Variant report

Variant	rs322784
Chromosome Location	chr7:127756140-127756141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127745939..127747505-chr7:127754984..127756729,2	K562	blood:
2	chr7:127755171..127759390-chr7:127760267..127762582,4	K562	blood:
3	chr7:127749559..127751658-chr7:127755944..127759580,3	K562	blood:
4	chr7:127753827..127756427-chr7:127766047..127767569,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs178733	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs184430	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322738	0.83[ASN][1000 genomes]
rs322752	0.80[ASN][1000 genomes]
rs322755	0.80[EUR][1000 genomes]
rs322756	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322760	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322761	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322762	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322765	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322766	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322768	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322770	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322771	0.88[ASN][1000 genomes]
rs322775	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322778	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322780	0.97[ASN][1000 genomes]
rs322782	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322783	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322785	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322786	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322787	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322790	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322791	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322806	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322807	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322808	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322809	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322811	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322812	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322815	0.80[AMR][1000 genomes]
rs322818	0.93[ASN][1000 genomes]
rs5028619	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6960004	0.92[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127753400-127757200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:127753400-127757400	Weak transcription	Fetal Thymus	thymus
4	chr7:127753400-127762000	Weak transcription	Fetal Brain Female	brain
5	chr7:127753800-127757200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:127754600-127756800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:127755000-127756200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:127755000-127756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:127755000-127756400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:127755000-127757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:127755200-127756200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:127755200-127756400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr7:127755200-127756400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:127755200-127756600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:127755200-127756600	Enhancers	HMEC	breast
16	chr7:127755200-127757200	Enhancers	Placenta	Placenta
17	chr7:127755400-127756200	Enhancers	NHDF-Ad	bronchial
18	chr7:127755400-127756600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:127755400-127756800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:127755600-127756200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:127755600-127758000	Enhancers	Spleen	Spleen
22	chr7:127755800-127756200	Enhancers	Esophagus	oesophagus
23	chr7:127755800-127756200	Enhancers	HSMMtube	muscle
24	chr7:127755800-127756800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:127756000-127756200	Enhancers	Lung	lung
26	chr7:127756000-127756600	Enhancers	NHEK	skin
27	chr7:127756000-127756800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr7:127756000-127759000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:127756000-127761400	Weak transcription	Osteobl	bone
30	chr7:127756000-127762000	Weak transcription	HSMM	muscle

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