Variant report

Variant	rs17128743
Chromosome Location	chr8:19486947-19486948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19481550..19484260-chr8:19486287..19488434,2	K562	blood:
2	chr8:19482760..19485283-chr8:19485806..19488434,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10087317	1.00[AMR][1000 genomes]
rs10087663	1.00[AMR][1000 genomes]
rs10088450	1.00[AMR][1000 genomes]
rs10094142	1.00[AMR][1000 genomes]
rs10096490	1.00[AMR][1000 genomes]
rs10096638	1.00[AMR][1000 genomes]
rs10097851	1.00[AMR][1000 genomes]
rs10101907	1.00[AMR][1000 genomes]
rs10104615	1.00[AMR][1000 genomes]
rs10104968	1.00[AMR][1000 genomes]
rs10106180	1.00[AMR][1000 genomes]
rs10106270	1.00[AMR][1000 genomes]
rs10107181	1.00[AMR][1000 genomes]
rs10109345	1.00[AMR][1000 genomes]
rs17128520	1.00[AMR][1000 genomes]
rs17128532	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17128535	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17128545	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17128641	1.00[AMR][1000 genomes]
rs17128662	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17128691	1.00[AMR][1000 genomes]
rs17128714	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17128745	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17128753	1.00[MEX][hapmap]
rs17128757	1.00[MEX][hapmap]
rs17128783	1.00[MEX][hapmap]
rs17128792	1.00[AMR][1000 genomes]
rs17128803	1.00[AMR][1000 genomes]
rs17128811	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs28415838	1.00[AMR][1000 genomes]
rs28427117	1.00[AMR][1000 genomes]
rs28457744	1.00[AMR][1000 genomes]
rs28491635	1.00[AMR][1000 genomes]
rs28578312	1.00[AMR][1000 genomes]
rs28607676	1.00[AMR][1000 genomes]
rs28654443	1.00[AMR][1000 genomes]
rs28661517	1.00[AMR][1000 genomes]
rs28713671	1.00[AMR][1000 genomes]
rs28738093	1.00[AMR][1000 genomes]
rs28742998	1.00[AMR][1000 genomes]
rs7005354	1.00[AMR][1000 genomes]
rs7817946	1.00[AMR][1000 genomes]
rs7821215	1.00[AMR][1000 genomes]
rs7821389	1.00[AMR][1000 genomes]
rs7821612	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7824941	1.00[AMR][1000 genomes]
rs7839912	1.00[AMR][1000 genomes]
rs7840172	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7843893	1.00[AMR][1000 genomes]
rs9325858	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19481400-19489800	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:19481600-19489400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:19481800-19487400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:19482800-19488000	Weak transcription	Thymus	Thymus
6	chr8:19483200-19492600	Weak transcription	Right Ventricle	heart
7	chr8:19483200-19495600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:19483200-19495600	Weak transcription	Right Atrium	heart
9	chr8:19483400-19495200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:19484600-19487000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:19484800-19488200	Weak transcription	Primary T cells from cord blood	blood
12	chr8:19484800-19491000	Weak transcription	Fetal Lung	lung
13	chr8:19484800-19494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:19485400-19487200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:19485400-19489800	Weak transcription	NHDF-Ad	bronchial
16	chr8:19485400-19499200	Weak transcription	Placenta	Placenta
17	chr8:19485400-19500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:19485800-19487000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:19485800-19487600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:19486000-19489800	Weak transcription	Left Ventricle	heart
21	chr8:19486000-19491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:19486000-19492600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:19486200-19489400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:19486200-19489600	Weak transcription	Hela-S3	cervix
25	chr8:19486200-19490400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:19486400-19487000	Enhancers	A549	lung
27	chr8:19486400-19487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:19486400-19487800	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:19486400-19489000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:19486400-19490400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:19486600-19487000	Enhancers	GM12878-XiMat	blood
32	chr8:19486600-19491200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:19486800-19487400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:19486800-19487600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:19486800-19488400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:19486800-19488800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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