Variant report

Variant	rs11979987
Chromosome Location	chr7:128351973-128351974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128349572..128352222-chr7:128352293..128355252,3	MCF-7	breast:
2	chr7:128346113..128353140-chr7:128377714..128381349,8	K562	blood:
3	chr7:128351018..128352882-chr7:128354174..128355732,2	K562	blood:
4	chr7:128350704..128354157-chr7:128498864..128501415,3	K562	blood:
5	chr7:128351405..128353237-chr7:128393080..128396026,2	K562	blood:
6	chr7:128350382..128352686-chr7:128356502..128358427,2	K562	blood:
7	chr7:128351186..128353763-chr7:128356302..128358427,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11972335	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11972414	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11973846	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12668292	0.81[ASN][1000 genomes]
rs12672216	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1450875	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402932	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55854844	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56010148	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62481947	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73236051	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11979987	RP11-274B21.1	cis	lung	GTEx
rs11979987	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs11979987	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs11979987	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128346400-128353400	Weak transcription	HMEC	breast
3	chr7:128346400-128354000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:128346600-128353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:128349000-128354800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:128349400-128352600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:128351000-128352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:128351000-128353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:128351000-128354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:128351200-128355000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:128351600-128353400	Weak transcription	NHEK	skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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