Variant report

Variant	rs74146220
Chromosome Location	chr1:224831619-224831620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224702056..224704191-chr1:224831412..224833882,2	MCF-7	breast:
2	chr1:224701040..224701627-chr1:224831526..224832528,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56331910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56803202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56879180	1.00[AMR][1000 genomes]
rs57257659	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59093574	1.00[AMR][1000 genomes]
rs60017318	1.00[AMR][1000 genomes]
rs60031851	1.00[AMR][1000 genomes]
rs60681998	0.86[AFR][1000 genomes]
rs61674651	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146204	0.84[AFR][1000 genomes]
rs74146215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146221	0.89[AFR][1000 genomes]
rs74146224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146397	0.82[AFR][1000 genomes]
rs74149624	0.91[AFR][1000 genomes]
rs74149626	0.86[AFR][1000 genomes]
rs873832	0.82[AFR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
2	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224826400-224837800	Weak transcription	NHLF	lung
4	chr1:224827000-224839800	Weak transcription	HSMM	muscle
5	chr1:224828600-224834000	Weak transcription	Pancreas	Pancrea
6	chr1:224828600-224837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:224828800-224832400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:224829000-224832800	Weak transcription	Fetal Brain Male	brain
10	chr1:224829400-224832200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:224829400-224832200	Weak transcription	Dnd41	blood
12	chr1:224829400-224832400	Weak transcription	NHDF-Ad	bronchial
13	chr1:224829400-224832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:224829800-224831800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:224829800-224833200	Weak transcription	HSMMtube	muscle
16	chr1:224829800-224835200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:224830800-224835200	Weak transcription	NH-A	brain
18	chr1:224831200-224832200	Weak transcription	Liver	Liver
19	chr1:224831400-224832200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:224831400-224832600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:224831600-224831800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:224831600-224833800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:224831600-224835600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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