Variant report

Variant	rs16840031
Chromosome Location	chr1:158218370-158218371
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158212629..158214182-chr1:158216641..158218801,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10489821	0.85[JPT][hapmap]
rs12565919	0.83[ASN][1000 genomes]
rs12723141	0.85[JPT][hapmap]
rs16840041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2269714	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2269715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2269716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2269717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136533	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3138107	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs3181031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41516545	0.83[ASN][1000 genomes]
rs61818716	0.90[ASN][1000 genomes]
rs6660005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859009	0.84[JPT][hapmap]
rs859010	0.85[JPT][hapmap]

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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv508626	chr1:158161932-158242158	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1845799	chr1:158175976-158230829	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158216400-158222400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:158216600-158218800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:158216600-158218800	Enhancers	GM12878-XiMat	blood
4	chr1:158216600-158219000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:158216600-158219200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:158216600-158220200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:158216600-158221200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:158216800-158219200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:158217000-158218600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:158217000-158220600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:158217200-158218800	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:158217200-158218800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:158217200-158218800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:158217200-158219000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:158217400-158218800	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:158217400-158219200	Flanking Active TSS	Fetal Thymus	thymus
17	chr1:158217400-158219200	Flanking Active TSS	Thymus	Thymus
18	chr1:158217400-158219400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:158217400-158220600	Flanking Active TSS	Dnd41	blood
20	chr1:158217600-158218400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:158217600-158218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:158217600-158219000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr1:158217600-158219000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:158217600-158219400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:158217800-158218400	Enhancers	Liver	Liver
26	chr1:158217800-158218600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:158217800-158218800	Enhancers	Placenta	Placenta
28	chr1:158217800-158219200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:158218200-158218400	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr1:158218200-158218600	Enhancers	Primary T cells from cord blood	blood
31	chr1:158218200-158218800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:158218200-158219600	Weak transcription	Spleen	Spleen

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