Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38756770..38758760-chr2:38767027..38769567,2	K562	blood:
2	chr2:38754284..38759029-chr2:38759211..38765156,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271443	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10164547	0.85[EUR][1000 genomes]
rs12105827	0.93[ASN][1000 genomes]
rs12993657	0.97[ASN][1000 genomes]
rs13003268	0.96[ASN][1000 genomes]
rs13008970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13011825	0.97[ASN][1000 genomes]
rs13017981	0.96[ASN][1000 genomes]
rs13030122	0.85[EUR][1000 genomes]
rs17421378	0.84[ASN][1000 genomes]
rs17421399	0.93[ASN][1000 genomes]
rs17493321	0.91[ASN][1000 genomes]
rs34171322	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34218951	0.88[ASN][1000 genomes]
rs34311924	0.97[ASN][1000 genomes]
rs34355269	0.94[ASN][1000 genomes]
rs34655983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35066504	0.97[ASN][1000 genomes]
rs35120096	0.96[ASN][1000 genomes]
rs35275207	0.96[ASN][1000 genomes]
rs35299812	0.89[ASN][1000 genomes]
rs35789272	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35803605	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3731843	0.96[ASN][1000 genomes]
rs72795132	0.97[ASN][1000 genomes]
rs7574556	0.88[ASN][1000 genomes]
rs7584009	0.90[ASN][1000 genomes]
rs7592090	0.97[ASN][1000 genomes]
rs7603200	0.96[ASN][1000 genomes]
rs7606253	0.97[ASN][1000 genomes]
rs7606376	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv527492	chr2:38753337-38759797	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:38755600-38758800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:38755600-38760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:38755600-38762800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:38755600-38763000	Weak transcription	Esophagus	oesophagus
7	chr2:38755600-38763000	Weak transcription	Pancreas	Pancrea
8	chr2:38756000-38760200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:38756000-38760200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:38756000-38760400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:38756000-38760400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:38756000-38760800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:38756000-38761400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:38756000-38762800	Weak transcription	Right Atrium	heart
15	chr2:38756600-38760000	Weak transcription	NHLF	lung
16	chr2:38756800-38762800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:38757000-38760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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