Variant report

Variant	rs12454951
Chromosome Location	chr18:44458967-44458968
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12454431	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12454599	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[ASN][1000 genomes]
rs12455289	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12458820	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1434530	0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16940131	0.94[YRI][hapmap]
rs16940133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16948713	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3819124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3826586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6507721	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7230545	1.00[CEU][hapmap]
rs7236545	0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7237316	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8092951	0.94[YRI][hapmap]
rs8096561	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44437200-44461600	Weak transcription	Ovary	ovary
2	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
5	chr18:44449000-44468600	Weak transcription	NHLF	lung
6	chr18:44449800-44468400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:44450600-44460000	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr18:44450800-44468600	Weak transcription	Gastric	stomach
9	chr18:44451200-44468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:44451800-44460400	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr18:44452000-44460200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:44452800-44460200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr18:44453400-44468400	Weak transcription	HSMM	muscle
14	chr18:44454000-44468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:44454400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:44454600-44460800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr18:44454800-44460000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr18:44454800-44460400	ZNF genes & repeats	Dnd41	blood
19	chr18:44454800-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:44454800-44460600	Weak transcription	K562	blood
21	chr18:44455400-44460600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:44455600-44461200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr18:44456000-44460600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr18:44456200-44466000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr18:44456400-44459800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr18:44456600-44459000	Weak transcription	Fetal Kidney	kidney
27	chr18:44457000-44459200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
28	chr18:44457200-44459000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:44457200-44459400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr18:44457200-44459400	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr18:44457200-44460400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:44457400-44459000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr18:44457400-44459200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:44457400-44459800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr18:44457400-44460600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr18:44457600-44468400	Weak transcription	Small Intestine	intestine
37	chr18:44457800-44459000	Weak transcription	HSMMtube	muscle
38	chr18:44457800-44460000	Weak transcription	Aorta	Aorta
39	chr18:44457800-44460200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr18:44457800-44468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:44457800-44468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:44457800-44468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:44457800-44468400	Weak transcription	Adipose Nuclei	Adipose
44	chr18:44457800-44468400	Weak transcription	Lung	lung
45	chr18:44457800-44468400	Weak transcription	Psoas Muscle	Psoas
46	chr18:44457800-44468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:44457800-44468600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:44457800-44468600	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:44457800-44468600	Weak transcription	Left Ventricle	heart
50	chr18:44457800-44468600	Weak transcription	Right Ventricle	heart

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