Variant report

Variant	rs72753572
Chromosome Location	chr9:100699238-100699239
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100697076..100699494-chr9:100808652..100811016,2	K562	blood:
2	chr9:100698882..100701716-chr9:100722332..100724785,2	K562	blood:
3	chr9:100698423..100701037-chr9:100720373..100724214,5	K562	blood:
4	chr9:100685412..100687157-chr9:100698092..100700080,2	MCF-7	breast:
5	chr9:100697884..100700117-chr9:100716983..100718742,2	K562	blood:
6	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
7	chr9:100697884..100704099-chr9:100714128..100720073,9	K562	blood:
8	chr9:100684773..100686336-chr9:100698329..100700148,2	MCF-7	breast:
9	chr9:100698192..100700969-chr9:100818656..100820847,3	K562	blood:
10	chr9:100697695..100700057-chr9:100704128..100706431,3	MCF-7	breast:
11	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236896	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136932	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10984193	0.83[EUR][1000 genomes]
rs10984297	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10984349	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10984361	0.82[ASN][1000 genomes]
rs10984375	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10984405	0.84[ASN][1000 genomes]
rs10984462	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984478	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10984484	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10984499	0.91[ASN][1000 genomes]
rs10984588	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10984599	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10984601	0.82[AMR][1000 genomes]
rs1127703	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12235434	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12236440	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12237296	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12377604	0.96[ASN][1000 genomes]
rs1475695	0.91[ASN][1000 genomes]
rs1475696	0.95[ASN][1000 genomes]
rs17346310	0.83[EUR][1000 genomes]
rs17431614	0.82[ASN][1000 genomes]
rs17431934	0.96[ASN][1000 genomes]
rs3780416	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3780417	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3780418	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3780419	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808894	0.82[ASN][1000 genomes]
rs3824496	0.82[ASN][1000 genomes]
rs4498663	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4618817	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743145	0.82[ASN][1000 genomes]
rs62574034	0.83[EUR][1000 genomes]
rs62574035	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66990486	0.82[ASN][1000 genomes]
rs67500034	0.83[EUR][1000 genomes]
rs67975003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68053069	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68112593	0.85[EUR][1000 genomes]
rs7024281	0.82[AMR][1000 genomes]
rs7025609	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7030887	0.82[ASN][1000 genomes]
rs7030907	0.82[ASN][1000 genomes]
rs7040232	0.85[EUR][1000 genomes]
rs72753548	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72753587	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs755109	0.96[ASN][1000 genomes]
rs7855917	0.85[EUR][1000 genomes]
rs7861658	0.82[ASN][1000 genomes]
rs7864655	0.89[AMR][1000 genomes];1.00[EUR][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	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1048135	chr9:100666931-100717030	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100693400-100700400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr9:100694600-100700000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:100695200-100699600	Transcr. at gene 5' and 3'	K562	blood
4	chr9:100695600-100700000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr9:100696000-100700000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr9:100697000-100700200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr9:100697200-100701600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr9:100697400-100701600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr9:100697800-100700200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr9:100698000-100699400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:100698000-100700000	Weak transcription	Thymus	Thymus
12	chr9:100698000-100700000	Weak transcription	Dnd41	blood
13	chr9:100698000-100700600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:100698400-100700400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr9:100698400-100700400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:100698800-100699600	Weak transcription	Fetal Thymus	thymus
17	chr9:100699000-100700200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:100699200-100700000	Enhancers	Primary T cells from cord blood	blood
19	chr9:100699200-100700600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr9:100699200-100700600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:100699200-100701600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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