Variant report

Variant	rs12123950
Chromosome Location	chr1:226292324-226292325
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226291063..226294065-chr1:226297850..226301516,3	MCF-7	breast:
2	chr1:226248690..226250361-chr1:226290467..226292508,2	MCF-7	breast:
3	chr1:226290752..226294518-chr1:226294723..226300130,8	K562	blood:

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10915933	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10915938	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10915939	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10915940	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12130296	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12131977	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1877155	0.81[AFR][1000 genomes]
rs1877161	0.84[AFR][1000 genomes]
rs35152719	0.80[AFR][1000 genomes]
rs3887559	0.80[AFR][1000 genomes]
rs4570386	0.86[EUR][1000 genomes]
rs4592232	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4653715	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs67947191	0.80[AFR][1000 genomes]
rs72757092	0.80[AFR][1000 genomes]
rs9645314	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226281200-226295000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:226286200-226297200	Weak transcription	Hela-S3	cervix
3	chr1:226288600-226292400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:226288600-226296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:226288800-226292400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:226288800-226292400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:226288800-226292600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:226289000-226292400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:226289000-226292400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:226289000-226292400	Weak transcription	HSMM	muscle
11	chr1:226289000-226292400	Weak transcription	Osteobl	bone
12	chr1:226289000-226295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:226289000-226295200	Weak transcription	Stomach Mucosa	stomach
14	chr1:226289000-226295800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:226289000-226296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:226289000-226296400	Weak transcription	Right Atrium	heart
17	chr1:226289000-226296600	Weak transcription	Right Ventricle	heart
18	chr1:226289000-226296600	Weak transcription	NHLF	lung
19	chr1:226289000-226297000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:226289000-226297000	Weak transcription	HUVEC	blood vessel
21	chr1:226289200-226292400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:226289200-226292400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:226289200-226295200	Weak transcription	Esophagus	oesophagus
24	chr1:226289200-226297000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:226291800-226292400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:226291800-226292800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:226291800-226293000	Enhancers	HMEC	breast
28	chr1:226292000-226292600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:226292000-226292600	Enhancers	Placenta	Placenta
30	chr1:226292000-226292800	Enhancers	Fetal Muscle Trunk	muscle
31	chr1:226292000-226293000	Enhancers	Spleen	Spleen
32	chr1:226292000-226293000	Enhancers	HSMMtube	muscle
33	chr1:226292000-226293000	Enhancers	K562	blood
34	chr1:226292200-226292600	Enhancers	Lung	lung
35	chr1:226292200-226292800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:226292200-226292800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr1:226292200-226292800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:226292200-226292800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:226292200-226292800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:226292200-226293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:226292200-226293000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:226292200-226293000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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