Variant report

Variant	rs4421336
Chromosome Location	chr8:125344075-125344076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125337424..125341244-chr8:125341867..125344494,3	K562	blood:
2	chr8:125342566..125344974-chr8:125348992..125350712,2	K562	blood:
3	chr8:125343485..125345851-chr8:125355810..125358693,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10110968	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10464864	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12674575	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12674701	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4257990	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4286934	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4512364	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4527851	0.85[EUR][1000 genomes]
rs4871486	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4871488	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6984232	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6985308	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6991465	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6993858	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6997326	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7002456	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7010910	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7386298	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7819902	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7832694	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7841552	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
3	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:125332600-125348000	Weak transcription	Primary B cells from cord blood	blood
5	chr8:125332800-125346000	Weak transcription	Hela-S3	cervix
6	chr8:125333800-125345800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:125334000-125345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:125334000-125345800	Weak transcription	HMEC	breast
9	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
10	chr8:125336800-125347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:125338000-125345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:125338000-125347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:125338400-125346000	Weak transcription	A549	lung
14	chr8:125339200-125344400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:125339200-125347000	Weak transcription	Primary T cells from cord blood	blood
16	chr8:125339400-125344600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:125340000-125346000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:125343200-125344800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:125343400-125345600	Weak transcription	Fetal Heart	heart

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