Variant report

Variant	rs507950
Chromosome Location	chr18:12478645-12478646
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12477211..12478856-chr18:12483815..12485642,2	K562	blood:
2	chr18:12476285..12479022-chr18:12480958..12482478,2	K562	blood:
3	chr18:12478411..12479284-chr18:12659311..12660299,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1025387	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1785334	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1785339	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1785668	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs478139	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486743	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs513230	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533683	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541016	0.86[JPT][hapmap]
rs544366	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs548598	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552313	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs556757	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72877231	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72877247	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:12449800-12479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
4	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:12461800-12479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:12463400-12480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
10	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
11	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
12	chr18:12472600-12495200	Weak transcription	Colonic Mucosa	Colon
13	chr18:12474200-12480600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:12475200-12480400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:12475600-12478800	Strong transcription	Brain Hippocampus Middle	brain
16	chr18:12476600-12479200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:12476800-12479200	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr18:12476800-12480200	Strong transcription	Ovary	ovary
19	chr18:12476800-12480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:12476800-12480600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:12477000-12478800	Strong transcription	Fetal Lung	lung
22	chr18:12477000-12478800	Strong transcription	Placenta	Placenta
23	chr18:12477000-12478800	Strong transcription	Left Ventricle	heart
24	chr18:12477000-12479800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:12477000-12480000	Strong transcription	Brain Substantia Nigra	brain
26	chr18:12477000-12480600	Strong transcription	Adipose Nuclei	Adipose
27	chr18:12477000-12481000	Strong transcription	HSMM	muscle
28	chr18:12477000-12481200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:12477000-12482200	Strong transcription	HSMMtube	muscle
30	chr18:12477200-12478800	Strong transcription	Fetal Brain Female	brain
31	chr18:12477200-12478800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr18:12477200-12479600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:12477200-12479800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr18:12477200-12479800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:12477200-12479800	Strong transcription	Aorta	Aorta
36	chr18:12477200-12479800	Strong transcription	Fetal Muscle Leg	muscle
37	chr18:12477200-12479800	Strong transcription	Fetal Stomach	stomach
38	chr18:12477200-12480200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:12477200-12490800	Weak transcription	K562	blood
40	chr18:12477400-12478800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:12477400-12478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr18:12477400-12478800	Strong transcription	Fetal Kidney	kidney
43	chr18:12477400-12480000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr18:12477400-12480800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:12477600-12478800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:12477600-12478800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:12477600-12478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:12477600-12478800	Strong transcription	Liver	Liver
49	chr18:12477600-12478800	Strong transcription	Brain Anterior Caudate	brain
50	chr18:12477600-12478800	Strong transcription	Brain Cingulate Gyrus	brain

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