Variant report

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:20214780-20214930	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr2:20214740-20214890	AG04450	lung:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20214554..20219540-chr2:20268505..20271599,4	MCF-7	breast:
2	chr2:20212605..20214922-chr2:20216980..20220655,3	MCF-7	breast:
3	chr2:20212620..20214988-chr2:20250395..20252051,2	MCF-7	breast:
4	chr2:20212101..20214249-chr2:20214270..20216382,2	K562	blood:
5	chr2:20213367..20215755-chr2:20296083..20298973,4	MCF-7	breast:
6	chr2:20213655..20215850-chr2:20273111..20274656,2	MCF-7	breast:
7	chr2:20213361..20215470-chr2:20241959..20243915,2	MCF-7	breast:
8	chr2:20187710..20189541-chr2:20212607..20214933,2	K562	blood:
9	chr2:20214859..20216804-chr2:20293145..20294071,9	MCF-7	breast:
10	chr2:20214302..20217183-chr2:20301641..20303761,2	MCF-7	breast:
11	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
12	chr2:20214721..20216712-chr2:20262631..20264995,2	K562	blood:
13	chr2:20187189..20189541-chr2:20212582..20214933,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1016318	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10175486	0.94[CEU][hapmap]
rs10203067	0.89[CEU][hapmap]
rs10856792	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11096633	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11903882	0.82[EUR][1000 genomes]
rs12328613	0.88[CEU][hapmap]
rs12475660	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12478941	0.94[CEU][hapmap]
rs16987297	0.94[CEU][hapmap]
rs2006707	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62109425	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717139	0.89[CEU][hapmap]
rs936509	0.82[EUR][1000 genomes];0.80[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	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1147110	TTC32	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20212800-20216200	Weak transcription	HMEC	breast
2	chr2:20213000-20216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20213000-20218400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:20213000-20220600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:20213000-20227200	Weak transcription	Ovary	ovary
6	chr2:20213200-20217000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:20213200-20218400	Weak transcription	Fetal Heart	heart
8	chr2:20213200-20225000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:20213200-20227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:20213200-20227000	Weak transcription	Aorta	Aorta
11	chr2:20213400-20227400	Weak transcription	Fetal Kidney	kidney
12	chr2:20213400-20232200	Weak transcription	Right Ventricle	heart
13	chr2:20213600-20216600	Enhancers	HepG2	liver
14	chr2:20213600-20227000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:20214800-20220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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