Variant report

Variant	rs7538408
Chromosome Location	chr1:193278498-193278499
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16835169	0.82[YRI][hapmap]
rs4657853	1.00[AMR][1000 genomes]
rs551862	0.84[AFR][1000 genomes]
rs56082148	1.00[AMR][1000 genomes]
rs56986460	0.80[AFR][1000 genomes]
rs6665739	0.81[YRI][hapmap]
rs6665751	0.81[YRI][hapmap]
rs6685973	1.00[AMR][1000 genomes]
rs74130938	0.80[AFR][1000 genomes]
rs74130939	0.80[AFR][1000 genomes]
rs74130950	1.00[AMR][1000 genomes]
rs74130964	1.00[AMR][1000 genomes]
rs7518409	0.82[YRI][hapmap]
rs7532263	1.00[AMR][1000 genomes]
rs7556154	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7556241	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs817134	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193255200-193280400	Weak transcription	HSMM	muscle
2	chr1:193276600-193283400	Enhancers	Fetal Intestine Small	intestine
3	chr1:193277000-193283400	Enhancers	Fetal Intestine Large	intestine
4	chr1:193277400-193279600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:193277800-193278600	Enhancers	Duodenum Mucosa	Duodenum

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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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