Variant report

Variant	rs56227420
Chromosome Location	chr19:19195519-19195520
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19174651..19178672-chr19:19193782..19196687,4	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.85[EUR][1000 genomes]
rs10221450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10221529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11549380	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28498174	0.87[EUR][1000 genomes]
rs4808171	0.87[EUR][1000 genomes]
rs4808178	0.87[EUR][1000 genomes]
rs4808180	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808896	0.87[EUR][1000 genomes]
rs4808897	0.87[EUR][1000 genomes]
rs4808899	0.87[EUR][1000 genomes]
rs4808909	0.83[EUR][1000 genomes]
rs4808910	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808912	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808914	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808915	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808922	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658345	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55678828	0.87[EUR][1000 genomes]
rs56141206	0.87[EUR][1000 genomes]
rs56144126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56159042	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60489867	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60696741	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993462	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73004898	0.87[EUR][1000 genomes]
rs73004899	0.87[EUR][1000 genomes]
rs73006907	0.87[EUR][1000 genomes]
rs73006928	0.87[EUR][1000 genomes]
rs73008923	0.87[EUR][1000 genomes]
rs73008928	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008930	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008934	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73008939	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73008945	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008949	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008958	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008960	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73010908	1.00[AMR][1000 genomes];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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:19176400-19215800	Weak transcription	NHLF	lung
5	chr19:19176600-19206800	Weak transcription	Fetal Brain Female	brain
6	chr19:19176600-19207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:19176600-19208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:19177200-19204800	Weak transcription	Fetal Intestine Large	intestine
10	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
11	chr19:19178400-19204800	Weak transcription	HepG2	liver
12	chr19:19178600-19198400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:19180400-19195800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:19180400-19207200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
18	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
22	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
23	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:19185400-19208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:19185600-19198600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:19185600-19198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:19185600-19207200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:19185600-19211400	Weak transcription	Pancreas	Pancrea
32	chr19:19186400-19206800	Weak transcription	Fetal Thymus	thymus
33	chr19:19186800-19207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:19187000-19205400	Weak transcription	Ovary	ovary
36	chr19:19187400-19207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:19187800-19196200	Weak transcription	GM12878-XiMat	blood
38	chr19:19188400-19204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:19188400-19209800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:19189400-19207200	Weak transcription	Brain Anterior Caudate	brain
41	chr19:19189800-19202800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:19191000-19196000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:19191400-19205200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr19:19192000-19196200	Strong transcription	Primary T cells from cord blood	blood
45	chr19:19192000-19197800	Strong transcription	Fetal Stomach	stomach
46	chr19:19192600-19196400	Strong transcription	Thymus	Thymus
47	chr19:19192800-19196800	Weak transcription	Liver	Liver
48	chr19:19192800-19207800	Weak transcription	Adipose Nuclei	Adipose
49	chr19:19193000-19196600	Weak transcription	Spleen	Spleen
50	chr19:19193000-19200600	Weak transcription	Right Atrium	heart

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