Variant report

Variant	rs4129817
Chromosome Location	chr6:45288032-45288033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10456551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11962735	0.86[AFR][1000 genomes]
rs17209755	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45275200-45290200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:45276800-45290400	Weak transcription	Fetal Heart	heart
3	chr6:45279000-45288400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:45280000-45290600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:45280600-45289200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:45280600-45290400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:45281000-45288200	Weak transcription	Dnd41	blood
8	chr6:45281200-45288200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:45285600-45290200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:45285600-45295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:45288000-45288200	Enhancers	Left Ventricle	heart
12	chr6:45288000-45288400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:45288000-45288400	ZNF genes & repeats	Esophagus	oesophagus
14	chr6:45288000-45288600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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