Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165256968..165259442-chr1:165261760..165264725,2	K562	blood:
2	chr1:165127148..165129651-chr1:165256617..165259392,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10494442	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs10918144	1.00[CHB][hapmap]
rs10918145	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[MEX][hapmap]
rs11807536	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12135437	0.85[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs12405561	0.85[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs1343554	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs16841924	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17404691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1811714	0.85[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4361970	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs55743629	0.93[ASN][1000 genomes]
rs56820548	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58462518	0.81[AMR][1000 genomes]
rs59974691	0.91[ASN][1000 genomes]
rs6677100	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7518895	0.81[ASN][1000 genomes]
rs7519089	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs7528111	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7540476	0.80[TSI][hapmap]

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	nsv869712	chr1:164866810-165299085	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12404307	KCNJ10	cis	parietal	SCAN
rs12404307	SLAMF1	cis	cerebellum	SCAN
rs12404307	B4GALT3	cis	parietal	SCAN
rs12404307	CREG1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165253600-165258200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr1:165254600-165258800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:165254800-165258800	Enhancers	Liver	Liver
4	chr1:165255600-165258200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr1:165256400-165258200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165256400-165258200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:165256800-165258200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:165256800-165258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:165257200-165258200	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr1:165257400-165258200	Enhancers	Adipose Nuclei	Adipose
11	chr1:165257400-165258200	Enhancers	Fetal Brain Male	brain
12	chr1:165257600-165258400	Enhancers	HSMMtube	muscle
13	chr1:165257800-165258200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:165257800-165258400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:165258000-165258200	Active TSS	A549	lung
16	chr1:165258000-165258600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:165258000-165259000	Enhancers	Fetal Muscle Trunk	muscle

Quick Search: