Variant report

Variant	rs28832070
Chromosome Location	chr19:40546853-40546854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403646	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883159	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13382054	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs57554707	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs61424085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250945	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40541400-40549200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:40542000-40549000	Weak transcription	Ovary	ovary
3	chr19:40542200-40549200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:40542200-40549200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:40542200-40549800	Weak transcription	HSMMtube	muscle
6	chr19:40542400-40549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:40542400-40549400	Weak transcription	HepG2	liver
8	chr19:40542600-40549800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:40543000-40549200	Weak transcription	Pancreas	Pancrea
10	chr19:40543400-40549200	Weak transcription	Left Ventricle	heart
11	chr19:40543400-40549600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:40543600-40549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:40543600-40549000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:40543600-40549000	Weak transcription	Aorta	Aorta
15	chr19:40543600-40549000	Weak transcription	Fetal Lung	lung
16	chr19:40543600-40549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:40543600-40549200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:40543600-40549200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:40543600-40549200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:40543600-40549200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:40543600-40549200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:40543600-40549200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:40543600-40549200	Weak transcription	Brain Germinal Matrix	brain
24	chr19:40543600-40549400	Weak transcription	Primary B cells from cord blood	blood
25	chr19:40543600-40549400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:40543800-40549000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:40543800-40549000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:40543800-40549000	Weak transcription	Adipose Nuclei	Adipose
29	chr19:40543800-40549000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr19:40543800-40549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:40543800-40549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:40543800-40549200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:40543800-40549200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:40543800-40549200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr19:40543800-40549200	Weak transcription	Fetal Brain Female	brain
36	chr19:40543800-40549200	Weak transcription	Psoas Muscle	Psoas
37	chr19:40543800-40549400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:40543800-40549400	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:40543800-40549400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:40543800-40549800	Weak transcription	Brain Angular Gyrus	brain
41	chr19:40546200-40549200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:40546800-40549200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:40546800-40549200	Weak transcription	Stomach Smooth Muscle	stomach

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