Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56040086..56042095-chr12:56114770..56116489,2	MCF-7	breast:
2	chr12:55561734..55564390-chr12:56040616..56042476,2	K562	blood:

Variant related genes	Relation type
ENSG00000135437	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10161247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876831	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11171612	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11171621	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11171622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11171643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11171645	1.00[EUR][1000 genomes]
rs12299176	1.00[EUR][1000 genomes]
rs12303548	1.00[EUR][1000 genomes]
rs12305769	1.00[EUR][1000 genomes]
rs12306327	1.00[EUR][1000 genomes]
rs12313844	1.00[EUR][1000 genomes]
rs12313935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12314803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12578161	1.00[EUR][1000 genomes]
rs12580355	1.00[EUR][1000 genomes]
rs17120033	1.00[EUR][1000 genomes]
rs17120045	1.00[EUR][1000 genomes]
rs36194114	1.00[EUR][1000 genomes]
rs7973424	1.00[EUR][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	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56040400-56048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56040600-56042600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:56040600-56043000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:56040800-56042600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:56040800-56046000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:56040800-56046800	Weak transcription	Stomach Mucosa	stomach
7	chr12:56041200-56043800	Weak transcription	HepG2	liver
8	chr12:56041200-56048400	Weak transcription	Lung	lung
9	chr12:56041400-56042600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:56041400-56043000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:56041600-56043800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:56041600-56044800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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