Variant report

Variant	rs6978489
Chromosome Location	chr7:80553680-80553681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10227876	0.85[ASN][1000 genomes]
rs10231831	0.85[ASN][1000 genomes]
rs10232696	0.85[ASN][1000 genomes]
rs10236574	0.85[ASN][1000 genomes]
rs10276784	0.85[ASN][1000 genomes]
rs11975194	0.85[ASN][1000 genomes]
rs12534660	0.90[ASN][1000 genomes]
rs17230494	0.86[ASN][1000 genomes]
rs2190239	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28674095	0.86[ASN][1000 genomes]
rs6467464	0.84[ASN][1000 genomes]
rs6969340	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6970479	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6976815	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs723581	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr7:80548400-80570000	Weak transcription	Gastric	stomach
2	chr7:80549200-80565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:80549400-80554400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr7:80549600-80553800	Enhancers	Fetal Intestine Small	intestine
5	chr7:80549600-80554000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr7:80549800-80553800	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:80550200-80553800	Enhancers	Stomach Mucosa	stomach
8	chr7:80551000-80556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:80551200-80554400	Enhancers	A549	lung
10	chr7:80551400-80553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:80551800-80554600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:80551800-80555000	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:80552200-80554600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:80552400-80553800	Enhancers	Fetal Kidney	kidney
15	chr7:80553400-80553800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:80553400-80554000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:80553600-80553800	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:80553600-80554000	Enhancers	Monocytes-CD14+_RO01746	blood

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

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