Variant report

Variant	rs11172806
Chromosome Location	chr12:59292402-59292403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1020031	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10877182	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10877183	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10877185	0.89[EUR][1000 genomes]
rs10877187	0.80[EUR][1000 genomes]
rs11172795	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11172797	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11172801	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11172802	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172805	0.89[EUR][1000 genomes]
rs11172807	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172808	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11172809	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172811	0.89[EUR][1000 genomes]
rs11172812	0.89[EUR][1000 genomes]
rs11172816	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11172817	0.89[EUR][1000 genomes]
rs11172818	0.89[EUR][1000 genomes]
rs12146851	0.84[EUR][1000 genomes]
rs12426555	0.80[EUR][1000 genomes]
rs17120227	0.84[EUR][1000 genomes]
rs17617428	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2167030	0.89[EUR][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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59262600-59295000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
3	chr12:59275000-59300800	Weak transcription	HSMMtube	muscle
4	chr12:59275200-59297800	Weak transcription	Hela-S3	cervix
5	chr12:59279000-59310800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:59279200-59309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:59282400-59297800	Weak transcription	A549	lung
8	chr12:59283400-59298000	Weak transcription	Fetal Brain Male	brain
9	chr12:59283800-59300400	Weak transcription	Placenta	Placenta
10	chr12:59284000-59294800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:59284000-59297800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:59284000-59297800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:59284000-59298000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:59284000-59298000	Weak transcription	HSMM	muscle
15	chr12:59284000-59300800	Weak transcription	Colonic Mucosa	Colon
16	chr12:59284000-59300800	Weak transcription	HepG2	liver
17	chr12:59284200-59297800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:59284200-59297800	Weak transcription	Liver	Liver
19	chr12:59284200-59304600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:59284600-59298000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:59286000-59292600	Enhancers	NHEK	skin
22	chr12:59286800-59298000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:59287600-59297800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:59287800-59297800	Weak transcription	NH-A	brain
25	chr12:59287800-59298000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:59287800-59301800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:59288000-59293400	Weak transcription	NHDF-Ad	bronchial
28	chr12:59288000-59297800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:59288000-59297800	Weak transcription	Osteobl	bone
30	chr12:59288200-59298000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:59288200-59298600	Weak transcription	NHLF	lung
32	chr12:59288600-59293000	Enhancers	Ovary	ovary
33	chr12:59288600-59295200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:59288800-59297800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:59289200-59295800	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:59289200-59297800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:59289200-59298000	Weak transcription	HUVEC	blood vessel
38	chr12:59289200-59300800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:59289400-59297800	Weak transcription	Fetal Intestine Large	intestine
40	chr12:59289400-59301200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:59289600-59297800	Weak transcription	Adipose Nuclei	Adipose
42	chr12:59289600-59300800	Weak transcription	Aorta	Aorta
43	chr12:59289800-59294600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:59289800-59297800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:59289800-59297800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:59289800-59297800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:59289800-59298000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:59289800-59300800	Weak transcription	Lung	lung
49	chr12:59289800-59304600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:59289800-59305400	Weak transcription	Spleen	Spleen

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