Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108191362..108206184-chr7:108206645..108216261,27	K562	blood:
2	chr7:108193337..108196664-chr7:108198034..108202692,4	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10156002	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10253210	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10270723	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10282368	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1043615	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17426315	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041003	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072212	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34668718	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40911	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40913	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40916	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40918	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs40922	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40927	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40933	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40937	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40943	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730324	0.81[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs40930	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108189000-108196800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:108190200-108201400	Weak transcription	HSMMtube	muscle
3	chr7:108191400-108204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:108191600-108196800	Weak transcription	Ovary	ovary
5	chr7:108191800-108197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:108192000-108196800	Weak transcription	Brain Substantia Nigra	brain
7	chr7:108192800-108196200	Enhancers	Primary B cells from cord blood	blood
8	chr7:108192800-108196600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:108193000-108196400	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:108195600-108208400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

Quick Search: