Variant report

Variant	rs12566572
Chromosome Location	chr1:227109444-227109445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12564262	1.00[ASN][1000 genomes]
rs12564719	0.90[ASN][1000 genomes]
rs12565820	1.00[ASN][1000 genomes]
rs12566367	1.00[ASN][1000 genomes]
rs16846674	0.91[ASN][1000 genomes]
rs2077734	0.81[ASN][1000 genomes]
rs56070668	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227082800-227110600	Weak transcription	Fetal Brain Female	brain
2	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:227088400-227111600	Weak transcription	Spleen	Spleen
4	chr1:227088800-227111400	Weak transcription	A549	lung
5	chr1:227088800-227118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:227092000-227111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:227092000-227115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:227092000-227118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:227092200-227109600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:227092200-227111600	Weak transcription	Esophagus	oesophagus
11	chr1:227092200-227116200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:227092200-227118800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:227098600-227118600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:227102800-227119000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:227102800-227125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:227103600-227110200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:227103800-227110000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:227106400-227109800	Enhancers	Pancreas	Pancrea
19	chr1:227106600-227109600	Enhancers	HepG2	liver
20	chr1:227107000-227109600	Enhancers	Ovary	ovary
21	chr1:227107000-227111000	Weak transcription	Aorta	Aorta
22	chr1:227107000-227112000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:227107200-227109600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:227107200-227109600	Enhancers	Right Atrium	heart
25	chr1:227107200-227109800	Enhancers	Fetal Heart	heart
26	chr1:227107400-227109600	Enhancers	Adipose Nuclei	Adipose
27	chr1:227107400-227109800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:227107600-227111200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:227108000-227110600	Weak transcription	Left Ventricle	heart
30	chr1:227108000-227111400	Weak transcription	Right Ventricle	heart
31	chr1:227108200-227109600	Enhancers	Brain Substantia Nigra	brain
32	chr1:227108200-227109600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:227108200-227109600	Enhancers	HSMMtube	muscle
34	chr1:227108200-227121200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:227108600-227111400	Weak transcription	Gastric	stomach
36	chr1:227108800-227111200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:227109000-227109600	Enhancers	Psoas Muscle	Psoas
38	chr1:227109200-227109600	Enhancers	Brain Cingulate Gyrus	brain
39	chr1:227109400-227109800	ZNF genes & repeats	Lung	lung

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