Variant report

Variant	rs317219
Chromosome Location	chr8:2144195-2144196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7005235	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers 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 miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2138600-2146800	Weak transcription	Fetal Brain Male	brain
2	chr8:2139800-2147800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr8:2140400-2144600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:2141200-2147800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr8:2141400-2144600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr8:2141400-2144800	Enhancers	Primary T cells from cord blood	blood
7	chr8:2141600-2144800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:2141800-2144200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:2141800-2145800	Weak transcription	Thymus	Thymus
10	chr8:2141800-2147000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:2142000-2147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:2142800-2146200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:2143000-2148400	Enhancers	Fetal Thymus	thymus
14	chr8:2143600-2144600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:2143600-2146000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:2143800-2144200	Enhancers	Dnd41	blood
17	chr8:2144000-2145400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:2144000-2145400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:2144000-2150600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	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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