Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:127755171..127759390-chr7:127760267..127762582,4	K562	blood:
2	chr7:127749559..127751658-chr7:127755944..127759580,3	K562	blood:
3	chr7:127758182..127760933-chr7:128002720..128004852,2	K562	blood:
4	chr7:127752221..127755184-chr7:127757335..127759629,2	K562	blood:
5	chr7:127747173..127749516-chr7:127758374..127760292,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs124756	0.85[CHB][hapmap]
rs322735	0.80[EUR][1000 genomes]
rs322736	0.80[EUR][1000 genomes]
rs322737	0.81[EUR][1000 genomes]
rs322750	0.81[EUR][1000 genomes]
rs322753	0.82[EUR][1000 genomes]
rs322754	0.82[EUR][1000 genomes]
rs322764	0.82[EUR][1000 genomes]
rs322772	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322773	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322776	0.94[EUR][1000 genomes]
rs322813	0.85[CHB][hapmap]
rs322819	0.85[CHB][hapmap]
rs322820	0.81[CHB][hapmap]
rs322821	0.81[CHB][hapmap]
rs322823	0.85[CHB][hapmap]
rs322825	0.85[CHB][hapmap]
rs322826	0.81[CHB][hapmap]
rs322827	0.81[CHB][hapmap]
rs322828	0.81[CHB][hapmap]
rs322840	0.85[CHB][hapmap]
rs3779523	0.85[CHB][hapmap]
rs3808056	0.81[CHB][hapmap]

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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127753400-127762000	Weak transcription	Fetal Brain Female	brain
3	chr7:127756000-127761400	Weak transcription	Osteobl	bone
4	chr7:127756000-127762000	Weak transcription	HSMM	muscle
5	chr7:127756200-127761800	Weak transcription	Esophagus	oesophagus
6	chr7:127756600-127761200	Weak transcription	NHEK	skin
7	chr7:127756600-127761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:127757000-127759200	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:127757200-127760600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:127757200-127761000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:127757400-127759600	Enhancers	Fetal Thymus	thymus
12	chr7:127758000-127761000	Weak transcription	Spleen	Spleen
13	chr7:127758600-127761800	Weak transcription	Primary B cells from cord blood	blood
14	chr7:127758800-127759600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:127759000-127759600	Enhancers	Monocytes-CD14+_RO01746	blood

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