Variant report

Variant	rs12057468
Chromosome Location	chr1:220218746-220218747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220009776..220012687-chr1:220217353..220218943,2	K562	blood:
2	chr1:220215698..220221065-chr1:220265352..220268996,5	K562	blood:
3	chr1:220138957..220140569-chr1:220217050..220219686,2	K562	blood:
4	chr1:220190580..220193578-chr1:220217938..220219443,2	K562	blood:
5	chr1:220218169..220221765-chr1:220261064..220269153,11	MCF-7	breast:
6	chr1:220217537..220219750-chr1:220295098..220297083,2	K562	blood:
7	chr1:220214211..220216766-chr1:220216909..220219452,2	MCF-7	breast:
8	chr1:220209718..220212778-chr1:220216575..220219154,4	K562	blood:
9	chr1:220215698..220219502-chr1:220266015..220268343,4	K562	blood:
10	chr1:220218207..220221672-chr1:220261461..220265020,3	K562	blood:
11	chr1:220218535..220220494-chr1:220265581..220269628,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162813	Chromatin interaction
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10495143	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10779393	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10863523	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10863525	0.82[AMR][1000 genomes]
rs11118483	0.82[AMR][1000 genomes]
rs11118490	0.82[AMR][1000 genomes]
rs12022181	0.82[AMR][1000 genomes]
rs12046562	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048112	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12068478	0.82[AMR][1000 genomes]
rs2270709	0.82[AMR][1000 genomes]
rs2291836	0.81[AFR][1000 genomes]
rs28758924	0.82[AMR][1000 genomes]
rs3767669	0.81[AFR][1000 genomes]
rs3820457	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55675937	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61421597	0.81[AFR][1000 genomes]
rs61830370	0.82[AMR][1000 genomes]
rs61830401	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61830404	0.82[AMR][1000 genomes]
rs6674466	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220206800-220219000	Weak transcription	Fetal Lung	lung
2	chr1:220213400-220219000	Weak transcription	Ovary	ovary
3	chr1:220213400-220219200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:220213400-220219400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:220213400-220219400	Weak transcription	Spleen	Spleen
6	chr1:220213600-220219000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:220213800-220218800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:220215600-220218800	Weak transcription	Fetal Stomach	stomach
9	chr1:220216400-220218800	Enhancers	Fetal Intestine Large	intestine
10	chr1:220216800-220218800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:220216800-220218800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:220217400-220220800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:220217600-220219000	Flanking Active TSS	Dnd41	blood
14	chr1:220217800-220218800	Flanking Active TSS	Hela-S3	cervix
15	chr1:220217800-220219000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:220217800-220220400	Active TSS	Aorta	Aorta
17	chr1:220218000-220218800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:220218000-220218800	Flanking Active TSS	NHEK	skin
19	chr1:220218000-220219000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:220218000-220219000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:220218000-220219000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:220218000-220219000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr1:220218000-220219000	Weak transcription	Small Intestine	intestine
24	chr1:220218000-220219200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:220218000-220219200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:220218000-220220400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:220218000-220220600	Active TSS	NHLF	lung
28	chr1:220218200-220218800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:220218200-220218800	Enhancers	Primary T cells from cord blood	blood
30	chr1:220218200-220218800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:220218200-220218800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:220218200-220218800	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr1:220218200-220218800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:220218200-220219000	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:220218200-220219000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr1:220218200-220219000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:220218200-220219000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr1:220218200-220219000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:220218200-220219400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:220218200-220219400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:220218200-220219400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:220218200-220219400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:220218200-220219400	Flanking Active TSS	Osteobl	bone
44	chr1:220218200-220220400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:220218200-220220400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:220218200-220220600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:220218200-220220600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:220218200-220220600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220218400-220218800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:220218400-220218800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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