Variant report

Variant	rs4806652
Chromosome Location	chr19:55746554-55746555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:55746157-55746572	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55739984..55744473-chr19:55744557..55749568,5	MCF-7	breast:
2	chr19:55746515..55750707-chr19:55750754..55755657,5	K562	blood:
3	chr19:55746234..55748933-chr19:55918549..55920708,2	K562	blood:
4	chr19:55744553..55748996-chr19:55750438..55753043,5	K562	blood:
5	chr19:55743829..55748910-chr19:55895144..55898736,4	K562	blood:

No data

Variant related genes	Relation type
TMEM86B	TF binding region
PPP6R1	TF binding region
ENSG00000180089	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000108107	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10411896	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11669313	0.90[ASN][1000 genomes]
rs11672373	0.88[GIH][hapmap]
rs11672710	1.00[CHB][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap]
rs16986304	1.00[MEX][hapmap]
rs3848608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3848610	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs4252572	1.00[MEX][hapmap]
rs4337407	0.84[CHD][hapmap];0.88[GIH][hapmap]
rs4644955	0.96[GIH][hapmap]
rs4806651	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806653	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509938	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7258287	1.00[MEX][hapmap]
rs7258327	0.93[ASN][1000 genomes]
rs7258659	1.00[MEX][hapmap]
rs7260246	1.00[MEX][hapmap]
rs8104509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105032	1.00[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55728800-55747800	Weak transcription	Psoas Muscle	Psoas
2	chr19:55728800-55747800	Weak transcription	NH-A	brain
3	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
4	chr19:55733800-55758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:55734200-55758400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr19:55734600-55759800	Strong transcription	Brain Anterior Caudate	brain
9	chr19:55734800-55758600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr19:55735000-55762400	Strong transcription	Thymus	Thymus
11	chr19:55735200-55762200	Strong transcription	Fetal Thymus	thymus
12	chr19:55736800-55760000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:55736800-55764200	Strong transcription	Dnd41	blood
14	chr19:55737000-55758200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr19:55737000-55758200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:55737000-55758400	Strong transcription	Brain Substantia Nigra	brain
17	chr19:55737000-55758600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:55737000-55758800	Strong transcription	Placenta	Placenta
19	chr19:55737000-55759000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:55737000-55760000	Strong transcription	Brain Germinal Matrix	brain
21	chr19:55737000-55760600	Strong transcription	Primary T cells from cord blood	blood
22	chr19:55737200-55758200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:55737200-55758400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:55737200-55758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:55737200-55758400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:55737200-55758800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr19:55737200-55759200	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:55737200-55759800	Strong transcription	Lung	lung
29	chr19:55737400-55758600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:55737400-55758600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:55737400-55758600	Strong transcription	Fetal Muscle Leg	muscle
32	chr19:55737400-55758600	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:55737400-55758800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:55737400-55759000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:55737400-55759800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:55737400-55760000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:55737600-55758200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:55737600-55758400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:55737600-55758600	Strong transcription	Adipose Nuclei	Adipose
40	chr19:55737600-55758800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:55737600-55759000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:55737800-55758200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:55737800-55758600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:55737800-55758800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:55737800-55759200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:55737800-55760000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr19:55738000-55758400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:55738000-55758600	Strong transcription	Ovary	ovary
49	chr19:55738000-55760000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:55738200-55758600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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