Variant report

Variant	rs11664219
Chromosome Location	chr18:12531015-12531016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12396554..12398179-chr18:12529767..12532536,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10048276	0.87[ASN][1000 genomes]
rs11660232	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11662531	0.87[ASN][1000 genomes]
rs11663358	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11664013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11664068	0.87[ASN][1000 genomes]
rs11664232	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs11664773	1.00[ASN][1000 genomes]
rs11665415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592641	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16973057	0.83[AFR][1000 genomes]
rs16977205	0.85[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs16977214	0.83[AFR][1000 genomes]
rs16977227	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs17595746	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1940973	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2040197	0.83[AFR][1000 genomes]
rs2155699	1.00[ASN][1000 genomes]
rs2186906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28527375	1.00[ASN][1000 genomes]
rs28565322	1.00[ASN][1000 genomes]
rs28575715	1.00[ASN][1000 genomes]
rs28634564	0.87[ASN][1000 genomes]
rs28663159	1.00[ASN][1000 genomes]
rs28815517	1.00[ASN][1000 genomes]
rs28821540	1.00[ASN][1000 genomes]
rs4566245	0.85[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4797687	0.85[CEU][hapmap]
rs4797689	0.85[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs56029848	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56870830	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57706356	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58500351	0.83[AFR][1000 genomes]
rs58638386	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60563648	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61027502	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73403754	0.83[AFR][1000 genomes]
rs73405602	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407510	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407511	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407524	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407540	0.90[AFR][1000 genomes]
rs9946557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9953831	1.00[JPT][hapmap]
rs9959145	1.00[ASN][1000 genomes]
rs9959201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960706	0.87[ASN][1000 genomes]
rs9966118	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9967026	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9989546	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
2	chr18:12492200-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
4	chr18:12493000-12541200	Weak transcription	NHEK	skin
5	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:12505200-12536800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:12507400-12535200	Weak transcription	Fetal Muscle Leg	muscle
8	chr18:12509400-12539200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:12511400-12551800	Weak transcription	Lung	lung
10	chr18:12516000-12553200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:12516400-12539000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:12516600-12536600	Weak transcription	Right Ventricle	heart
13	chr18:12516600-12555000	Weak transcription	Aorta	Aorta
14	chr18:12516800-12534400	Weak transcription	HUVEC	blood vessel
15	chr18:12518600-12531200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:12518600-12540000	Weak transcription	Adipose Nuclei	Adipose
17	chr18:12518600-12551800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:12519000-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:12520800-12532800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:12520800-12533000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr18:12520800-12543400	Weak transcription	Osteobl	bone
22	chr18:12520800-12551800	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:12520800-12552000	Weak transcription	NHLF	lung
24	chr18:12521000-12531200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr18:12521000-12533000	Weak transcription	Brain Angular Gyrus	brain
26	chr18:12521000-12533000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr18:12521000-12533200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr18:12521000-12533400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr18:12521000-12539200	Weak transcription	Fetal Stomach	stomach
30	chr18:12521000-12542000	Weak transcription	Ovary	ovary
31	chr18:12521000-12542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:12521000-12552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:12521200-12538600	Weak transcription	Brain Germinal Matrix	brain
34	chr18:12521600-12536400	Weak transcription	Left Ventricle	heart
35	chr18:12525600-12540800	Weak transcription	Gastric	stomach
36	chr18:12526200-12532800	Weak transcription	Fetal Brain Male	brain
37	chr18:12526400-12534200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:12526400-12534600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:12526400-12534600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:12526400-12541400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr18:12526600-12532800	Weak transcription	Fetal Brain Female	brain
42	chr18:12526600-12532800	Weak transcription	HSMMtube	muscle
43	chr18:12526800-12532800	Weak transcription	HSMM	muscle
44	chr18:12528800-12534000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr18:12529400-12532200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:12530400-12532000	Enhancers	Psoas Muscle	Psoas
47	chr18:12530600-12536000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:12530600-12540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:12530600-12541000	Weak transcription	HMEC	breast
50	chr18:12530600-12551600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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