Variant report

Variant	rs2369726
Chromosome Location	chr1:160587768-160587769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160583254..160585233-chr1:160585992..160588888,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1061217	0.89[ASN][1000 genomes]
rs10752638	0.89[ASN][1000 genomes]
rs10797083	0.88[ASN][1000 genomes]
rs10908789	0.82[ASN][1000 genomes]
rs10908794	0.88[ASN][1000 genomes]
rs10908796	0.89[ASN][1000 genomes]
rs11265442	0.83[ASN][1000 genomes]
rs11265444	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11265449	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11265451	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046687	0.81[EUR][1000 genomes]
rs12048466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402879	0.80[ASN][1000 genomes]
rs12736781	0.82[ASN][1000 genomes]
rs1394079	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1604783	0.88[ASN][1000 genomes]
rs2089088	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102226	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427535	0.89[ASN][1000 genomes]
rs6668760	0.80[ASN][1000 genomes]
rs6692382	0.80[ASN][1000 genomes]
rs7526815	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7534679	0.80[ASN][1000 genomes]
rs927202	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160576200-160591400	Weak transcription	Spleen	Spleen
2	chr1:160576800-160591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:160577000-160590800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:160579000-160589400	Strong transcription	GM12878-XiMat	blood
5	chr1:160579800-160593200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:160582200-160591800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:160584400-160589800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:160584400-160594600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:160584800-160591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:160585200-160592400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:160585400-160589800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:160585600-160594800	Weak transcription	K562	blood
13	chr1:160585800-160588000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:160585800-160588000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:160586000-160588200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:160586000-160588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:160586000-160588800	Strong transcription	Thymus	Thymus
18	chr1:160586600-160588600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:160586800-160589600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:160587200-160588800	Genic enhancers	Primary T cells from cord blood	blood
21	chr1:160587400-160587800	Enhancers	Dnd41	blood
22	chr1:160587400-160588000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:160587400-160588200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:160587400-160589000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:160587400-160590400	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr1:160587400-160598400	Genic enhancers	Fetal Thymus	thymus
27	chr1:160587600-160588400	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr1:160587600-160589200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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