Variant report

Variant	rs11085240
Chromosome Location	chr19:18811740-18811741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18810589..18812335-chr19:18824171..18827003,2	MCF-7	breast:
2	chr19:18777019..18779428-chr19:18809740..18812402,2	K562	blood:
3	chr19:18810890..18813557-chr19:18875190..18876829,2	K562	blood:
4	chr19:18789026..18790711-chr19:18810926..18813520,2	K562	blood:
5	chr19:18653429..18654988-chr19:18810315..18813230,2	K562	blood:
6	chr19:18809327..18811934-chr19:18826162..18828018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105701	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11085241	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668545	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11880800	0.87[EUR][1000 genomes]
rs12460629	0.84[EUR][1000 genomes]
rs12462498	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2003475	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023878	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34482977	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60021783	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs757317	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8113096	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	esv3393439	chr19:18807352-18811750	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18797200-18822400	Weak transcription	HepG2	liver
2	chr19:18810200-18812400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:18810200-18812400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:18810400-18812400	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr19:18810400-18812400	Flanking Active TSS	GM12878-XiMat	blood
6	chr19:18810600-18812200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr19:18810600-18812400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr19:18810600-18812400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:18811000-18812000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr19:18811000-18812000	Flanking Active TSS	Liver	Liver
11	chr19:18811000-18812200	Flanking Active TSS	Fetal Stomach	stomach
12	chr19:18811000-18812200	Flanking Active TSS	Thymus	Thymus
13	chr19:18811000-18812400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:18811000-18812400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:18811000-18812400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:18811000-18812400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:18811000-18812400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:18811000-18812400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr19:18811000-18812400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr19:18811200-18811800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr19:18811200-18812000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:18811200-18812000	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr19:18811200-18812200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:18811200-18812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:18811200-18812400	Enhancers	Fetal Brain Male	brain
26	chr19:18811200-18812400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr19:18811400-18811800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:18811400-18811800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr19:18811400-18811800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:18811400-18811800	Active TSS	Esophagus	oesophagus
31	chr19:18811400-18811800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr19:18811400-18811800	Active TSS	Right Ventricle	heart
33	chr19:18811400-18811800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr19:18811400-18811800	Flanking Active TSS	K562	blood
35	chr19:18811400-18811800	Flanking Active TSS	Osteobl	bone
36	chr19:18811400-18812000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:18811400-18812000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:18811400-18812000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr19:18811400-18812000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:18811400-18812000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr19:18811400-18812000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr19:18811400-18812000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:18811400-18812000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr19:18811400-18812000	Active TSS	Left Ventricle	heart
45	chr19:18811400-18812000	Active TSS	Right Atrium	heart
46	chr19:18811400-18812000	Active TSS	NHDF-Ad	bronchial
47	chr19:18811400-18812200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:18811400-18812200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:18811400-18812200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr19:18811400-18812200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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