Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr7:39771723-39771803	K562	blood:	n/a	n/a
2	RFX5	chr7:39771696-39773844	K562	blood:	n/a	chr7:39773044-39773059
3	RFX5	chr7:39771749-39774166	Hela-S3	cervix:	n/a	chr7:39773044-39773059
4	RFX5	chr7:39770401-39774670	SK-N-SH	brain:	n/a	chr7:39773044-39773059
5	RFX5	chr7:39770755-39774653	IMR90	lung:	n/a	chr7:39773044-39773059
6	RFX5	chr7:39771773-39771888	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39660619..39666370-chr7:39771379..39777121,13	MCF-7	breast:
2	chr7:39661063..39664836-chr7:39769831..39775766,6	MCF-7	breast:
3	chr7:39744986..39746903-chr7:39768922..39771853,2	K562	blood:

Variant related genes	Relation type
LINC00265	TF binding region
ENSG00000006451	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10231409	0.84[EUR][1000 genomes]
rs10486802	0.87[EUR][1000 genomes]
rs11770964	0.86[EUR][1000 genomes]
rs12666517	0.87[EUR][1000 genomes]
rs12668645	0.88[EUR][1000 genomes]
rs17508585	0.83[EUR][1000 genomes]
rs2107707	0.83[EUR][1000 genomes]
rs34821005	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6462943	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7796021	0.88[EUR][1000 genomes]
rs7799721	0.82[EUR][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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62454689	LINC00265	cis	Thyroid	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39763000-39772400	Weak transcription	Right Atrium	heart
2	chr7:39764800-39771800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:39766400-39772000	Weak transcription	K562	blood
4	chr7:39767800-39771800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:39768000-39771800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:39768000-39771800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:39771000-39772600	Enhancers	Spleen	Spleen
8	chr7:39771200-39772400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:39771200-39772400	Enhancers	Right Ventricle	heart
10	chr7:39771400-39772400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:39771400-39772400	Weak transcription	Lung	lung
12	chr7:39771600-39771800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:39771600-39772200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:39771600-39772200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:39771600-39772200	Enhancers	Fetal Muscle Trunk	muscle
16	chr7:39771600-39772400	Enhancers	Primary B cells from cord blood	blood
17	chr7:39771600-39772400	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:39771600-39772400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:39771600-39772400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:39771600-39772400	Enhancers	Fetal Muscle Leg	muscle
21	chr7:39771600-39772400	Enhancers	GM12878-XiMat	blood

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