Variant report

Variant	rs72760372
Chromosome Location	chr1:224825575-224825576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12023355	1.00[AFR][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:48 , 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	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:224823400-224827000	Enhancers	HSMM	muscle
6	chr1:224823400-224827200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:224824400-224825600	Weak transcription	NHDF-Ad	bronchial
8	chr1:224824400-224826400	Enhancers	Dnd41	blood
9	chr1:224824400-224827800	Enhancers	NH-A	brain
10	chr1:224824600-224826400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:224824600-224826400	Enhancers	Fetal Brain Male	brain
12	chr1:224824800-224825800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:224824800-224826600	Enhancers	HSMMtube	muscle
14	chr1:224825000-224825600	Enhancers	Fetal Brain Female	brain
15	chr1:224825000-224826000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:224825000-224826000	Enhancers	Fetal Muscle Leg	muscle
17	chr1:224825000-224826000	Enhancers	Osteobl	bone
18	chr1:224825000-224826400	Enhancers	Thymus	Thymus
19	chr1:224825200-224825600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:224825200-224825600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:224825200-224825600	Enhancers	Fetal Stomach	stomach
22	chr1:224825200-224825800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:224825200-224825800	Enhancers	Fetal Lung	lung
24	chr1:224825200-224825800	Enhancers	HMEC	breast
25	chr1:224825200-224826000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:224825200-224826000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:224825200-224826000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:224825200-224826000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:224825200-224826000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:224825200-224826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:224825200-224826000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:224825200-224826000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:224825200-224826000	Enhancers	Small Intestine	intestine
34	chr1:224825200-224826200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr1:224825200-224826200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:224825200-224826200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:224825200-224826400	Enhancers	Primary T cells from cord blood	blood
38	chr1:224825200-224826400	Enhancers	Fetal Thymus	thymus
39	chr1:224825200-224828600	Enhancers	Pancreas	Pancrea
40	chr1:224825200-224829400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:224825400-224825600	Enhancers	NHLF	lung
42	chr1:224825400-224825800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:224825400-224825800	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:224825400-224826000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:224825400-224826000	Enhancers	Psoas Muscle	Psoas
46	chr1:224825400-224826200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:224825400-224826400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:224825400-224826400	Enhancers	Gastric	stomach

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