Variant report

Variant	rs2233924
Chromosome Location	chr1:212870410-212870411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212779956..212785175-chr1:212870276..212874748,7	K562	blood:
2	chr1:212862725..212865648-chr1:212866510..212870807,5	K562	blood:
3	chr1:212866207..212868017-chr1:212869648..212871238,2	K562	blood:
4	chr1:212790623..212792984-chr1:212868720..212871202,2	K562	blood:
5	chr1:212865556..212867815-chr1:212870063..212872235,2	MCF-7	breast:
6	chr1:212779956..212783547-chr1:212870276..212874584,4	K562	blood:
7	chr1:212860743..212863058-chr1:212869735..212872128,3	K562	blood:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17019567	0.80[ASN][1000 genomes]
rs17019573	0.80[EUR][1000 genomes]
rs3754481	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60010447	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74141114	0.92[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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr1:212857200-212871600	Weak transcription	Dnd41	blood
2	chr1:212858600-212872200	Weak transcription	Gastric	stomach
3	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
4	chr1:212862600-212871600	Weak transcription	NHLF	lung
5	chr1:212863400-212872200	Weak transcription	Spleen	Spleen
6	chr1:212865600-212871000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:212866800-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:212867000-212872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:212867200-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:212869400-212872000	Weak transcription	Right Atrium	heart
11	chr1:212869600-212870600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:212869800-212871000	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:212869800-212871000	Bivalent Enhancer	K562	blood
14	chr1:212870000-212872600	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:212870200-212870800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:212870200-212872200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:212870400-212871200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr1:212870400-212872000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:212870400-212872000	Enhancers	Primary T helper memory cells from peripheral blood 1	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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