Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:75661896..75664884-chr5:75666923..75670034,3	K562	blood:
2	chr5:75663384..75665585-chr5:75666962..75670034,4	K562	blood:
3	chr5:75657897..75659755-chr5:75662436..75665330,2	K562	blood:
4	chr5:75659843..75661424-chr5:75663559..75666262,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs192196	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455429	0.81[EUR][1000 genomes]
rs246784	1.00[CEU][hapmap];0.83[MEX][hapmap];0.90[EUR][1000 genomes]
rs246785	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972864	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972865	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972866	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372733	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235697	0.91[EUR][1000 genomes]
rs4703706	0.86[EUR][1000 genomes]
rs4704307	0.94[EUR][1000 genomes];1.00[ASN][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs246789	CMYA5	cis	cerebellum	SCAN
rs246789	GFM2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75660200-75667800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:75660200-75667800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:75660200-75668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:75660400-75666200	Enhancers	K562	blood
5	chr5:75660400-75667800	Weak transcription	HepG2	liver
6	chr5:75660400-75668000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:75661800-75664600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:75661800-75664600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:75662000-75664800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:75662600-75664000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:75663000-75667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:75663400-75664400	Enhancers	GM12878-XiMat	blood
13	chr5:75663600-75663800	Enhancers	Spleen	Spleen
14	chr5:75663600-75664000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:75663600-75664200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:75663600-75664200	Enhancers	NHEK	skin
17	chr5:75663600-75664400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:75663600-75664400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:75663600-75664400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:75663600-75665000	Enhancers	Primary hematopoietic stem cells short term culture	blood

Quick Search: