Variant report

Variant	rs10421503
Chromosome Location	chr19:18778445-18778446
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18769172..18772928-chr19:18776666..18781148,5	K562	blood:
2	chr19:18777019..18779428-chr19:18809740..18812402,2	K562	blood:
3	chr19:18777346..18780896-chr19:18782148..18785214,5	K562	blood:
4	chr19:18746574..18749470-chr19:18776630..18779130,2	K562	blood:
5	chr19:18771428..18776633-chr19:18776726..18782954,6	K562	blood:

Variant related genes	Relation type
ENSG00000167487	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10412053	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10412858	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10419226	0.91[ASN][1000 genomes]
rs10420228	0.91[ASN][1000 genomes]
rs10424265	0.82[ASN][1000 genomes]
rs10854003	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11085236	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11883401	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12976113	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473116	1.00[ASN][1000 genomes]
rs1991017	0.86[EUR][1000 genomes]
rs2214524	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385178	0.90[ASN][1000 genomes]
rs2891698	0.82[ASN][1000 genomes]
rs3764627	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3829671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808145	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808147	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6510995	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6510996	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246437	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257812	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757347	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8100824	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8102046	0.94[ASN][1000 genomes]
rs876982	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886443	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889364	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	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
5	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv1849639	chr19:18747006-18780799	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1811733	chr19:18764320-18780799	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1845237	chr19:18764320-18780799	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18760400-18794800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:18768200-18778600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:18769800-18781000	Weak transcription	Small Intestine	intestine
4	chr19:18770200-18778800	Weak transcription	Fetal Lung	lung
5	chr19:18770400-18793600	Weak transcription	GM12878-XiMat	blood
6	chr19:18770800-18783200	Weak transcription	Stomach Mucosa	stomach
7	chr19:18771600-18783400	Weak transcription	HUVEC	blood vessel
8	chr19:18771800-18788200	Weak transcription	K562	blood
9	chr19:18772000-18778600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:18773200-18788000	Weak transcription	NHEK	skin
11	chr19:18774200-18783400	Weak transcription	A549	lung
12	chr19:18774400-18784000	Strong transcription	Fetal Intestine Small	intestine
13	chr19:18774600-18778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:18774600-18779200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:18774600-18783800	Weak transcription	HepG2	liver
16	chr19:18774600-18787400	Weak transcription	Hela-S3	cervix
17	chr19:18774800-18783000	Weak transcription	HSMM	muscle
18	chr19:18774800-18788000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:18775000-18779000	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:18775000-18780600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:18775000-18781000	Strong transcription	Gastric	stomach
22	chr19:18775000-18781400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr19:18775000-18781400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr19:18775000-18783000	Strong transcription	Brain Germinal Matrix	brain
25	chr19:18775000-18783200	Strong transcription	Fetal Brain Female	brain
26	chr19:18775200-18778600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:18775200-18778600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:18775200-18779800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:18775200-18780800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:18775200-18781200	Weak transcription	HSMMtube	muscle
31	chr19:18775200-18781400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr19:18775200-18793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:18775400-18778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:18775400-18778600	Weak transcription	Fetal Thymus	thymus
35	chr19:18775400-18780000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:18775400-18782800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:18775400-18783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:18775600-18783400	Strong transcription	Dnd41	blood
39	chr19:18775800-18779800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:18776000-18779800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:18776000-18782400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:18776000-18783200	Strong transcription	Spleen	Spleen
43	chr19:18776000-18783600	Strong transcription	Thymus	Thymus
44	chr19:18776200-18780800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:18776200-18781000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:18776200-18781000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:18776200-18781000	Strong transcription	Pancreas	Pancrea
48	chr19:18776200-18781200	Strong transcription	Liver	Liver
49	chr19:18776200-18781600	Strong transcription	Adipose Nuclei	Adipose
50	chr19:18776200-18782200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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