Variant report

Variant	rs1992475
Chromosome Location	chr1:194024891-194024892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1442423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1442424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2119858	0.81[AFR][1000 genomes]
rs611875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs658005	1.00[AMR][1000 genomes]
rs684854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7540373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546706	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv275445	chr1:194021985-194026943	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv467016	chr1:194022818-194037890	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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:26 , 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	chr1:194021200-194027600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:194022200-194025600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:194022200-194030600	Enhancers	Primary T cells from cord blood	blood
6	chr1:194022200-194030800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:194022400-194025000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:194022400-194025200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:194022400-194025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:194022400-194025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:194022400-194025200	Weak transcription	Stomach Mucosa	stomach
12	chr1:194022400-194027600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:194022400-194029600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:194022400-194030800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:194023400-194027000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:194023800-194025800	Enhancers	Fetal Heart	heart
17	chr1:194024600-194026600	Enhancers	Fetal Thymus	thymus
18	chr1:194024600-194027400	Enhancers	Thymus	Thymus
19	chr1:194024600-194030600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:194024800-194025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:194024800-194025400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:194024800-194025400	Flanking Active TSS	Fetal Lung	lung
23	chr1:194024800-194025600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:194024800-194025600	Enhancers	Small Intestine	intestine
25	chr1:194024800-194025800	Enhancers	Liver	Liver
26	chr1:194024800-194026200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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