Variant report

Variant	rs12462040
Chromosome Location	chr19:45612226-45612227
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	chr19:45611547..45614540-chr19:45634096..45635965,2	K562	blood:
2	chr19:45611325..45613893-chr19:45616421..45619737,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10401157	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10401823	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10405086	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10416500	0.90[ASN][1000 genomes]
rs10420562	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10425074	0.97[ASN][1000 genomes]
rs1048699	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114831	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114832	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459074	0.92[ASN][1000 genomes]
rs17643262	0.97[EUR][1000 genomes]
rs2004357	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041262	0.90[ASN][1000 genomes]
rs28469095	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28620490	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545713	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925162	0.97[ASN][1000 genomes]
rs57565080	0.87[ASN][1000 genomes]
rs7248421	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754366	0.97[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	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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 target site	33 gene(s)	inside rSNPs	diseases
4	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45602800-45612600	Weak transcription	A549	lung
2	chr19:45603600-45612600	Weak transcription	Dnd41	blood
3	chr19:45603800-45619600	Weak transcription	HSMMtube	muscle
4	chr19:45606600-45612600	Weak transcription	Ovary	ovary
5	chr19:45606600-45618000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:45606600-45623400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:45606600-45624800	Weak transcription	NHEK	skin
8	chr19:45606800-45612400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:45606800-45614200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:45606800-45615200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:45606800-45616600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:45606800-45621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:45606800-45634000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:45607200-45613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:45607200-45616000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:45607200-45625600	Weak transcription	NHLF	lung
17	chr19:45607600-45615800	Weak transcription	Fetal Lung	lung
18	chr19:45607600-45616000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:45607600-45626600	Weak transcription	Fetal Brain Male	brain
20	chr19:45607800-45620400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:45607800-45620600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:45608000-45612600	Weak transcription	Fetal Stomach	stomach
23	chr19:45608000-45616600	Weak transcription	Brain Anterior Caudate	brain
24	chr19:45608000-45616800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:45608000-45618400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:45608000-45619800	Weak transcription	Brain Germinal Matrix	brain
27	chr19:45608000-45620800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:45608000-45639400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:45608200-45614000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:45608200-45616600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:45608200-45619800	Weak transcription	Adipose Nuclei	Adipose
32	chr19:45608400-45613800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr19:45608400-45614600	Weak transcription	Small Intestine	intestine
34	chr19:45608400-45615600	Weak transcription	HepG2	liver
35	chr19:45608400-45616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:45608400-45616600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr19:45608400-45629200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:45608600-45618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr19:45608600-45619400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:45608600-45619600	Weak transcription	Psoas Muscle	Psoas
41	chr19:45608600-45621000	Weak transcription	Fetal Brain Female	brain
42	chr19:45608800-45613000	Weak transcription	Lung	lung
43	chr19:45608800-45613800	Weak transcription	Left Ventricle	heart
44	chr19:45608800-45615600	Weak transcription	Primary T cells from cord blood	blood
45	chr19:45608800-45615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:45608800-45618600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:45608800-45618600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:45608800-45619600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:45609000-45616200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:45609000-45616400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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