Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:180568988..180574820-chr1:180577415..180583388,9	K562	blood:
2	chr1:180568131..180570344-chr1:180571002..180574160,3	K562	blood:
3	chr1:180571961..180574651-chr1:180591825..180593823,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11806607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12066422	1.00[CHB][hapmap]
rs17301581	0.89[CEU][hapmap]
rs17301602	0.89[CEU][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap]
rs17373383	0.85[CEU][hapmap]
rs17373425	0.82[MEX][hapmap];0.83[TSI][hapmap]
rs17373501	0.89[CEU][hapmap]
rs17373660	0.88[CEU][hapmap]
rs61809278	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809279	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61809280	1.00[AFR][1000 genomes]
rs61809299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809302	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809309	1.00[AFR][1000 genomes]
rs61811194	1.00[AFR][1000 genomes]
rs61811196	1.00[AFR][1000 genomes]
rs6664966	0.89[CEU][hapmap]
rs6674012	0.89[CEU][hapmap]
rs72720984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519345	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180564800-180579600	Weak transcription	Right Atrium	heart
2	chr1:180568200-180579800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180569800-180575400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:180571000-180573400	Enhancers	Left Ventricle	heart
5	chr1:180572200-180573400	Enhancers	Fetal Heart	heart
6	chr1:180572400-180573400	Enhancers	Pancreas	Pancrea
7	chr1:180572400-180573400	Enhancers	Right Ventricle	heart
8	chr1:180572600-180573200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:180572600-180573800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:180572800-180573200	Enhancers	Esophagus	oesophagus
11	chr1:180572800-180573200	Enhancers	Fetal Intestine Small	intestine
12	chr1:180572800-180573400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:180572800-180573400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:180572800-180573400	Enhancers	Fetal Intestine Large	intestine
15	chr1:180572800-180573400	Enhancers	HMEC	breast
16	chr1:180573000-180573400	Enhancers	NHEK	skin
17	chr1:180573000-180573800	Enhancers	K562	blood

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