Variant report

Variant	rs72799402
Chromosome Location	chr16:69596939-69596940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr16:69596744-69597102	HepG2	liver:	n/a	chr16:69596915-69596933
2	MAFK	chr16:69596760-69597061	K562	blood:	n/a	chr16:69596916-69596931
3	MAFK	chr16:69596737-69597109	HepG2	liver:	n/a	chr16:69596916-69596931
4	MAFK	chr16:69596743-69597104	IMR90	lung:	n/a	chr16:69596916-69596931
5	MAFK	chr16:69596752-69597062	Hela-S3	cervix:	n/a	chr16:69596916-69596931
6	MAFK	chr16:69596742-69597099	HepG2	liver:	n/a	chr16:69596916-69596931
7	MAFF	chr16:69596751-69597097	K562	blood:	n/a	chr16:69596915-69596933
8	MAFK	chr16:69596747-69597062	H1-hESC	embryonic stem cell:	n/a	chr16:69596916-69596931

No.	Distal block	Cell Line	Cell type
1	chr16:69564049..69566185-chr16:69596173..69597747,2	K562	blood:
2	chr16:69594312..69598088-chr16:69599642..69602229,6	MCF-7	breast:
3	chr16:69431073..69434023-chr16:69595294..69598731,3	MCF-7	breast:
4	chr16:69590898..69593139-chr16:69596176..69598406,3	MCF-7	breast:
5	chr16:69574360..69576060-chr16:69595283..69597166,2	MCF-7	breast:

Variant related genes	Relation type
NFAT5	TF binding region
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11863900	1.00[ASN][1000 genomes]
rs11864904	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437137	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958951	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958953	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230557	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230612	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231138	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231474	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297088	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297207	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298718	1.00[ASN][1000 genomes]
rs45564335	1.00[ASN][1000 genomes]
rs55844704	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000913	1.00[ASN][1000 genomes]
rs56043436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073658	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105992	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	1.00[ASN][1000 genomes]
rs56170853	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171157	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221028	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62057900	1.00[ASN][1000 genomes]
rs6499230	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499238	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689453	1.00[ASN][1000 genomes]
rs689454	1.00[ASN][1000 genomes]
rs689461	1.00[ASN][1000 genomes]
rs7190756	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193205	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72783105	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783116	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783117	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783118	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783119	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783121	1.00[ASN][1000 genomes]
rs72783128	1.00[ASN][1000 genomes]
rs72783158	1.00[ASN][1000 genomes]
rs72783160	1.00[ASN][1000 genomes]
rs72783163	1.00[ASN][1000 genomes]
rs72783165	1.00[ASN][1000 genomes]
rs72783174	1.00[ASN][1000 genomes]
rs72783183	1.00[ASN][1000 genomes]
rs72783184	1.00[ASN][1000 genomes]
rs72799373	1.00[ASN][1000 genomes]
rs72799378	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799379	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799381	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799385	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799386	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799387	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799393	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799394	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799398	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799400	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801305	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801307	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801308	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801312	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801314	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801315	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801317	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801318	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801319	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801320	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801321	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801322	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801323	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801325	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801326	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801328	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801330	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801332	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801333	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801337	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801338	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801339	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801344	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801347	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801350	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801352	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801354	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049366	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055148	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69574600-69597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:69590000-69597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:69592400-69597600	Enhancers	HepG2	liver
4	chr16:69595200-69598400	Enhancers	Fetal Intestine Large	intestine
5	chr16:69595400-69597200	Enhancers	Fetal Intestine Small	intestine
6	chr16:69596200-69597600	Weak transcription	A549	lung
7	chr16:69596400-69597600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr16:69596400-69598000	Weak transcription	Liver	Liver
9	chr16:69596800-69597000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:69596800-69597200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:69596800-69597600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:69596800-69597600	Enhancers	GM12878-XiMat	blood
13	chr16:69596800-69597800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:69596800-69598000	Enhancers	Primary B cells from cord blood	blood

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