Variant report

Variant	rs851294
Chromosome Location	chr19:42877392-42877393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42876139..42879164-chr19:42881326..42883970,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1206027	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206029	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206031	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206033	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206035	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206038	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206040	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206041	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206042	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206043	0.92[ASN][1000 genomes]
rs1206044	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13346991	0.86[EUR][1000 genomes]
rs1613100	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654623	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676211	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1676213	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676214	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676215	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676220	0.86[EUR][1000 genomes]
rs1676221	0.86[EUR][1000 genomes]
rs1676222	0.92[ASN][1000 genomes]
rs1685565	0.90[EUR][1000 genomes]
rs28621009	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34922891	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35557987	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61995685	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7255956	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7260287	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs851292	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs851293	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs851296	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs862228	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs865436	0.86[EUR][1000 genomes];0.92[ASN][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats 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
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
2	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:42844800-42877400	Weak transcription	Stomach Mucosa	stomach
5	chr19:42862600-42878800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:42868400-42879200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:42868400-42881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:42868400-42882400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:42868600-42878800	Weak transcription	Esophagus	oesophagus
10	chr19:42868600-42878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:42868600-42879000	Weak transcription	Aorta	Aorta
12	chr19:42868600-42882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:42868800-42878800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr19:42868800-42878800	Weak transcription	Gastric	stomach
15	chr19:42868800-42878800	Weak transcription	Thymus	Thymus
16	chr19:42868800-42878800	Weak transcription	Dnd41	blood
17	chr19:42868800-42880800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:42868800-42882000	Strong transcription	Fetal Stomach	stomach
19	chr19:42869000-42878200	Weak transcription	Liver	Liver
20	chr19:42869000-42878800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:42869000-42878800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:42869000-42883400	Weak transcription	Primary T cells from cord blood	blood
23	chr19:42869000-42884400	Weak transcription	Colonic Mucosa	Colon
24	chr19:42869200-42879000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:42869400-42878800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:42869600-42880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:42869600-42890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:42869800-42878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:42870800-42881400	Strong transcription	Brain Anterior Caudate	brain
30	chr19:42871000-42878800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:42871400-42878800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:42871400-42890800	Weak transcription	Psoas Muscle	Psoas
33	chr19:42871800-42881400	Strong transcription	Fetal Brain Female	brain
34	chr19:42872000-42878800	Weak transcription	Left Ventricle	heart
35	chr19:42872000-42884800	Weak transcription	A549	lung
36	chr19:42872200-42883800	Weak transcription	Fetal Brain Male	brain
37	chr19:42872400-42881400	Strong transcription	Ovary	ovary
38	chr19:42872600-42878200	Weak transcription	Fetal Heart	heart
39	chr19:42873600-42880400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr19:42873800-42879800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:42874400-42891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:42874800-42881400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:42874800-42881600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:42874800-42884400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:42875000-42878800	Weak transcription	K562	blood
46	chr19:42875000-42881400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:42875000-42881400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:42875000-42881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:42875000-42882200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:42875200-42881600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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