Variant report

Variant	rs16996319
Chromosome Location	chr4:93199511-93199512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:93190438..93192624-chr4:93198856..93200491,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10032054	1.00[EUR][1000 genomes]
rs10516907	1.00[EUR][1000 genomes]
rs13434458	1.00[EUR][1000 genomes]
rs17019093	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019094	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019180	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019183	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019231	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019254	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019288	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019321	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28455487	1.00[EUR][1000 genomes]
rs28620282	1.00[EUR][1000 genomes]
rs28691895	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28794296	1.00[EUR][1000 genomes]
rs28845266	1.00[EUR][1000 genomes]
rs59478298	1.00[EUR][1000 genomes]
rs59649102	1.00[EUR][1000 genomes]
rs6845812	1.00[EUR][1000 genomes]
rs7696416	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9884484	1.00[EUR][1000 genomes]
rs9997747	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594862	chr4:92392152-93222515	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv999961	chr4:92396538-93213898	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv537178	chr4:92396538-93213898	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530154	chr4:92396539-93359983	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv869490	chr4:92506402-93219336	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999701	chr4:92518040-93233556	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv537180	chr4:92518040-93233556	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1009960	chr4:92747531-93389054	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv470056	chr4:92837584-93322977	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv461587	chr4:92837584-93376231	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv594866	chr4:92837584-93376231	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv948712	chr4:93007985-93740409	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv879603	chr4:93053028-93276174	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv879604	chr4:93064187-93287744	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv830007	chr4:93101912-93317656	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv594868	chr4:93190198-93391251	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv998246	chr4:93198845-93350325	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93196400-93200000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr4:93197400-93200800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:93198400-93199800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:93198800-93200000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr4:93198800-93201000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:93198800-93201200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:93198800-93201200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:93199000-93200000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:93199400-93200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:93199400-93221800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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