Variant report

Variant	rs72746571
Chromosome Location	chr1:212004735-212004736
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	MAZ	chr1:212002157-212004773	IMR90	lung:	n/a	chr1:212003407-212003416
3	SMC3	chr1:212002335-212004768	SK-N-SH	brain:	n/a	n/a
4	SPI1	chr1:212004592-212005564	GM12878	blood:	n/a	chr1:212005157-212005166 chr1:212005153-212005162 chr1:212005155-212005168
5	REST	chr1:212002635-212004770	H1-neurons	neurons:	n/a	chr1:212002784-212002804 chr1:212002784-212002804 chr1:212003437-212003450 chr1:212004281-212004301 chr1:212004156-212004169 chr1:212004276-212004289

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTL-2	chr1:212004690-212004754	ENSG00000229258.1
2	lnc-DTL-2	chr1:212004689-212004754	ENSG00000229258.1
3	lnc-DTL-2	chr1:212004598-212004754	ENSG00000229258.1
4	lnc-DTL-2	chr1:212004552-212004754	NONHSAT009333
5	lnc-DTL-2	chr1:212004587-212004754	ENSG00000229258.1

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

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7553567	0.85[AMR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212001200-212004800	Active TSS	Brain Angular Gyrus	brain
2	chr1:212002000-212004800	Active TSS	Right Atrium	heart
3	chr1:212002400-212004800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:212002400-212004800	Active TSS	HSMM	muscle
5	chr1:212002600-212004800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:212002600-212004800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:212002600-212004800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:212002600-212004800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:212002600-212004800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:212002600-212004800	Active TSS	Brain Anterior Caudate	brain
11	chr1:212002600-212004800	Active TSS	Colon Smooth Muscle	Colon
12	chr1:212002600-212004800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:212002600-212004800	Active TSS	Fetal Brain Female	brain
14	chr1:212003000-212004800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:212003000-212004800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:212003000-212004800	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:212003200-212004800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:212003200-212004800	Active TSS	Fetal Stomach	stomach
19	chr1:212003200-212004800	Active TSS	Rectal Smooth Muscle	rectum
20	chr1:212003200-212004800	Active TSS	NHDF-Ad	bronchial
21	chr1:212003200-212005000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:212003200-212005000	Active TSS	NHEK	skin
23	chr1:212003400-212004800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:212003400-212004800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:212003400-212004800	Active TSS	Hela-S3	cervix
26	chr1:212003400-212004800	Active TSS	Osteobl	bone
27	chr1:212003600-212004800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:212004000-212004800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:212004000-212004800	Active TSS	Brain Germinal Matrix	brain
30	chr1:212004200-212004800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr1:212004200-212004800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:212004200-212004800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:212004200-212004800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:212004200-212004800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:212004200-212004800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:212004200-212004800	Flanking Active TSS	Thymus	Thymus
37	chr1:212004200-212005000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr1:212004200-212005000	Flanking Active TSS	Dnd41	blood
39	chr1:212004200-212005400	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:212004400-212004800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr1:212004400-212004800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:212004400-212004800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:212004400-212004800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:212004400-212005200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:212004600-212004800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:212004600-212004800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:212004600-212004800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:212004600-212004800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:212004600-212004800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:212004600-212004800	Weak transcription	Brain Cingulate Gyrus	brain

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