Variant report

Variant	rs12800456
Chromosome Location	chr11:120063441-120063442
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	chr11:120061784..120063825-chr11:120078138..120080529,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12790585	0.82[AMR][1000 genomes]
rs12791282	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791393	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792820	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12795599	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12799647	0.83[AMR][1000 genomes]
rs12802402	0.83[AMR][1000 genomes]
rs12802652	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12807240	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807541	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808627	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12808972	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2076765	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35652094	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs880487	0.96[EUR][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

No data

Chromatin state (count:35 , 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	chr11:120058200-120063800	Weak transcription	Gastric	stomach
5	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
6	chr11:120058400-120066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:120058400-120066600	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:120058400-120066800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:120058600-120063800	Enhancers	Liver	Liver
10	chr11:120058800-120063800	Weak transcription	Fetal Heart	heart
11	chr11:120059400-120067200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:120059800-120063600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:120060000-120063600	Weak transcription	Esophagus	oesophagus
14	chr11:120060000-120067400	Weak transcription	Right Ventricle	heart
15	chr11:120060200-120063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:120061400-120063800	Weak transcription	Colonic Mucosa	Colon
17	chr11:120061400-120064600	Enhancers	Fetal Intestine Large	intestine
18	chr11:120061800-120063600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:120062000-120064000	Enhancers	Fetal Brain Male	brain
20	chr11:120062200-120063800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:120062200-120064400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:120062200-120065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
24	chr11:120062400-120064200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr11:120062600-120066400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:120062800-120063600	Weak transcription	Fetal Lung	lung
27	chr11:120063000-120063600	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:120063000-120064200	Enhancers	Placenta	Placenta
29	chr11:120063000-120064200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr11:120063000-120064600	Enhancers	Ovary	ovary
31	chr11:120063000-120064600	Enhancers	Pancreas	Pancrea
32	chr11:120063200-120065800	Weak transcription	Fetal Kidney	kidney
33	chr11:120063200-120066000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:120063200-120066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:120063400-120064400	Enhancers	Rectal Mucosa Donor 29	rectum

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