7524938	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7555365	0.85[EUR][1000 genomes]
rs857641	0.88[EUR][1000 genomes]
rs909805	0.88[EUR][1000 genomes]
rs986617	0.90[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv464250	chr1:168772393-168826032	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548145	chr1:168772393-168826032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168810400-168816000	Enhancers	Stomach Mucosa	stomach
2	chr1:168811400-168816200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:168812400-168816000	Enhancers	Fetal Brain Male	brain
4	chr1:168812600-168817800	Weak transcription	Psoas Muscle	Psoas
5	chr1:168813000-168817800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:168814400-168816000	Enhancers	Fetal Heart	heart
7	chr1:168814800-168815800	Enhancers	Esophagus	oesophagus
8	chr1:168815000-168816000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:168815200-168818000	Weak transcription	Fetal Lung	lung
10	chr1:168815600-168815800	Enhancers	Gastric	stomach
11	chr1:168815600-168815800	Enhancers	Left Ventricle	heart
12	chr1:168815600-168815800	Enhancers	Lung	lung
13	chr1:168815600-168815800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:168815600-168816000	Enhancers	Fetal Intestine Large	intestine
15	chr1:168815600-168816000	Enhancers	Fetal Intestine Small	intestine

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