Variant report

Variant	rs73540432
Chromosome Location	chr19:21183557-21183558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21183047..21184669-chr19:21201811..21203556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118620	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10406359	1.00[AMR][1000 genomes]
rs10418266	1.00[AMR][1000 genomes]
rs17447963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098682	1.00[AMR][1000 genomes]
rs57505697	1.00[AMR][1000 genomes]
rs57601660	1.00[AMR][1000 genomes]
rs57981503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58002329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59609198	1.00[AMR][1000 genomes]
rs60170851	1.00[AMR][1000 genomes]
rs60293432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61179921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7246695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248199	1.00[AMR][1000 genomes]
rs7259985	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531882	1.00[AMR][1000 genomes]
rs73531886	1.00[AMR][1000 genomes]
rs73531897	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531902	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533603	1.00[AMR][1000 genomes]
rs73533607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533690	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542629	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542640	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544576	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546304	1.00[AMR][1000 genomes]
rs73546306	1.00[AMR][1000 genomes]
rs8104371	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21182200-21183600	Active TSS	Brain Germinal Matrix	brain
2	chr19:21182200-21183800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:21182400-21183600	Active TSS	Fetal Kidney	kidney
4	chr19:21182400-21183600	Active TSS	Fetal Lung	lung
5	chr19:21182400-21183800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:21182400-21183800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:21182600-21183600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:21182600-21183600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:21182600-21183600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:21182600-21183800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:21182600-21183800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:21182600-21183800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:21182600-21183800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:21182600-21183800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:21182600-21183800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr19:21182600-21184000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:21182600-21184000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:21182600-21184200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:21182800-21183600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr19:21182800-21183600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:21182800-21183800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:21182800-21183800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:21182800-21183800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr19:21183000-21183600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr19:21183000-21183600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:21183000-21183600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:21183000-21183800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:21183200-21186400	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:21183400-21183600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:21183400-21183600	Enhancers	Primary hematopoietic stem cells	blood
31	chr19:21183400-21183600	Active TSS	Fetal Brain Female	brain
32	chr19:21183400-21183600	Active TSS	Fetal Stomach	stomach
33	chr19:21183400-21183600	Flanking Active TSS	NHEK	skin
34	chr19:21183400-21183800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:21183400-21184400	Flanking Active TSS	Dnd41	blood
36	chr19:21183400-21193800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:21183400-21196000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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