Variant report

Variant	rs274802
Chromosome Location	chr19:20842549-20842550
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	chr19:20831482..20833710-chr19:20840893..20843099,3	K562	blood:
2	chr19:20835189..20837977-chr19:20841442..20843188,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10406397	0.86[AMR][1000 genomes]
rs10417842	0.87[AMR][1000 genomes]
rs10425311	0.86[AMR][1000 genomes]
rs10425331	0.86[AMR][1000 genomes]
rs1074990	0.86[AMR][1000 genomes]
rs2288534	0.84[AMR][1000 genomes]
rs274801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274804	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274805	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274806	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274807	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274809	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274810	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs274815	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4599041	0.86[ASN][1000 genomes]
rs4644961	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7253963	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8104278	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9304971	0.81[ASN][1000 genomes]
rs959419	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911325	chr19:20151257-21071548	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
2	esv2758489	chr19:20574295-20845947	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758749	chr19:20574295-20845947	ZNF genes & repeats Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530804	chr19:20574295-21001349	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv978786	chr19:20818886-20884983	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911407	chr19:20818886-20885811	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv911408	chr19:20818886-20885811	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1065039	chr19:20818886-20977326	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2751781	chr19:20818886-20985425	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv578921	chr19:20818886-20985425	ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv458510	chr19:20818886-20987550	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv578910	chr19:20818886-20987550	Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv578917	chr19:20818886-20989873	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv578918	chr19:20818886-21008212	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv3447275	chr19:20818886-21030779	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
19	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs274802	ZNF626	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20815000-20843400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:20815200-20843200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:20816200-20843000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr19:20816400-20842600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:20822600-20842800	Weak transcription	HSMMtube	muscle
6	chr19:20823600-20843200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:20827000-20842800	Weak transcription	Gastric	stomach
8	chr19:20827200-20842600	Weak transcription	Brain Angular Gyrus	brain
9	chr19:20829200-20843600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:20829800-20843400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:20829800-20843600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr19:20831800-20842600	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr19:20832600-20843000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:20834000-20843800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr19:20834200-20843400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
16	chr19:20834400-20843000	ZNF genes & repeats	Fetal Brain Female	brain
17	chr19:20835600-20843600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:20837000-20842800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:20837600-20843000	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:20838000-20842600	Weak transcription	Lung	lung
21	chr19:20838000-20843400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr19:20838400-20843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:20839000-20842600	ZNF genes & repeats	Fetal Lung	lung
24	chr19:20839000-20843200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:20839200-20843400	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr19:20839400-20842600	Strong transcription	Osteobl	bone
27	chr19:20839400-20842800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:20839400-20843000	ZNF genes & repeats	NHEK	skin
29	chr19:20839400-20843200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr19:20839600-20842600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:20839600-20843000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:20839600-20843200	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr19:20839800-20842600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:20839800-20842600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:20839800-20842800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:20839800-20843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:20839800-20843000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:20839800-20843000	ZNF genes & repeats	Aorta	Aorta
39	chr19:20839800-20843000	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr19:20839800-20843000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr19:20839800-20843200	Genic enhancers	Left Ventricle	heart
42	chr19:20839800-20843200	Weak transcription	HUVEC	blood vessel
43	chr19:20839800-20843400	ZNF genes & repeats	Fetal Stomach	stomach
44	chr19:20839800-20843600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:20839800-20843600	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr19:20839800-20843800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:20839800-20843800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:20840000-20842800	ZNF genes & repeats	Liver	Liver
49	chr19:20840000-20843000	ZNF genes & repeats	Thymus	Thymus
50	chr19:20840000-20844400	ZNF genes & repeats	Fetal Brain Male	brain

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