Variant report

Variant	rs12131256
Chromosome Location	chr1:224819977-224819978
allele	A/G
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]
rs12124222	0.86[ASN][1000 genomes]
rs12564263	0.81[ASN][1000 genomes]
rs1353837	0.81[ASN][1000 genomes]
rs16850250	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.81[ASN][1000 genomes]
rs58012510	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6658957	0.81[ASN][1000 genomes]
rs6672460	0.90[JPT][hapmap];0.86[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224812800-224825200	Weak transcription	HMEC	breast
2	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:224813000-224820200	Weak transcription	Dnd41	blood
4	chr1:224814600-224823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:224815600-224823200	Enhancers	Fetal Brain Male	brain
6	chr1:224816000-224820200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:224816200-224822600	Enhancers	Fetal Brain Female	brain
8	chr1:224816400-224820400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:224816400-224820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:224817400-224820000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:224817800-224820200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:224818800-224822600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:224819000-224820000	Enhancers	Fetal Kidney	kidney
15	chr1:224819000-224821200	Enhancers	Osteobl	bone
16	chr1:224819000-224821400	Enhancers	Ovary	ovary
17	chr1:224819000-224823400	Enhancers	NHDF-Ad	bronchial
18	chr1:224819200-224821000	Enhancers	NHLF	lung
19	chr1:224819200-224821200	Enhancers	Pancreas	Pancrea
20	chr1:224819400-224820000	Enhancers	Brain Germinal Matrix	brain
21	chr1:224819400-224820800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:224819400-224820800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:224819400-224820800	Enhancers	HUVEC	blood vessel
24	chr1:224819400-224820800	Flanking Active TSS	NH-A	brain
25	chr1:224819400-224821400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:224819400-224824200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:224819600-224820400	Enhancers	Brain Hippocampus Middle	brain
28	chr1:224819600-224821000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:224819800-224820000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:224819800-224820200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:224819800-224820200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:224819800-224820200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:224819800-224820200	Enhancers	Spleen	Spleen
34	chr1:224819800-224820400	Enhancers	Right Atrium	heart
35	chr1:224819800-224820600	Enhancers	Fetal Lung	lung
36	chr1:224819800-224820800	Enhancers	HSMM	muscle
37	chr1:224819800-224821000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:224819800-224821400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:224819800-224821600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:224819800-224822600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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