Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122906669..122909024-chr12:122932310..122934097,2	MCF-7	breast:
2	chr12:122904517..122908948-chr12:122931200..122935714,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10773162	0.87[ASN][1000 genomes]
rs10846852	0.85[ASN][1000 genomes]
rs10846871	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846912	0.85[ASN][1000 genomes]
rs10846993	0.81[AFR][1000 genomes]
rs11058178	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11830957	0.85[ASN][1000 genomes]
rs12314537	0.81[ASN][1000 genomes]
rs12812332	0.85[ASN][1000 genomes]
rs12817342	0.81[AFR][1000 genomes]
rs12819355	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12829449	0.84[ASN][1000 genomes]
rs1392142	0.82[ASN][1000 genomes]
rs1532579	0.82[ASN][1000 genomes]
rs2341438	0.84[ASN][1000 genomes]
rs3825096	0.82[ASN][1000 genomes]
rs4758664	0.84[ASN][1000 genomes]
rs61956096	0.80[EUR][1000 genomes]
rs7305360	0.81[ASN][1000 genomes]
rs7953204	0.80[ASN][1000 genomes]
rs7955241	0.84[ASN][1000 genomes]
rs7959550	0.83[ASN][1000 genomes]
rs7964981	0.83[ASN][1000 genomes]
rs7970007	0.98[ASN][1000 genomes]
rs7972832	0.82[ASN][1000 genomes]
rs7973480	0.82[ASN][1000 genomes]
rs7978119	0.97[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931400-122933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:122931400-122938200	Weak transcription	HepG2	liver
4	chr12:122931800-122933600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:122931800-122933800	Weak transcription	A549	lung
6	chr12:122931800-122934000	Weak transcription	NHLF	lung
7	chr12:122931800-122934200	Weak transcription	NHEK	skin
8	chr12:122931800-122937400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:122931800-122938400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:122932000-122933600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:122932000-122933800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:122932000-122933800	Weak transcription	HMEC	breast
13	chr12:122932000-122934200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:122932200-122934000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:122932400-122933600	Weak transcription	Hela-S3	cervix
18	chr12:122933000-122935400	Enhancers	Placenta	Placenta

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