Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190482045..190484817-chr2:190504102..190506545,2	MCF-7	breast:
2	chr2:190462767..190465403-chr2:190503806..190505859,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16831873	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16831944	0.81[EUR][1000 genomes]
rs16831972	0.80[EUR][1000 genomes]
rs17271246	0.80[EUR][1000 genomes]
rs2164830	0.84[EUR][1000 genomes]
rs2278591	0.80[EUR][1000 genomes]
rs2289405	0.81[EUR][1000 genomes]
rs56137655	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742926	0.81[EUR][1000 genomes]
rs5742985	0.81[EUR][1000 genomes]
rs62183651	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183652	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183653	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183656	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183658	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183659	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62184265	0.80[EUR][1000 genomes]
rs62184267	0.81[EUR][1000 genomes]
rs62184268	0.81[EUR][1000 genomes]
rs62185869	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62185872	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62185874	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62185897	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6726636	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72920421	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16831821	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs16831821	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs16831821	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190502000-190506000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:190503000-190506200	Enhancers	Fetal Intestine Large	intestine
3	chr2:190503200-190506800	Enhancers	Hela-S3	cervix
4	chr2:190503400-190507000	Enhancers	Stomach Mucosa	stomach
5	chr2:190504200-190506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:190505000-190506000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:190505600-190506600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:190505600-190506600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:190505600-190506600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:190505800-190506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:190505800-190506400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:190505800-190506400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:190505800-190506600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:190505800-190506800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:190505800-190506800	Enhancers	HUES6 Cell Line	embryonic stem cell

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