Variant report

Variant	rs72745140
Chromosome Location	chr1:194028312-194028313
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	chr1:194026694..194028807-chr1:194030753..194032744,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10921491	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12124021	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1372643	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2584257	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2895663	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs509469	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs511374	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs624023	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs627525	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs634899	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs637225	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs651794	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs665903	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs685287	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7417488	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9783003	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9943193	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9943194	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv467016	chr1:194022818-194037890	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv548665	chr1:194022818-194037890	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194020400-194030800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr1:194020800-194030800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:194022200-194030600	Enhancers	Primary T cells from cord blood	blood
4	chr1:194022200-194030800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:194022400-194029600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:194022400-194030800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:194024600-194030600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:194025200-194029200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:194025800-194029200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:194026200-194031000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:194026200-194031600	Weak transcription	Right Atrium	heart
12	chr1:194027000-194028800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:194027000-194029400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:194027200-194030600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:194027400-194028800	Weak transcription	Thymus	Thymus
16	chr1:194027600-194028800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:194027600-194029000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:194027600-194029200	Weak transcription	HUVEC	blood vessel
19	chr1:194027600-194029400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:194028000-194029200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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