Variant report

Variant	rs12791282
Chromosome Location	chr11:120066044-120066045
allele	C/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:
2	chr11:120064484..120070047-chr11:120078272..120084162,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

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

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

rs_ID	r²[population]
rs12790585	0.80[AMR][1000 genomes]
rs12791393	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792820	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12795599	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12799647	0.82[AMR][1000 genomes]
rs12800456	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802402	0.82[AMR][1000 genomes]
rs12802652	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12807240	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808627	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12808972	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2076765	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35652094	0.81[EUR][1000 genomes]
rs880487	0.99[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
2	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
3	chr11:120058400-120066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:120058400-120066600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:120058400-120066800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:120059400-120067200	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:120060000-120067400	Weak transcription	Right Ventricle	heart
8	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
9	chr11:120062600-120066400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:120063200-120066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:120064000-120066200	Weak transcription	Fetal Brain Male	brain
12	chr11:120064200-120066400	Weak transcription	Fetal Lung	lung
13	chr11:120064200-120070400	Enhancers	Fetal Muscle Leg	muscle
14	chr11:120064400-120066400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:120064400-120066400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:120064400-120067200	Weak transcription	Small Intestine	intestine
17	chr11:120064400-120070200	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:120064600-120066600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:120064600-120067400	Enhancers	HepG2	liver
20	chr11:120064600-120069200	Weak transcription	Ovary	ovary
21	chr11:120064600-120069400	Weak transcription	Pancreas	Pancrea
22	chr11:120065200-120066800	Weak transcription	Liver	Liver
23	chr11:120065600-120071800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:120065800-120068200	Enhancers	Colonic Mucosa	Colon
25	chr11:120065800-120068200	Enhancers	Fetal Kidney	kidney
26	chr11:120065800-120068800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:120065800-120069400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:120065800-120070400	Enhancers	Fetal Stomach	stomach
29	chr11:120065800-120074600	Enhancers	Fetal Intestine Large	intestine
30	chr11:120066000-120067000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:120066000-120067600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:120066000-120068600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr11:120066000-120069200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:120066000-120069800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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