Variant report

Variant	rs28776318
Chromosome Location	chr19:40493413-40493414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40488500..40491227-chr19:40493112..40494845,2	K562	blood:
2	chr19:40482332..40484056-chr19:40492145..40494034,2	MCF-7	breast:
3	chr19:40491047..40493453-chr19:40495126..40496667,2	K562	blood:
4	chr19:40493322..40496025-chr19:40501088..40504397,5	K562	blood:
5	chr19:40491800..40493887-chr19:40495833..40498689,2	K562	blood:

Variant related genes	Relation type
ENSG00000221233	Chromatin interaction
ENSG00000187187	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10403646	1.00[AMR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28832070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258111	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258718	1.00[AMR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40477800-40501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40478600-40501800	Weak transcription	Right Atrium	heart
3	chr19:40485800-40494600	ZNF genes & repeats	A549	lung
4	chr19:40487200-40499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:40487600-40501800	Weak transcription	Right Ventricle	heart
6	chr19:40488200-40497000	Weak transcription	Pancreas	Pancrea
7	chr19:40488200-40497400	Weak transcription	Gastric	stomach
8	chr19:40488200-40499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:40488200-40501800	Weak transcription	Esophagus	oesophagus
10	chr19:40488400-40501800	Weak transcription	Left Ventricle	heart
11	chr19:40488800-40501800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:40489000-40501600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:40489400-40494800	Weak transcription	Placenta	Placenta
14	chr19:40489600-40500200	Weak transcription	Fetal Kidney	kidney
15	chr19:40490000-40497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:40490200-40499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:40490200-40499600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:40490200-40499800	Weak transcription	Lung	lung
19	chr19:40490200-40501600	Weak transcription	HSMM	muscle
20	chr19:40490200-40501600	Weak transcription	Osteobl	bone
21	chr19:40490200-40501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:40490200-40501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:40490200-40502400	Weak transcription	Aorta	Aorta
24	chr19:40490400-40499600	Weak transcription	Fetal Thymus	thymus
25	chr19:40490400-40501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:40491000-40502200	Weak transcription	Ovary	ovary
27	chr19:40492400-40493600	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr19:40492400-40494400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:40492600-40493600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr19:40492600-40493800	ZNF genes & repeats	Fetal Brain Female	brain
31	chr19:40493000-40501800	Weak transcription	Brain Angular Gyrus	brain
32	chr19:40493000-40501800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:40493200-40494000	Weak transcription	Fetal Stomach	stomach
34	chr19:40493200-40501800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:40493400-40493600	Weak transcription	HSMMtube	muscle
36	chr19:40493400-40499600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:40493400-40499800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:40493400-40501800	Weak transcription	Psoas Muscle	Psoas

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