Variant report

Variant	rs72746572
Chromosome Location	chr1:212004893-212004894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:212003788-212005299	GM12878	blood:	n/a	chr1:212005052-212005063 chr1:212005053-212005062 chr1:212005051-212005064 chr1:212005053-212005063 chr1:212005052-212005062
2	MTA3	chr1:212004856-212005390	GM12878	blood:	n/a	n/a
3	EBF1	chr1:212004812-212005218	GM12878	blood:	n/a	chr1:212005052-212005063 chr1:212005053-212005062 chr1:212005051-212005064 chr1:212005053-212005063 chr1:212005052-212005062
4	SPI1	chr1:212004592-212005564	GM12878	blood:	n/a	chr1:212005157-212005166 chr1:212005153-212005162 chr1:212005155-212005168
5	EBF1	chr1:212004797-212005234	GM12878	blood:	n/a	chr1:212005052-212005063 chr1:212005053-212005062 chr1:212005051-212005064 chr1:212005053-212005063 chr1:212005052-212005062
6	MXI1	chr1:212004769-212005888	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:

Variant related genes	Relation type
LPGAT1	TF binding region
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1065607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863931	0.97[EUR][1000 genomes]
rs11119810	0.83[ASN][1000 genomes]
rs11119811	0.83[ASN][1000 genomes]
rs11119812	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119823	0.97[EUR][1000 genomes]
rs1126968	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046293	0.83[ASN][1000 genomes]
rs12116638	0.83[ASN][1000 genomes]
rs12119787	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12120603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12122929	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123135	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12123189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12123889	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12125042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126561	0.83[ASN][1000 genomes]
rs12126667	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126742	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128147	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128221	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12129315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129627	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12131727	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134302	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12136792	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138283	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139336	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12142878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144072	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12144745	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12145346	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12145721	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562791	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562933	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12563633	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12564498	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565546	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566620	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12568179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018028	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17018048	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17042024	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2298095	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28695463	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4132401	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364936	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55648545	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55687837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55794431	0.97[EUR][1000 genomes]
rs55836176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55843903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074728	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56160062	0.97[EUR][1000 genomes]
rs56225609	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56295475	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56318540	0.95[EUR][1000 genomes]
rs72746513	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72746521	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72746524	0.83[ASN][1000 genomes]
rs72746525	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72746529	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72746531	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72746535	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72746563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746569	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746579	0.95[EUR][1000 genomes]
rs72746583	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72747044	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72747049	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72748518	0.97[EUR][1000 genomes]
rs72748525	0.97[EUR][1000 genomes]
rs7526682	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3325021	chr1:212002754-212005502	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212003200-212005000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:212003200-212005000	Active TSS	NHEK	skin
3	chr1:212004200-212005000	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr1:212004200-212005000	Flanking Active TSS	Dnd41	blood
5	chr1:212004200-212005400	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:212004400-212005200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr1:212004600-212005000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:212004600-212005000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:212004600-212005000	Enhancers	Fetal Brain Male	brain
10	chr1:212004600-212005200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:212004600-212005200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr1:212004600-212005200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:212004600-212005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:212004600-212005200	Enhancers	Liver	Liver
15	chr1:212004600-212005200	Enhancers	Fetal Intestine Small	intestine
16	chr1:212004600-212005200	Enhancers	Fetal Thymus	thymus
17	chr1:212004600-212005600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:212004600-212005800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:212004600-212005800	Weak transcription	K562	blood
20	chr1:212004600-212006000	Weak transcription	Stomach Mucosa	stomach
21	chr1:212004600-212007200	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:212004600-212007200	Enhancers	Fetal Intestine Large	intestine
23	chr1:212004600-212008000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:212004600-212008000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:212004600-212008200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:212004600-212008200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:212004600-212008200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:212004600-212008600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:212004800-212005000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:212004800-212005000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:212004800-212005000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:212004800-212005000	Enhancers	Brain Anterior Caudate	brain
33	chr1:212004800-212005200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:212004800-212005200	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:212004800-212005200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr1:212004800-212005200	Weak transcription	Small Intestine	intestine
37	chr1:212004800-212005200	Enhancers	Thymus	Thymus
38	chr1:212004800-212005400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:212004800-212005800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:212004800-212006200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:212004800-212006400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:212004800-212006400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:212004800-212006400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:212004800-212006600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:212004800-212007200	Enhancers	Primary B cells from cord blood	blood
46	chr1:212004800-212007800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:212004800-212008000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:212004800-212008000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:212004800-212008200	Enhancers	Primary T cells from cord blood	blood
50	chr1:212004800-212008600	Enhancers	Primary T helper cells PMA-I stimulated	--

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