Variant report

Variant	rs74146218
Chromosome Location	chr1:224828115-224828116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224826905..224830184-chr1:224832363..224835221,3	K562	blood:
2	chr1:224805248..224807412-chr1:224827891..224830752,2	K562	blood:
3	chr1:224827571..224830505-chr1:224833018..224834842,2	K562	blood:
4	chr1:224701145..224702114-chr1:224827945..224829840,21	MCF-7	breast:
5	chr1:224821183..224823060-chr1:224827666..224830231,2	K562	blood:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12239521	0.91[ASN][1000 genomes]
rs16851979	0.91[ASN][1000 genomes]
rs56331910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56803202	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56879180	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57247814	1.00[ASN][1000 genomes]
rs57257659	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58011163	1.00[ASN][1000 genomes]
rs58316565	0.91[ASN][1000 genomes]
rs58632343	1.00[ASN][1000 genomes]
rs58793647	0.91[ASN][1000 genomes]
rs58973007	0.91[ASN][1000 genomes]
rs59093574	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59151274	0.91[ASN][1000 genomes]
rs60017318	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60031851	1.00[AMR][1000 genomes]
rs60228269	0.80[ASN][1000 genomes]
rs60936981	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61625041	0.91[ASN][1000 genomes]
rs61631299	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61674651	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426151	0.91[ASN][1000 genomes]
rs6661687	0.91[ASN][1000 genomes]
rs6680134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692860	0.91[ASN][1000 genomes]
rs74146215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146221	0.81[AFR][1000 genomes]
rs74146224	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149624	0.82[AFR][1000 genomes]
rs7513442	0.91[ASN][1000 genomes]
rs7545558	0.91[ASN][1000 genomes]
rs7555388	0.91[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
4	chr1:224825200-224828600	Enhancers	Pancreas	Pancrea
5	chr1:224825200-224829400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:224825800-224828800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:224826000-224828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:224826000-224829800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:224826200-224829200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:224826400-224828400	Weak transcription	Dnd41	blood
12	chr1:224826400-224828600	Genic enhancers	NHDF-Ad	bronchial
13	chr1:224826400-224831400	Weak transcription	Thymus	Thymus
14	chr1:224826400-224837800	Weak transcription	NHLF	lung
15	chr1:224827000-224829000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:224827000-224839800	Weak transcription	HSMM	muscle
17	chr1:224827200-224828600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:224827400-224828600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:224827400-224828800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:224827600-224828200	Enhancers	HSMMtube	muscle
21	chr1:224827600-224828400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:224827600-224829000	Enhancers	Fetal Brain Male	brain
23	chr1:224827800-224828200	Enhancers	Fetal Brain Female	brain
24	chr1:224827800-224828400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:224827800-224828400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:224827800-224828600	Genic enhancers	NH-A	brain
27	chr1:224828000-224828600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:224828000-224829000	Enhancers	Gastric	stomach

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