Variant report

Variant	rs367056
Chromosome Location	chr19:44462750-44462751
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:44462527-44462930	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44453891..44455706-chr19:44461595..44463312,2	MCF-7	breast:

Variant related genes	Relation type
ZNF221	TF binding region
ENSG00000159905	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs365769	0.89[AMR][1000 genomes]
rs367241	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs373043	0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs374421	0.89[AMR][1000 genomes]
rs379722	0.89[AMR][1000 genomes]
rs384432	0.89[AMR][1000 genomes]
rs391596	0.87[YRI][hapmap];0.95[AFR][1000 genomes]
rs393117	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes]
rs393403	1.00[LWK][hapmap];0.87[MKK][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs393473	1.00[LWK][hapmap];0.90[MKK][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs393737	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes]
rs395143	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs424364	0.89[AMR][1000 genomes]
rs435590	0.89[ASW][hapmap];1.00[MEX][hapmap]
rs441225	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs442934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443074	0.89[AMR][1000 genomes]
rs446072	1.00[LWK][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs447175	0.89[AMR][1000 genomes]
rs451601	1.00[MEX][hapmap]
rs452143	0.89[AMR][1000 genomes]
rs453611	0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs453640	0.89[ASW][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs7260473	1.00[MEX][hapmap]

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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
3	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
7	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
9	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:44456800-44463400	Weak transcription	Fetal Heart	heart
13	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:44457000-44463400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:44459600-44464200	Weak transcription	Brain Angular Gyrus	brain
16	chr19:44459800-44463400	Weak transcription	Right Ventricle	heart
17	chr19:44460000-44467400	Weak transcription	HSMM	muscle
18	chr19:44460400-44462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:44461400-44465600	ZNF genes & repeats	Ovary	ovary
20	chr19:44461600-44462800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:44461600-44462800	Enhancers	NHLF	lung
22	chr19:44461800-44463000	Enhancers	NHDF-Ad	bronchial
23	chr19:44461800-44463800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:44461800-44475200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr19:44462000-44462800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:44462000-44462800	ZNF genes & repeats	Aorta	Aorta
27	chr19:44462000-44463800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr19:44462000-44465200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:44462000-44465400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:44462000-44475000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr19:44462200-44462800	ZNF genes & repeats	Fetal Brain Male	brain
33	chr19:44462200-44465600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44462200-44465600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:44462200-44474800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr19:44462200-44475600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:44462200-44475800	ZNF genes & repeats	Fetal Lung	lung
38	chr19:44462200-44476600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr19:44462400-44462800	ZNF genes & repeats	Fetal Stomach	stomach
40	chr19:44462400-44465400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr19:44462400-44465800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:44462400-44475400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr19:44462600-44462800	ZNF genes & repeats	Colonic Mucosa	Colon
44	chr19:44462600-44463000	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr19:44462600-44463600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:44462600-44465400	ZNF genes & repeats	Left Ventricle	heart

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