Variant report

Variant	rs56371910
Chromosome Location	chr17:46530731-46530732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46524023..46526457-chr17:46528439..46531393,2	K562	blood:
2	chr17:46523875..46525523-chr17:46528781..46531393,2	K562	blood:
3	chr17:46529355..46532196-chr17:46660157..46661823,2	K562	blood:
4	chr17:46529747..46531538-chr17:46533200..46534780,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10514944	0.89[AFR][1000 genomes]
rs1396869	0.92[ASN][1000 genomes]
rs16954324	0.87[AFR][1000 genomes]
rs16955960	1.00[AFR][1000 genomes]
rs16956001	0.89[AFR][1000 genomes]
rs16956501	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16957085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16957299	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17621689	0.89[AFR][1000 genomes]
rs17623125	0.89[AFR][1000 genomes]
rs17623416	0.89[AFR][1000 genomes]
rs17623518	1.00[AFR][1000 genomes]
rs17694092	0.89[AFR][1000 genomes]
rs17694168	0.89[AFR][1000 genomes]
rs17694670	0.89[AFR][1000 genomes]
rs2036521	0.89[AFR][1000 genomes]
rs2175156	1.00[AFR][1000 genomes]
rs2271264	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34463696	0.87[ASN][1000 genomes]
rs3809744	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55641965	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55751709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55765969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55912545	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56011283	0.84[ASN][1000 genomes]
rs56103412	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56311919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72825596	0.89[AFR][1000 genomes]
rs72827810	0.89[AFR][1000 genomes]
rs72827825	0.89[AFR][1000 genomes]
rs72827851	0.89[AFR][1000 genomes]
rs72827854	0.89[AFR][1000 genomes]
rs72827869	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827873	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72827897	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9899997	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9907565	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9913716	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46520600-46530800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:46527400-46530800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46527600-46530800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr17:46527600-46530800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr17:46527600-46530800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr17:46527800-46530800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr17:46528200-46530800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr17:46528200-46530800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:46528200-46530800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:46528800-46530800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:46528800-46535200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46529000-46535400	Enhancers	Fetal Thymus	thymus
13	chr17:46529200-46530800	Weak transcription	K562	blood
14	chr17:46529200-46532400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:46529200-46533800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:46529800-46532000	Enhancers	Dnd41	blood
17	chr17:46530000-46530800	Enhancers	Thymus	Thymus
18	chr17:46530000-46532800	Enhancers	Primary B cells from peripheral blood	blood
19	chr17:46530200-46530800	Enhancers	Primary B cells from cord blood	blood
20	chr17:46530400-46530800	Enhancers	GM12878-XiMat	blood
21	chr17:46530400-46531600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr17:46530400-46531600	Enhancers	Primary hematopoietic stem cells	blood
23	chr17:46530400-46532800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:46530600-46531000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr17:46530600-46531600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr17:46530600-46531800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr17:46530600-46531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:46530600-46532000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:46530600-46532000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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