Variant report

Variant	rs12459074
Chromosome Location	chr19:45608832-45608833
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45602690..45605477-chr19:45607182..45610015,3	K562	blood:
2	chr19:45606192..45609291-chr19:45618096..45620954,3	K562	blood:

Variant related genes	Relation type
ENSG00000104866	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1005451	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs10401157	0.92[ASN][1000 genomes]
rs10401823	0.95[ASN][1000 genomes]
rs10408847	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs10409727	0.80[CEU][hapmap]
rs10409903	0.80[CEU][hapmap]
rs10416500	0.87[ASN][1000 genomes]
rs10417101	0.80[CEU][hapmap]
rs10417618	0.80[CEU][hapmap]
rs10420562	0.92[ASN][1000 genomes]
rs10425074	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1048699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1114831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1114832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12462040	0.92[ASN][1000 genomes]
rs17562676	0.80[CEU][hapmap]
rs17562787	0.80[CEU][hapmap]
rs2004357	0.92[ASN][1000 genomes]
rs2041262	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28469095	0.92[ASN][1000 genomes]
rs28620490	0.92[ASN][1000 genomes]
rs34545713	0.92[ASN][1000 genomes]
rs3925162	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4608431	0.80[CEU][hapmap]
rs57565080	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7248421	0.92[ASN][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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45597400-45609400	Enhancers	Stomach Mucosa	stomach
2	chr19:45597600-45609200	Enhancers	Pancreas	Pancrea
3	chr19:45602000-45612200	Weak transcription	Hela-S3	cervix
4	chr19:45602800-45612600	Weak transcription	A549	lung
5	chr19:45603400-45609200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr19:45603600-45609200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr19:45603600-45612600	Weak transcription	Dnd41	blood
8	chr19:45603800-45619600	Weak transcription	HSMMtube	muscle
9	chr19:45604000-45609600	Enhancers	Fetal Muscle Leg	muscle
10	chr19:45604200-45609200	Enhancers	Spleen	Spleen
11	chr19:45604200-45611200	Weak transcription	K562	blood
12	chr19:45604600-45609200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr19:45605200-45609200	Enhancers	Gastric	stomach
14	chr19:45605200-45609400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr19:45605800-45609000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:45605800-45609400	Enhancers	Brain Hippocampus Middle	brain
17	chr19:45605800-45609400	Enhancers	Placenta	Placenta
18	chr19:45605800-45610000	Enhancers	Right Ventricle	heart
19	chr19:45606000-45609000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:45606000-45609200	Enhancers	Primary hematopoietic stem cells	blood
21	chr19:45606600-45609400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr19:45606600-45612600	Weak transcription	Ovary	ovary
23	chr19:45606600-45618000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:45606600-45623400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:45606600-45624800	Weak transcription	NHEK	skin
26	chr19:45606800-45609000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:45606800-45609000	Enhancers	Right Atrium	heart
28	chr19:45606800-45609000	Weak transcription	HSMM	muscle
29	chr19:45606800-45609200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr19:45606800-45609200	Enhancers	Fetal Thymus	thymus
31	chr19:45606800-45609400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:45606800-45609400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:45606800-45609400	Enhancers	Brain Substantia Nigra	brain
34	chr19:45606800-45610200	Weak transcription	Osteobl	bone
35	chr19:45606800-45612400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:45606800-45614200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:45606800-45615200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:45606800-45616600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:45606800-45621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:45606800-45634000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:45607000-45609200	Enhancers	Primary B cells from cord blood	blood
42	chr19:45607000-45609200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr19:45607000-45609200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr19:45607000-45611800	Enhancers	Primary B cells from peripheral blood	blood
45	chr19:45607200-45609000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr19:45607200-45613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr19:45607200-45616000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:45607200-45625600	Weak transcription	NHLF	lung
49	chr19:45607400-45609000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:45607400-45609200	Enhancers	Brain Angular Gyrus	brain

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