Variant report

Variant	rs995691
Chromosome Location	chr5:90565180-90565181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 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	TCF12	chr5:90564942-90565239	GM12878	blood:	n/a	n/a
7	STAT5A	chr5:90565051-90565351	GM12878	blood:	n/a	n/a
8	EP300	chr5:90564967-90565385	GM12878	blood:	n/a	n/a
9	SP1	chr5:90564983-90565367	GM12878	blood:	n/a	n/a
10	NFIC	chr5:90564950-90565388	GM12878	blood:	n/a	n/a
11	BATF	chr5:90564999-90565347	GM12878	blood:	n/a	n/a
12	BATF	chr5:90564957-90565357	GM12878	blood:	n/a	n/a
13	CEBPB	chr5:90565096-90565321	GM12878	blood:	n/a	n/a
14	FOXM1	chr5:90564891-90565516	GM12878	blood:	n/a	n/a
15	BCLAF1	chr5:90564982-90565339	GM12878	blood:	n/a	n/a
16	EBF1	chr5:90565093-90565381	GM12878	blood:	n/a	n/a
17	PAX5	chr5:90564901-90565396	GM12878	blood:	n/a	n/a
18	ZNF384	chr5:90565175-90565636	K562	blood:	n/a	n/a
19	ATF2	chr5:90564853-90565451	GM12878	blood:	n/a	n/a
20	TCF3	chr5:90565070-90565256	GM12878	blood:	n/a	n/a
21	RUNX3	chr5:90564880-90565519	GM12878	blood:	n/a	n/a
22	EP300	chr5:90565112-90565370	GM12878	blood:	n/a	n/a
23	FOXM1	chr5:90564932-90565383	GM12878	blood:	n/a	n/a
24	NFIC	chr5:90565009-90565471	GM12878	blood:	n/a	n/a
25	EP300	chr5:90564922-90565428	GM12878	blood:	n/a	n/a
26	RCOR1	chr5:90565168-90565213	K562	blood:	n/a	n/a
27	ZNF143	chr5:90565108-90565286	GM12878	blood:	n/a	n/a
28	POU2F2	chr5:90564975-90565281	GM12891	blood:	n/a	n/a
29	MEF2A	chr5:90564948-90565474	GM12878	blood:	n/a	n/a
30	MTA3	chr5:90564912-90565520	GM12878	blood:	n/a	n/a
31	RUNX3	chr5:90564880-90565560	GM12878	blood:	n/a	n/a
32	TBL1XR1	chr5:90565007-90565355	GM12878	blood:	n/a	n/a
33	MAZ	chr5:90565136-90565336	GM12878	blood:	n/a	n/a
34	TCF12	chr5:90564946-90565294	GM12878	blood:	n/a	n/a
35	IKZF1	chr5:90565131-90565260	GM12878	blood:	n/a	n/a
36	WRNIP1	chr5:90565124-90565250	GM12878	blood:	n/a	n/a
37	ZNF384	chr5:90565062-90565472	GM12878	blood:	n/a	n/a
38	STAT5A	chr5:90564901-90565382	GM12878	blood:	n/a	n/a
39	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: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1473048	1.00[ASN][1000 genomes]
rs2102553	1.00[ASN][1000 genomes]
rs2941889	1.00[ASN][1000 genomes]
rs2941903	1.00[ASN][1000 genomes]
rs2973465	1.00[ASN][1000 genomes]
rs2973471	1.00[ASN][1000 genomes]
rs6884883	1.00[ASN][1000 genomes]
rs73179864	1.00[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:36 , 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	chr5:90564400-90565200	Enhancers	Brain Hippocampus Middle	brain
7	chr5:90564400-90566200	Enhancers	Thymus	Thymus
8	chr5:90564600-90565200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:90564600-90565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:90564600-90565200	Enhancers	Brain Angular Gyrus	brain
11	chr5:90564600-90565200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:90564600-90565200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:90564600-90565200	Enhancers	K562	blood
14	chr5:90564600-90565400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:90564600-90565400	Enhancers	Brain Substantia Nigra	brain
16	chr5:90564600-90565400	Enhancers	HMEC	breast
17	chr5:90564600-90565600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr5:90564600-90565600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:90564600-90565600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:90564600-90565600	Enhancers	GM12878-XiMat	blood
21	chr5:90564600-90565800	Enhancers	Primary T cells from cord blood	blood
22	chr5:90564600-90566200	Enhancers	Dnd41	blood
23	chr5:90564800-90565200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:90564800-90565200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:90564800-90565200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:90564800-90565200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:90564800-90565200	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:90564800-90565400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:90564800-90565400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:90564800-90565600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:90564800-90565600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:90564800-90565600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:90564800-90565600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:90564800-90566000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:90565000-90565400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr5:90565000-90575200	Weak transcription	Brain Anterior Caudate	brain

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