Variant report

Variant	rs7544512
Chromosome Location	chr1:224648576-224648577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10799575	0.87[AFR][1000 genomes]
rs1573088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426124	0.87[AFR][1000 genomes]
rs6426127	0.89[AFR][1000 genomes]
rs6660212	0.87[AFR][1000 genomes]
rs6694310	0.87[AFR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224628400-224648800	Weak transcription	Fetal Brain Female	brain
2	chr1:224628600-224653600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:224643400-224649000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:224644800-224651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:224645000-224649200	Weak transcription	Esophagus	oesophagus
6	chr1:224645000-224649200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:224645400-224652000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:224645400-224653400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:224645400-224653400	Weak transcription	GM12878-XiMat	blood
10	chr1:224645400-224656200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:224645800-224650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:224647600-224651400	Weak transcription	Fetal Brain Male	brain
13	chr1:224647800-224649000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:224647800-224650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:224647800-224650800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:224647800-224650800	Weak transcription	Ovary	ovary
17	chr1:224648200-224649800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:224648400-224652800	Weak transcription	K562	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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