Variant report

Variant	rs2160524
Chromosome Location	chr12:12263312-12263313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11054689	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11054690	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4763271	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv976579	chr12:12253001-12266723	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528912	chr12:12253591-12266041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	esv3483063	chr12:12263213-12263828	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3331311	chr12:12263263-12263780	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3526691	chr12:12263266-12263726	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv3386159	chr12:12263266-12263728	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv3325001	chr12:12263268-12263796	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv3341361	chr12:12263280-12263721	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv3483029	chr12:12263298-12263799	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv3526692	chr12:12263299-12263723	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
14	esv3526693	chr12:12263299-12263726	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
15	esv3483040	chr12:12263305-12263782	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:12245800-12263800	Weak transcription	Pancreas	Pancrea
5	chr12:12245800-12266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:12246400-12272000	Weak transcription	Osteobl	bone
7	chr12:12248200-12271800	Weak transcription	Fetal Kidney	kidney
8	chr12:12252800-12276200	Weak transcription	Fetal Heart	heart
9	chr12:12258200-12274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:12260800-12265800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:12260800-12273400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:12260800-12276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:12260800-12277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:12261000-12263800	Weak transcription	Lung	lung
15	chr12:12261000-12271400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:12261000-12276800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:12261200-12268800	Weak transcription	HSMM	muscle
18	chr12:12261200-12273000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:12261200-12273400	Weak transcription	HSMMtube	muscle
20	chr12:12261200-12274000	Weak transcription	Ovary	ovary
21	chr12:12261200-12277000	Weak transcription	Hela-S3	cervix
22	chr12:12261400-12263800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:12261400-12275800	Weak transcription	NH-A	brain
24	chr12:12261600-12301400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:12261800-12271600	Weak transcription	Primary T cells from cord blood	blood
26	chr12:12261800-12271600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:12261800-12288000	Weak transcription	Gastric	stomach
28	chr12:12262000-12265800	Weak transcription	A549	lung
29	chr12:12262200-12264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:12262200-12265800	Weak transcription	Liver	Liver
31	chr12:12262200-12271200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:12262200-12277200	Weak transcription	Brain Germinal Matrix	brain
33	chr12:12262400-12263800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:12262400-12265800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:12262400-12268000	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:12262400-12268400	Weak transcription	Fetal Brain Female	brain
37	chr12:12262400-12271800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:12262400-12277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:12262600-12263800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:12262600-12265000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:12262600-12265400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:12262600-12272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:12262800-12263800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:12262800-12265600	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:12262800-12272600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:12262800-12273000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:12262800-12273400	Weak transcription	Left Ventricle	heart
49	chr12:12262800-12284800	Weak transcription	Aorta	Aorta
50	chr12:12263000-12266000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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