Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:180524885..180529280-chr1:180535382..180538296,3	MCF-7	breast:
2	chr1:180535652..180538329-chr1:180539867..180543816,3	K562	blood:
3	chr1:180513656..180516816-chr1:180534714..180539709,4	K562	blood:
4	chr1:180536800..180538673-chr1:180600367..180602575,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10494531	1.00[ASN][1000 genomes]
rs12028578	0.92[EUR][1000 genomes]
rs12073348	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12077656	1.00[CHB][hapmap]
rs12562357	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12723609	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12735662	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12754682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856420	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17301118	1.00[ASN][1000 genomes]
rs17301132	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17373133	1.00[ASN][1000 genomes]
rs3845400	1.00[ASN][1000 genomes]
rs3845401	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6663339	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67466592	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72720941	1.00[ASN][1000 genomes]
rs72720943	1.00[ASN][1000 genomes]
rs72720953	1.00[ASN][1000 genomes]
rs72720958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533389	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180532600-180539800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:180532600-180540400	Weak transcription	A549	lung
3	chr1:180532800-180539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:180532800-180539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:180532800-180539600	Weak transcription	HMEC	breast
6	chr1:180533000-180538600	Weak transcription	Osteobl	bone
7	chr1:180534000-180539400	Weak transcription	K562	blood
8	chr1:180535000-180539400	Weak transcription	Fetal Heart	heart
9	chr1:180535000-180540400	Weak transcription	Right Ventricle	heart
10	chr1:180535400-180539600	Weak transcription	HSMMtube	muscle
11	chr1:180535400-180540800	Weak transcription	Pancreas	Pancrea
12	chr1:180536200-180539000	Weak transcription	Left Ventricle	heart
13	chr1:180536200-180543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:180537000-180538600	Enhancers	Fetal Brain Female	brain
15	chr1:180537200-180540000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:180537200-180541400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:180537200-180541400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:180537400-180537800	Flanking Active TSS	Fetal Brain Male	brain
19	chr1:180537400-180539200	Weak transcription	HepG2	liver
20	chr1:180537400-180541600	Weak transcription	Fetal Intestine Large	intestine

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