Variant report

Variant	rs12462677
Chromosome Location	chr19:36487745-36487746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36487223..36488748-chr19:36599253..36601474,2	K562	blood:
2	chr19:36390580..36392436-chr19:36485968..36488161,2	K562	blood:
3	chr19:36485859..36488292-chr19:36497907..36499980,2	K562	blood:
4	chr19:36484913..36488286-chr19:36544915..36548972,3	MCF-7	breast:
5	chr19:36487282..36490058-chr19:36500834..36502670,2	K562	blood:
6	chr19:36487172..36489365-chr19:36529262..36531412,2	MCF-7	breast:
7	chr19:36485859..36488292-chr19:36497907..36499980,3	K562	blood:
8	chr19:36427517..36430098-chr19:36486010..36488671,2	K562	blood:
9	chr19:36467223..36468832-chr19:36487114..36488668,2	K562	blood:
10	chr19:36484527..36490376-chr19:36543488..36547183,11	K562	blood:
11	chr19:36484477..36488406-chr19:36502641..36506978,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181392	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000126243	Chromatin interaction
ENSG00000267698	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000239382	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1043822	0.84[ASN][1000 genomes]
rs10469279	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs12460721	0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs17720402	0.94[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2073893	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2285423	0.92[ASN][1000 genomes]
rs2285424	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs3810449	1.00[AFR][1000 genomes]
rs3810450	1.00[AFR][1000 genomes]
rs4458134	0.89[ASN][1000 genomes]
rs4806245	0.94[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs4806247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256169	0.94[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs7258897	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36485200-36487800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:36485600-36488000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36486200-36487800	Enhancers	Fetal Brain Male	brain
4	chr19:36486400-36487800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:36486400-36487800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:36486400-36487800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:36486400-36488000	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr19:36486400-36488000	Flanking Active TSS	Dnd41	blood
9	chr19:36486600-36487800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr19:36486600-36487800	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr19:36486600-36487800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:36486600-36487800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr19:36486600-36488000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:36486800-36487800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:36486800-36487800	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr19:36486800-36487800	Flanking Active TSS	K562	blood
17	chr19:36486800-36487800	Flanking Active TSS	NHEK	skin
18	chr19:36486800-36488000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:36486800-36488000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr19:36487000-36487800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr19:36487000-36487800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr19:36487000-36487800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:36487000-36487800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:36487000-36488000	Enhancers	Lung	lung
25	chr19:36487000-36488000	Flanking Active TSS	GM12878-XiMat	blood
26	chr19:36487000-36488200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:36487000-36489800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:36487000-36492400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:36487000-36493800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:36487200-36487800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr19:36487200-36487800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr19:36487200-36487800	Enhancers	Brain Substantia Nigra	brain
33	chr19:36487200-36487800	Enhancers	Fetal Lung	lung
34	chr19:36487200-36487800	Enhancers	Placenta	Placenta
35	chr19:36487200-36487800	Enhancers	Fetal Thymus	thymus
36	chr19:36487200-36487800	Enhancers	Left Ventricle	heart
37	chr19:36487200-36487800	Enhancers	Ovary	ovary
38	chr19:36487200-36487800	Enhancers	Right Ventricle	heart
39	chr19:36487200-36487800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr19:36487200-36487800	Enhancers	Osteobl	bone
41	chr19:36487200-36488000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:36487200-36488000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr19:36487200-36488000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:36487200-36488000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:36487200-36488000	Flanking Active TSS	HepG2	liver
46	chr19:36487200-36488200	Enhancers	Primary B cells from peripheral blood	blood
47	chr19:36487200-36488200	Enhancers	Esophagus	oesophagus
48	chr19:36487200-36488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:36487200-36488400	Enhancers	Primary B cells from cord blood	blood
50	chr19:36487200-36488400	Enhancers	Cortex derived primary cultured neurospheres	brain

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