Variant report

Variant	rs791612
Chromosome Location	chr7:127875228-127875229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17151913	0.89[YRI][hapmap]
rs28954090	0.97[AFR][1000 genomes]
rs3793162	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4728084	1.00[GIH][hapmap]
rs4728085	1.00[GIH][hapmap]
rs6956510	0.90[AFR][1000 genomes]
rs712721	0.96[AFR][1000 genomes]
rs7796202	0.95[AFR][1000 genomes]
rs791611	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs791614	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127844000-127875600	Weak transcription	Right Atrium	heart
2	chr7:127868400-127876800	Weak transcription	HSMMtube	muscle
3	chr7:127870200-127875400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127870400-127875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:127870400-127875600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:127874000-127875800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:127874000-127876000	Weak transcription	HMEC	breast
8	chr7:127874000-127876200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:127874200-127876200	Weak transcription	NHEK	skin
10	chr7:127874400-127876400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:127874400-127877600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:127874600-127877200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr7:127874800-127877200	Enhancers	Adipose Nuclei	Adipose
14	chr7:127875000-127875800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:127875000-127876400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:127875200-127875600	Enhancers	Primary B cells from cord blood	blood
17	chr7:127875200-127876200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:127875200-127876400	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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