Variant report

Variant	rs1859056
Chromosome Location	chr19:19313586-19313587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:19312779..19319489-chr19:19322201..19327588,8	K562	blood:
2	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:
3	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
4	chr19:12902470..12904753-chr19:19312649..19315293,2	MCF-7	breast:
5	chr19:19307070..19310712-chr19:19311051..19314432,7	MCF-7	breast:
6	chr19:19312433..19314874-chr19:19432298..19433867,2	MCF-7	breast:
7	chr19:19307535..19311874-chr19:19311949..19315894,9	MCF-7	breast:
8	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
9	chr19:19312772..19314396-chr19:19430027..19431719,3	MCF-7	breast:
10	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095066	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000130287	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10406347	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10417312	1.00[EUR][1000 genomes]
rs10426537	1.00[EUR][1000 genomes]
rs13344556	1.00[EUR][1000 genomes]
rs16996008	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28475118	1.00[EUR][1000 genomes]
rs4353576	1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs45560433	0.81[ASN][1000 genomes]
rs7248977	0.85[JPT][hapmap]
rs7250310	0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8100866	1.00[EUR][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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19304800-19313600	Weak transcription	Small Intestine	intestine
2	chr19:19310600-19313600	Weak transcription	Aorta	Aorta
3	chr19:19310600-19313600	Weak transcription	Left Ventricle	heart
4	chr19:19312400-19313600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:19312400-19313800	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr19:19312400-19314000	Flanking Active TSS	Hela-S3	cervix
7	chr19:19312600-19313600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:19312600-19313600	Genic enhancers	Spleen	Spleen
9	chr19:19312600-19313800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
10	chr19:19312600-19313800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:19312600-19313800	Flanking Active TSS	GM12878-XiMat	blood
12	chr19:19312800-19313600	Flanking Active TSS	K562	blood
13	chr19:19312800-19313800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:19312800-19314000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:19312800-19314000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:19313000-19313600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:19313000-19313600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
18	chr19:19313000-19313600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
19	chr19:19313000-19313600	Enhancers	Right Atrium	heart
20	chr19:19313000-19313600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr19:19313000-19313600	Enhancers	Stomach Mucosa	stomach
22	chr19:19313000-19313600	Flanking Active TSS	HSMM	muscle
23	chr19:19313000-19313600	Transcr. at gene 5' and 3'	NHEK	skin
24	chr19:19313000-19313800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:19313000-19313800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:19313000-19313800	Flanking Active TSS	Esophagus	oesophagus
27	chr19:19313000-19314000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:19313000-19314000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr19:19313000-19314000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr19:19313000-19314000	Flanking Active TSS	Fetal Brain Female	brain
31	chr19:19313000-19314000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr19:19313000-19314000	Flanking Active TSS	HMEC	breast
33	chr19:19313000-19314200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr19:19313000-19314200	Flanking Active TSS	HUVEC	blood vessel
35	chr19:19313000-19314600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr19:19313000-19314800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:19313200-19313600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:19313200-19313600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:19313200-19313600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:19313200-19313600	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:19313200-19313600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr19:19313200-19313600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:19313200-19313600	Enhancers	Ovary	ovary
44	chr19:19313200-19313600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
45	chr19:19313200-19313600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr19:19313200-19313800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr19:19313200-19313800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:19313200-19313800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr19:19313200-19313800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr19:19313200-19313800	Flanking Active TSS	Psoas Muscle	Psoas

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