Variant report

Variant	rs12072662
Chromosome Location	chr1:220185129-220185130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:220185061-220185263	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:220184329-220186261	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220177307..220179895-chr1:220184539..220186379,2	K562	blood:
2	chr1:220183779..220186037-chr1:220201298..220203530,2	K562	blood:
3	chr1:220166855..220169233-chr1:220184126..220185704,2	K562	blood:
4	chr1:220183714..220185388-chr1:220190799..220194584,3	K562	blood:
5	chr1:220178050..220179958-chr1:220184112..220186105,3	K562	blood:

No data

Variant related genes	Relation type
EPRS	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11118488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060231	1.00[AFR][1000 genomes]
rs12079635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080935	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090303	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5030751	1.00[AFR][1000 genomes]
rs6690280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084894	0.84[AFR][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	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	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
3	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:220166000-220189200	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:220166400-220199800	Strong transcription	K562	blood
12	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:220166600-220185200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:220166600-220188400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr1:220166800-220199000	Strong transcription	Dnd41	blood
19	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:220167600-220185600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
23	chr1:220168200-220185600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:220170600-220186600	Weak transcription	Fetal Heart	heart
28	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:220174200-220188400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:220174400-220187800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:220174400-220198600	Strong transcription	Primary T cells from cord blood	blood
32	chr1:220174800-220185800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:220176000-220187200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:220176000-220188200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:220176200-220189400	Strong transcription	HMEC	breast
37	chr1:220176200-220194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:220176600-220200200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:220177600-220197800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:220178000-220185600	Weak transcription	Aorta	Aorta
43	chr1:220178000-220187800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:220178000-220190800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:220178000-220195400	Weak transcription	Gastric	stomach
46	chr1:220178000-220197400	Weak transcription	Fetal Brain Male	brain
47	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
48	chr1:220178200-220192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
50	chr1:220179000-220191800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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