Variant report

Variant	rs12458258
Chromosome Location	chr18:12076365-12076366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12970359	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1815926	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1962196	1.00[CHB][hapmap]
rs2012779	0.84[EUR][1000 genomes]
rs2849394	0.81[EUR][1000 genomes]
rs2849395	0.81[EUR][1000 genomes]
rs2849396	0.81[EUR][1000 genomes]
rs2849397	0.81[EUR][1000 genomes]
rs2849398	0.80[EUR][1000 genomes]
rs2849399	0.81[EUR][1000 genomes]
rs2851911	0.81[EUR][1000 genomes]
rs2851912	0.81[EUR][1000 genomes]
rs34203217	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35815920	0.81[AMR][1000 genomes]
rs3923383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4386188	1.00[CHB][hapmap]
rs6505709	0.81[EUR][1000 genomes]
rs7230997	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7231547	0.87[YRI][hapmap]
rs7240023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9953936	1.00[CHB][hapmap]
rs9954357	1.00[CHB][hapmap]
rs9955653	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
13	nsv909395	chr18:12057195-12078224	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv909396	chr18:12058090-12078224	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv909397	chr18:12062004-12083314	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv828181	chr18:12065246-12091392	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv9608	chr18:12072482-12078283	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
2	chr18:12066000-12076400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:12068600-12076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12072200-12076400	Weak transcription	HUVEC	blood vessel
5	chr18:12074600-12077000	Active TSS	Fetal Brain Female	brain
6	chr18:12075400-12076600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr18:12076200-12076400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr18:12076200-12076400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr18:12076200-12076400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:12076200-12076400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr18:12076200-12076400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr18:12076200-12076400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:12076200-12076400	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
17	chr18:12076200-12076400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr18:12076200-12076600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:12076200-12076600	Bivalent Enhancer	K562	blood
21	chr18:12076200-12076600	Enhancers	NH-A	brain
22	chr18:12076200-12076800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:12076200-12076800	Active TSS	Adipose Nuclei	Adipose
24	chr18:12076200-12076800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr18:12076200-12077000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:12076200-12077000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:12076200-12077000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:12076200-12077000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:12076200-12077000	Active TSS	Fetal Muscle Trunk	muscle
30	chr18:12076200-12077000	Active TSS	Fetal Muscle Leg	muscle
31	chr18:12076200-12077000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr18:12076200-12077000	Active TSS	Osteobl	bone
33	chr18:12076200-12077200	Active TSS	A549	lung

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