Variant report

Variant	rs11051521
Chromosome Location	chr12:31818885-31818886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11051517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11051522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051535	0.87[AMR][1000 genomes]
rs11051546	0.87[AMR][1000 genomes]
rs11051547	0.87[AMR][1000 genomes]
rs4931538	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4931546	0.87[AMR][1000 genomes]
rs7959989	0.84[AMR][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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31812800-31819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:31812800-31823800	Weak transcription	Small Intestine	intestine
3	chr12:31813000-31822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:31813000-31822000	Weak transcription	NH-A	brain
5	chr12:31813000-31826000	Weak transcription	Gastric	stomach
6	chr12:31813200-31822000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:31813200-31837000	Weak transcription	Fetal Brain Male	brain
8	chr12:31813400-31820600	Weak transcription	HSMMtube	muscle
9	chr12:31813400-31820800	Weak transcription	Ovary	ovary
10	chr12:31813400-31821600	Weak transcription	Thymus	Thymus
11	chr12:31813400-31821800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:31813400-31821800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:31813400-31821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:31813400-31821800	Weak transcription	Fetal Lung	lung
15	chr12:31813400-31822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:31813400-31822000	Weak transcription	Brain Anterior Caudate	brain
17	chr12:31813400-31822000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:31813400-31822000	Weak transcription	Psoas Muscle	Psoas
19	chr12:31813400-31822000	Weak transcription	Right Ventricle	heart
20	chr12:31813400-31822200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:31813400-31822200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:31813400-31825200	Weak transcription	Aorta	Aorta
23	chr12:31813400-31825400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:31813400-31825600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:31813400-31826600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:31813400-31835200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:31813400-31835600	Weak transcription	Brain Angular Gyrus	brain
28	chr12:31813400-31836200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:31813600-31821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:31813800-31821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:31814200-31821800	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:31814200-31821800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:31815200-31822000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:31815200-31840600	Weak transcription	Pancreas	Pancrea
35	chr12:31815400-31822200	Weak transcription	Lung	lung
36	chr12:31815600-31821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:31815800-31826200	Weak transcription	Brain Substantia Nigra	brain
38	chr12:31816000-31821600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:31816000-31821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:31816000-31821800	Weak transcription	Adipose Nuclei	Adipose
41	chr12:31816000-31822000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:31816400-31822200	Weak transcription	Left Ventricle	heart
43	chr12:31816600-31820600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:31816600-31821800	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:31817200-31819000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:31817200-31821600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:31817200-31822200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:31817400-31820600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:31817400-31821800	Weak transcription	Fetal Kidney	kidney
50	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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