Variant report

Variant	rs72786338
Chromosome Location	chr5:90565276-90565277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr5:90564936-90565378	GM12878	blood:	n/a	n/a
2	IRF4	chr5:90564945-90565391	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:90564986-90565287	GM12878	blood:	n/a	n/a
4	ATF2	chr5:90565015-90565328	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:90565157-90565357	GM12878	blood:	n/a	n/a
6	STAT5A	chr5:90565051-90565351	GM12878	blood:	n/a	n/a
7	EP300	chr5:90564967-90565385	GM12878	blood:	n/a	n/a
8	SP1	chr5:90564983-90565367	GM12878	blood:	n/a	n/a
9	NFIC	chr5:90564950-90565388	GM12878	blood:	n/a	n/a
10	BATF	chr5:90564999-90565347	GM12878	blood:	n/a	n/a
11	BATF	chr5:90564957-90565357	GM12878	blood:	n/a	n/a
12	CEBPB	chr5:90565096-90565321	GM12878	blood:	n/a	n/a
13	FOXM1	chr5:90564891-90565516	GM12878	blood:	n/a	n/a
14	BCLAF1	chr5:90564982-90565339	GM12878	blood:	n/a	n/a
15	EBF1	chr5:90565093-90565381	GM12878	blood:	n/a	n/a
16	PAX5	chr5:90564901-90565396	GM12878	blood:	n/a	n/a
17	ZNF384	chr5:90565175-90565636	K562	blood:	n/a	n/a
18	ATF2	chr5:90564853-90565451	GM12878	blood:	n/a	n/a
19	RUNX3	chr5:90564880-90565519	GM12878	blood:	n/a	n/a
20	EP300	chr5:90565112-90565370	GM12878	blood:	n/a	n/a
21	FOXM1	chr5:90564932-90565383	GM12878	blood:	n/a	n/a
22	NFIC	chr5:90565009-90565471	GM12878	blood:	n/a	n/a
23	EP300	chr5:90564922-90565428	GM12878	blood:	n/a	n/a
24	ZNF143	chr5:90565108-90565286	GM12878	blood:	n/a	n/a
25	POU2F2	chr5:90564975-90565281	GM12891	blood:	n/a	n/a
26	MEF2A	chr5:90564948-90565474	GM12878	blood:	n/a	n/a
27	MTA3	chr5:90564912-90565520	GM12878	blood:	n/a	n/a
28	RUNX3	chr5:90564880-90565560	GM12878	blood:	n/a	n/a
29	TBL1XR1	chr5:90565007-90565355	GM12878	blood:	n/a	n/a
30	MAZ	chr5:90565136-90565336	GM12878	blood:	n/a	n/a
31	TCF12	chr5:90564946-90565294	GM12878	blood:	n/a	n/a
32	ZNF384	chr5:90565062-90565472	GM12878	blood:	n/a	n/a
33	STAT5A	chr5:90564901-90565382	GM12878	blood:	n/a	n/a
34	BCL3	chr5:90564990-90565337	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90559982..90565400-chr5:90570467..90573729,4	K562	blood:
2	chr5:90555805..90566288-chr5:90673548..90682139,22	K562	blood:
3	chr5:90560937..90569122-chr5:90675177..90680484,12	K562	blood:

No data

Variant related genes	Relation type
RNU4-90P	TF binding region
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10474341	0.91[ASN][1000 genomes]
rs12188638	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12514996	0.82[ASN][1000 genomes]
rs12515116	0.85[ASN][1000 genomes]
rs12520306	0.91[ASN][1000 genomes]
rs12653995	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12658748	0.86[ASN][1000 genomes]
rs16869618	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2175437	0.94[AMR][1000 genomes]
rs34107416	0.94[AMR][1000 genomes]
rs56316727	1.00[ASN][1000 genomes]
rs56377435	1.00[ASN][1000 genomes]
rs56876862	0.84[ASN][1000 genomes]
rs58781250	0.90[ASN][1000 genomes]
rs72786311	0.91[ASN][1000 genomes]
rs72786312	0.85[ASN][1000 genomes]
rs72786318	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72786321	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786324	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786325	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786326	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786329	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786331	1.00[ASN][1000 genomes]
rs72786332	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786350	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786353	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72786354	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72786358	0.94[AMR][1000 genomes]
rs72786360	0.94[AMR][1000 genomes]
rs9647558	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90562600-90573200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:90562800-90568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:90562800-90568600	Weak transcription	Hela-S3	cervix
4	chr5:90562800-90568800	Weak transcription	Fetal Heart	heart
5	chr5:90564200-90566000	Enhancers	Fetal Thymus	thymus
6	chr5:90564400-90566200	Enhancers	Thymus	Thymus
7	chr5:90564600-90565400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:90564600-90565400	Enhancers	Brain Substantia Nigra	brain
9	chr5:90564600-90565400	Enhancers	HMEC	breast
10	chr5:90564600-90565600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:90564600-90565600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:90564600-90565600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:90564600-90565600	Enhancers	GM12878-XiMat	blood
14	chr5:90564600-90565800	Enhancers	Primary T cells from cord blood	blood
15	chr5:90564600-90566200	Enhancers	Dnd41	blood
16	chr5:90564800-90565400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:90564800-90565400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:90564800-90565600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:90564800-90565600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:90564800-90565600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:90564800-90565600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:90564800-90566000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:90565000-90565400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:90565000-90575200	Weak transcription	Brain Anterior Caudate	brain
25	chr5:90565200-90565600	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:90565200-90566200	Weak transcription	K562	blood

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