Variant report

Variant	rs57981781
Chromosome Location	chr19:39373347-39373348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:39373341-39373758	K562	blood:	n/a	n/a
2	ARID3A	chr19:39373315-39373765	K562	blood:	n/a	n/a
3	MXI1	chr19:39373197-39373808	SK-N-SH	brain:	n/a	n/a
4	GATA2	chr19:39373292-39373851	K562	blood:	n/a	n/a
5	NR2F2	chr19:39373337-39373780	K562	blood:	n/a	n/a
6	NR2F2	chr19:39373259-39373872	K562	blood:	n/a	n/a
7	STAT5A	chr19:39373347-39373791	K562	blood:	n/a	n/a
8	MYC	chr19:39373323-39373792	K562	blood:	n/a	n/a
9	MXI1	chr19:39373300-39373754	K562	blood:	n/a	n/a
10	GATA1	chr19:39373283-39373867	PBDE	blood:	n/a	n/a
11	PML	chr19:39373289-39373777	K562	blood:	n/a	n/a
12	CEBPD	chr19:39373316-39373762	K562	blood:	n/a	n/a
13	ZNF274	chr19:39373297-39373754	K562	blood:	n/a	n/a
14	CTCF	chr19:39373261-39373715	K562	blood:	n/a	n/a
15	CREB1	chr19:39373266-39373748	K562	blood:	n/a	n/a
16	CTCF	chr19:39373333-39373708	K562	blood:	n/a	n/a
17	MAFK	chr19:39373343-39373753	K562	blood:	n/a	n/a
18	CEBPB	chr19:39373332-39373782	K562	blood:	n/a	n/a
19	GABPA	chr19:39373342-39373692	K562	blood:	n/a	n/a
20	TEAD4	chr19:39373213-39373841	K562	blood:	n/a	n/a
21	STAT5A	chr19:39373281-39373880	K562	blood:	n/a	n/a
22	EP300	chr19:39373284-39373814	SK-N-SH	brain:	n/a	n/a
23	MAX	chr19:39373286-39373697	K562	blood:	n/a	n/a
24	CREB1	chr19:39373264-39373765	K562	blood:	n/a	n/a
25	CEBPD	chr19:39373309-39373921	K562	blood:	n/a	n/a
26	CTCF	chr19:39373346-39373590	K562	blood:	n/a	n/a
27	ZNF384	chr19:39373251-39373901	K562	blood:	n/a	n/a
28	CEBPB	chr19:39373301-39373738	K562	blood:	n/a	n/a
29	POLR2A	chr19:39373310-39373734	K562	blood:	n/a	n/a
30	TAL1	chr19:39373297-39373840	K562	blood:	n/a	n/a
31	TEAD4	chr19:39373257-39373781	K562	blood:	n/a	n/a
32	CBX3	chr19:39373299-39373768	K562	blood:	n/a	n/a
33	PML	chr19:39373322-39373797	K562	blood:	n/a	n/a
34	GATA1	chr19:39373254-39373756	K562	blood:	n/a	n/a
35	TRIM28	chr19:39373210-39373861	K562	blood:	n/a	n/a
36	MAFF	chr19:39373307-39373799	K562	blood:	n/a	n/a
37	GATA2	chr19:39373333-39373755	K562	blood:	n/a	n/a
38	GATA1	chr19:39373296-39373804	PBDEFetal	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:39365356..39367553-chr19:39371067..39373551,2	K562	blood:
2	chr19:39368670..39370238-chr19:39372589..39374302,2	K562	blood:
3	chr19:39340009..39342454-chr19:39372182..39374978,2	K562	blood:
4	chr19:39372814..39374883-chr19:39387174..39390098,2	K562	blood:
5	chr19:39361172..39363433-chr19:39372702..39375091,2	K562	blood:
6	chr19:39361964..39363858-chr19:39371410..39374300,2	MCF-7	breast:
7	chr19:39368670..39370630-chr19:39372048..39374468,3	K562	blood:
8	chr19:39371803..39374474-chr19:39375523..39378350,2	MCF-7	breast:
9	chr19:39372115..39377112-chr19:39381113..39384004,4	K562	blood:
10	chr19:39316492..39318849-chr19:39371943..39374537,2	K562	blood:

No data

Variant related genes	Relation type
RINL	TF binding region
SIRT2	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000187994	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10402619	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405371	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972862	1.00[ASN][1000 genomes]
rs45592833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39360800-39379200	Weak transcription	NHDF-Ad	bronchial
2	chr19:39361000-39379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:39361000-39380200	Weak transcription	Psoas Muscle	Psoas
4	chr19:39361200-39376800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:39365400-39379400	Weak transcription	Osteobl	bone
6	chr19:39368000-39374200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:39368600-39373400	Weak transcription	Fetal Brain Male	brain
8	chr19:39368800-39376600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:39368800-39378200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr19:39368800-39386400	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr19:39369000-39374600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:39369000-39379200	Weak transcription	HMEC	breast
13	chr19:39369000-39384000	Weak transcription	Right Atrium	heart
14	chr19:39369000-39386400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:39369200-39374600	Strong transcription	Brain Germinal Matrix	brain
16	chr19:39369200-39376600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:39369200-39377800	Weak transcription	Fetal Lung	lung
18	chr19:39369200-39382800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:39369200-39389200	Weak transcription	A549	lung
20	chr19:39369400-39374400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:39369400-39374600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:39369400-39375200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:39369400-39376000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:39369400-39379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:39369400-39382800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:39369400-39388800	Weak transcription	Stomach Mucosa	stomach
27	chr19:39369600-39373400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr19:39369600-39373600	Strong transcription	Right Ventricle	heart
29	chr19:39369600-39374600	Strong transcription	Brain Anterior Caudate	brain
30	chr19:39369600-39374600	Strong transcription	Fetal Brain Female	brain
31	chr19:39369600-39374600	Strong transcription	Lung	lung
32	chr19:39369600-39378600	Weak transcription	HUVEC	blood vessel
33	chr19:39369600-39379600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:39369800-39373600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:39369800-39374200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:39369800-39374600	Strong transcription	Adipose Nuclei	Adipose
37	chr19:39369800-39374600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr19:39369800-39374600	Strong transcription	Left Ventricle	heart
39	chr19:39369800-39375000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:39369800-39375800	Strong transcription	Gastric	stomach
41	chr19:39369800-39375800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:39370000-39374600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr19:39370000-39375600	Strong transcription	Brain Substantia Nigra	brain
44	chr19:39370000-39379000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:39370000-39385800	Strong transcription	Fetal Stomach	stomach
46	chr19:39370200-39373400	Weak transcription	HSMM	muscle
47	chr19:39370200-39376400	Weak transcription	NHEK	skin
48	chr19:39370200-39376600	Weak transcription	Primary T cells from cord blood	blood
49	chr19:39370200-39378800	Weak transcription	Fetal Thymus	thymus
50	chr19:39370200-39379200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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