Variant report

Variant	rs12420591
Chromosome Location	chr11:120061195-120061196
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	chr11:120059739..120061445-chr11:120064333..120066641,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12291620	0.89[ASN][1000 genomes]
rs12422179	0.93[ASN][1000 genomes]
rs17311212	0.88[EUR][1000 genomes]
rs2084897	0.87[EUR][1000 genomes]
rs2084898	0.87[EUR][1000 genomes]
rs2084899	0.87[EUR][1000 genomes]
rs55920307	0.87[EUR][1000 genomes]
rs56339619	0.81[EUR][1000 genomes]
rs56391092	0.86[EUR][1000 genomes]
rs60336713	0.88[EUR][1000 genomes]
rs66553012	0.88[EUR][1000 genomes]
rs7114201	0.88[EUR][1000 genomes]
rs7116650	0.89[EUR][1000 genomes]
rs7118957	0.91[ASN][1000 genomes]
rs7119349	0.91[ASN][1000 genomes]
rs7119458	0.86[ASN][1000 genomes]
rs7119954	0.89[EUR][1000 genomes]
rs73004754	0.88[EUR][1000 genomes]
rs73004764	0.93[EUR][1000 genomes]
rs73004786	0.90[EUR][1000 genomes]
rs73004793	0.97[EUR][1000 genomes]
rs880487	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12420591	OAF	cis	Heart Left Ventricle	GTEx
rs12420591	OAF	cis	Thyroid	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120056000-120064600	Enhancers	Fetal Stomach	stomach
2	chr11:120057800-120063600	Enhancers	HepG2	liver
3	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
4	chr11:120058200-120061600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120058200-120063800	Weak transcription	Gastric	stomach
6	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
7	chr11:120058400-120061200	Enhancers	Stomach Mucosa	stomach
8	chr11:120058400-120061400	Enhancers	Colonic Mucosa	Colon
9	chr11:120058400-120061800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:120058400-120062000	Weak transcription	Fetal Brain Male	brain
11	chr11:120058400-120066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120058400-120066600	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:120058400-120066800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:120058600-120061600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:120058600-120061800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:120058600-120063800	Enhancers	Liver	Liver
17	chr11:120058800-120061800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:120058800-120062400	Enhancers	Fetal Muscle Leg	muscle
19	chr11:120058800-120063800	Weak transcription	Fetal Heart	heart
20	chr11:120059000-120061800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr11:120059000-120062000	Weak transcription	Fetal Brain Female	brain
22	chr11:120059200-120061400	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr11:120059200-120062000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:120059400-120061600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:120059400-120062400	Weak transcription	Fetal Lung	lung
26	chr11:120059400-120067200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:120059800-120063600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:120060000-120061200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:120060000-120063600	Weak transcription	Esophagus	oesophagus
30	chr11:120060000-120067400	Weak transcription	Right Ventricle	heart
31	chr11:120060200-120061400	Weak transcription	Ovary	ovary
32	chr11:120060200-120061800	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:120060200-120062400	Weak transcription	Fetal Kidney	kidney
34	chr11:120060200-120063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:120060800-120061200	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr11:120060800-120063000	Weak transcription	Pancreas	Pancrea

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