Variant report

Variant	rs7544592
Chromosome Location	chr1:97298193-97298194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10875036	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075951	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12076685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12087029	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1966	chr1:97287841-97332500	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97267400-97300800	Weak transcription	Fetal Stomach	stomach
2	chr1:97272200-97301400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:97279400-97299400	Weak transcription	Primary T cells from cord blood	blood
4	chr1:97279400-97303400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:97279800-97306000	Weak transcription	Fetal Kidney	kidney
6	chr1:97280600-97303400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:97282200-97299800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:97282600-97308400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:97282800-97298400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:97283200-97302200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:97286400-97298600	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:97286600-97300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:97286600-97302200	Weak transcription	NHDF-Ad	bronchial
14	chr1:97286600-97302800	Weak transcription	Fetal Lung	lung
15	chr1:97286600-97303200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:97288000-97305400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:97288600-97300200	Weak transcription	HUVEC	blood vessel
18	chr1:97291400-97302600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:97291800-97301400	Weak transcription	HSMM	muscle
20	chr1:97292000-97308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:97292200-97301400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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