Variant report

Variant	rs6888990
Chromosome Location	chr5:80321026-80321027
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	chr5:80280624..80283430-chr5:80318817..80321662,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13162418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173028	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187484	1.00[CHB][hapmap]
rs13189599	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878414	0.82[CEU][hapmap]
rs17211275	1.00[CEU][hapmap]
rs17213955	1.00[CHB][hapmap]
rs17228156	1.00[CHB][hapmap]
rs35961131	1.00[ASN][1000 genomes]
rs6869328	0.82[CEU][hapmap]
rs9968731	1.00[CHB][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80311600-80323800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr5:80311600-80325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:80312200-80323600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:80316800-80322800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:80317400-80321200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:80317400-80321400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr5:80318600-80322800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:80318600-80323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:80319600-80324200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:80319600-80374200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:80319800-80322000	Weak transcription	HepG2	liver
12	chr5:80319800-80323200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:80319800-80326400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:80320000-80323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:80320000-80323800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:80320600-80321400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:80320600-80321400	Enhancers	Fetal Lung	lung
18	chr5:80320800-80321200	Enhancers	Fetal Stomach	stomach
19	chr5:80320800-80321400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:80321000-80321200	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:80321000-80321200	Bivalent Enhancer	Left Ventricle	heart
22	chr5:80321000-80321400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:80321000-80322000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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