Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74367543..74369740-chr1:74373309..74376107,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10493526	0.83[EUR][1000 genomes]
rs10493528	0.86[EUR][1000 genomes]
rs11210367	0.84[EUR][1000 genomes]
rs11210368	0.84[EUR][1000 genomes]
rs11210369	0.84[EUR][1000 genomes]
rs11210370	0.84[EUR][1000 genomes]
rs11210372	0.84[EUR][1000 genomes]
rs12062996	0.84[EUR][1000 genomes]
rs12076161	0.84[EUR][1000 genomes]
rs12077198	0.84[EUR][1000 genomes]
rs12081389	0.84[EUR][1000 genomes]
rs12082647	0.84[EUR][1000 genomes]
rs12096018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120978	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137774	0.86[EUR][1000 genomes]
rs12138557	0.80[EUR][1000 genomes]
rs1340434	1.00[EUR][1000 genomes]
rs17521189	0.84[EUR][1000 genomes]
rs1768649	0.84[EUR][1000 genomes]
rs1768652	0.84[EUR][1000 genomes]
rs2733260	0.84[EUR][1000 genomes]
rs2803131	0.81[EUR][1000 genomes]
rs7544238	0.85[EUR][1000 genomes]
rs7544252	0.84[EUR][1000 genomes]
rs7550937	0.84[EUR][1000 genomes]
rs9660534	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1398	chr1:74353390-74398380	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2763561	chr1:74362009-74396896	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11210366	FPGT	cis	cerebellum	SCAN
rs11210366	TNNI3K	cis	parietal	SCAN
rs11210366	TNNI3K	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74365800-74367600	Weak transcription	Dnd41	blood
2	chr1:74365800-74368800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:74365800-74368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:74367000-74368400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:74367000-74369000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:74367200-74367800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:74367200-74367800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:74367200-74367800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:74367200-74368000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:74367200-74368000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:74367200-74368200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:74367200-74368600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:74367400-74367800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:74367400-74367800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:74367400-74367800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:74367400-74367800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

Quick Search: