Variant report

Variant	rs609205
Chromosome Location	chr6:147837653-147837654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1631864	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1789698	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs472577	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4896920	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs494395	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs540384	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs607474	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs623379	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs666217	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66812182	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs669830	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6923561	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73020122	0.96[AMR][1000 genomes];0.94[EUR][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	nsv604841	chr6:147832156-148193929	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1020247	chr6:147834097-148478053	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147831400-147838800	Weak transcription	Esophagus	oesophagus
2	chr6:147831600-147852000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:147832000-147839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:147832400-147844600	Weak transcription	HSMMtube	muscle
5	chr6:147832400-147851200	Weak transcription	Fetal Stomach	stomach
6	chr6:147832400-147851800	Weak transcription	Fetal Kidney	kidney
7	chr6:147832600-147851200	Weak transcription	Fetal Lung	lung
8	chr6:147833000-147844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:147835400-147840200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:147835400-147848200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:147836600-147838200	Strong transcription	Liver	Liver
12	chr6:147836600-147838800	Strong transcription	Fetal Intestine Large	intestine
13	chr6:147836800-147837800	Weak transcription	Ovary	ovary
14	chr6:147837200-147841800	Strong transcription	HSMM	muscle
15	chr6:147837400-147856400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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