Variant report

Variant	rs11181518
Chromosome Location	chr12:42874911-42874912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42873360..42875217-chr12:42879532..42881198,2	K562	blood:
2	chr12:42873717..42875977-chr12:42879532..42881386,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10880305	0.91[ASN][1000 genomes]
rs11181519	0.86[EUR][1000 genomes]
rs12370828	0.86[EUR][1000 genomes]
rs1669925	0.89[ASN][1000 genomes]
rs1796340	0.90[ASN][1000 genomes]
rs3747564	0.86[EUR][1000 genomes]
rs3747565	0.86[EUR][1000 genomes]
rs56691329	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
3	chr12:42860200-42876200	Weak transcription	Gastric	stomach
4	chr12:42861400-42876000	Weak transcription	Lung	lung
5	chr12:42862800-42876000	Weak transcription	Aorta	Aorta
6	chr12:42863400-42875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:42863400-42876000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:42864400-42876000	Weak transcription	Spleen	Spleen
9	chr12:42864800-42875600	Weak transcription	Fetal Stomach	stomach
10	chr12:42866200-42876000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:42867000-42875800	Weak transcription	Right Atrium	heart
12	chr12:42867200-42875800	Weak transcription	Ovary	ovary
13	chr12:42869200-42875400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42869200-42875400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:42869400-42875200	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:42869400-42875200	Weak transcription	NHLF	lung
17	chr12:42869400-42875800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:42869400-42875800	Weak transcription	HSMM	muscle
19	chr12:42869400-42876000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:42869400-42876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:42869400-42876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:42869800-42876000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:42871600-42875000	Enhancers	HUVEC	blood vessel
24	chr12:42871800-42875400	Enhancers	Fetal Heart	heart
25	chr12:42872000-42875200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:42872200-42875200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:42872400-42875600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:42873400-42875200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:42873400-42876000	Weak transcription	GM12878-XiMat	blood
30	chr12:42874000-42875200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:42874000-42876000	Weak transcription	Pancreas	Pancrea
32	chr12:42874200-42875800	Enhancers	HSMMtube	muscle
33	chr12:42874200-42876400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:42874400-42875000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:42874400-42875000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:42874400-42875000	Enhancers	Rectal Smooth Muscle	rectum
37	chr12:42874400-42875200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:42874400-42875200	Enhancers	Osteobl	bone
39	chr12:42874400-42875400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:42874400-42875400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:42874400-42875600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:42874400-42875800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:42874400-42876400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:42874400-42876600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr12:42874600-42875000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr12:42874600-42875000	Weak transcription	Right Ventricle	heart
47	chr12:42874600-42875200	Enhancers	Fetal Lung	lung
48	chr12:42874600-42875200	Enhancers	NHEK	skin
49	chr12:42874600-42875600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:42874600-42875800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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