Variant report

Variant	rs12956144
Chromosome Location	chr18:8004324-8004325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11081349	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11081353	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11660124	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11660294	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661715	1.00[CEU][hapmap]
rs11664885	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11873208	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11873445	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11876715	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12185387	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13381562	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1468707	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17396187	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17476082	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1942957	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2044220	1.00[CEU][hapmap]
rs4461180	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6506543	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088882	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription 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
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8001000-8007600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8001400-8005600	Weak transcription	Psoas Muscle	Psoas
4	chr18:8001400-8006600	Weak transcription	Lung	lung
5	chr18:8001400-8029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8001400-8029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:8002000-8006000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:8002800-8006400	Weak transcription	A549	lung
9	chr18:8003200-8004800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:8003200-8005400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:8003200-8006600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:8003200-8006600	Enhancers	Brain Germinal Matrix	brain
13	chr18:8003400-8006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:8003600-8004400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr18:8003600-8004400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:8003600-8004400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:8003600-8004600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:8003600-8004600	Enhancers	Fetal Lung	lung
19	chr18:8003600-8004800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr18:8003600-8004800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:8003600-8004800	Enhancers	NH-A	brain
22	chr18:8003600-8005000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr18:8003600-8005000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr18:8003600-8005200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr18:8003600-8006800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:8003800-8004800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:8003800-8004800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:8003800-8004800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:8004000-8004400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr18:8004000-8004400	Flanking Active TSS	Aorta	Aorta
31	chr18:8004000-8004400	Enhancers	Fetal Heart	heart
32	chr18:8004000-8004400	Enhancers	HUVEC	blood vessel
33	chr18:8004000-8004400	Flanking Active TSS	Osteobl	bone
34	chr18:8004000-8004800	Enhancers	Fetal Stomach	stomach
35	chr18:8004000-8004800	Enhancers	Left Ventricle	heart
36	chr18:8004000-8004800	Enhancers	Right Atrium	heart
37	chr18:8004000-8006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:8004200-8004400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr18:8004200-8004400	Enhancers	Duodenum Mucosa	Duodenum
40	chr18:8004200-8004400	Active TSS	Ovary	ovary
41	chr18:8004200-8004600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:8004200-8004800	Enhancers	Adipose Nuclei	Adipose
43	chr18:8004200-8004800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:8004200-8004800	Enhancers	Right Ventricle	heart
45	chr18:8004200-8005000	Enhancers	Fetal Brain Male	brain
46	chr18:8004200-8005800	Enhancers	Fetal Brain Female	brain
47	chr18:8004200-8007600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr18:8004200-8020200	Weak transcription	Pancreas	Pancrea
49	chr18:8004200-8029000	Weak transcription	Gastric	stomach

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