Variant report

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20587207..20591991-chr2:20644052..20649862,9	MCF-7	breast:
2	chr2:20589678..20592610-chr2:20835889..20837423,2	K562	blood:
3	chr2:20422518..20424847-chr2:20590400..20592005,2	MCF-7	breast:
4	chr2:20584674..20587082-chr2:20589576..20591845,3	MCF-7	breast:
5	chr2:20589928..20592438-chr2:20597570..20599996,2	MCF-7	breast:
6	chr2:20550053..20554688-chr2:20590086..20593579,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PUM2-4	chr2:20591034-20591177	l_1787_chr2:20588793-20591177_liver

No data

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs343150	0.83[GIH][hapmap]
rs343151	0.83[CHB][hapmap]
rs343154	0.88[CHB][hapmap];0.84[EUR][1000 genomes];0.96[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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1032075	GDF7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
2	chr2:20585800-20593800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:20586600-20592000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:20587200-20591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20587800-20591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:20589800-20592600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:20590000-20592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20590200-20591200	Enhancers	HSMMtube	muscle
9	chr2:20590400-20592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:20590600-20592000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:20590800-20595600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:20591000-20593600	Weak transcription	Fetal Brain Male	brain

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