Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:108099888-108103052	SK-N-SH	brain:	n/a	chr7:108102354-108102363 chr7:108100633-108100647 chr7:108100695-108100709 chr7:108099988-108100002 chr7:108100689-108100703 chr7:108100635-108100649 chr7:108100701-108100715
2	RAD21	chr7:108099865-108103108	SK-N-SH	brain:	n/a	chr7:108100590-108100609
3	SMC3	chr7:108099880-108100981	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr7:108100040-108100190	NB4	blood:	n/a	n/a
5	CTCF	chr7:108099809-108101415	SK-N-SH	brain:	n/a	chr7:108100979-108100987 chr7:108100609-108100617

No.	Distal block	Cell Line	Cell type
1	chr7:108090194..108091696-chr7:108099610..108101665,2	K562	blood:
2	chr7:108096966..108098629-chr7:108098766..108100630,2	MCF-7	breast:
3	chr7:107815446..107816950-chr7:108098576..108100096,2	MCF-7	breast:
4	chr7:107823921..107826218-chr7:108097722..108100120,2	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000091129	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10953572	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953573	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971386	0.80[EUR][1000 genomes]
rs11977071	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530879	0.80[EUR][1000 genomes]
rs12538539	0.80[EUR][1000 genomes]
rs12540029	0.80[EUR][1000 genomes]
rs13224588	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16872576	0.80[EUR][1000 genomes]
rs16872577	0.80[EUR][1000 genomes]
rs17134769	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35220845	0.80[EUR][1000 genomes]
rs35687881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752639	0.80[EUR][1000 genomes]
rs3763463	0.83[EUR][1000 genomes]
rs6964631	0.80[EUR][1000 genomes]
rs6980319	0.80[EUR][1000 genomes]
rs71568523	0.81[EUR][1000 genomes]
rs71568524	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71568525	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7786180	0.80[EUR][1000 genomes]
rs9641411	0.95[EUR][1000 genomes];0.89[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
2	chr7:108097800-108100400	Weak transcription	HUVEC	blood vessel
3	chr7:108097800-108101400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:108097800-108101600	Weak transcription	Pancreas	Pancrea
5	chr7:108097800-108103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:108098000-108101200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:108098200-108100400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:108100000-108100600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:108100000-108101000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:108100000-108101000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:108100000-108101400	Enhancers	A549	lung
13	chr7:108100000-108102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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