Variant report

Variant	rs61249342
Chromosome Location	chr8:20151943-20151944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20144491..20147216-chr8:20149456..20152230,2	K562	blood:
2	chr8:20150954..20153535-chr8:20155621..20157148,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1026962	1.00[AMR][1000 genomes]
rs17092255	1.00[AMR][1000 genomes]
rs17092285	1.00[AMR][1000 genomes]
rs59942399	1.00[AMR][1000 genomes]
rs60403480	1.00[AMR][1000 genomes]
rs6981718	1.00[AMR][1000 genomes]
rs6985545	1.00[AMR][1000 genomes]
rs7813418	1.00[AMR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv890644	chr8:20138477-20162213	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20144200-20154800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:20145800-20155000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:20146000-20152000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:20146200-20152000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:20147400-20152600	Weak transcription	Right Atrium	heart
6	chr8:20147600-20153400	Weak transcription	Fetal Brain Male	brain
7	chr8:20148600-20152400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:20148600-20160400	Weak transcription	Ovary	ovary
9	chr8:20149000-20152600	Weak transcription	Fetal Brain Female	brain
10	chr8:20149000-20153600	Weak transcription	NHLF	lung
11	chr8:20149800-20154800	Weak transcription	Primary T cells from cord blood	blood
12	chr8:20150000-20152200	Weak transcription	Brain Anterior Caudate	brain
13	chr8:20150000-20156400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:20150200-20158800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:20150800-20153800	Enhancers	Fetal Thymus	thymus
16	chr8:20151000-20152000	Weak transcription	Brain Germinal Matrix	brain
17	chr8:20151000-20154600	Genic enhancers	Dnd41	blood
18	chr8:20151200-20152000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:20151200-20153200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:20151200-20153800	Enhancers	Fetal Muscle Leg	muscle
21	chr8:20151200-20154200	Enhancers	HMEC	breast
22	chr8:20151200-20157200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:20151400-20153200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:20151400-20153800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:20151400-20154600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:20151600-20152000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:20151600-20152400	Enhancers	HSMM	muscle
28	chr8:20151600-20153200	Enhancers	HSMMtube	muscle
29	chr8:20151800-20152000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:20151800-20152200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr8:20151800-20152600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:20151800-20152600	Enhancers	Thymus	Thymus
33	chr8:20151800-20152800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:20151800-20152800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr8:20151800-20154200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:20151800-20154400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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