Variant report

Variant	rs527299733
Chromosome Location	chr1:224076240-224076241
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1817834	chr1:224052449-224095114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803377	chr1:224052449-224108920	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv17562	chr1:224074599-224112449	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873214	chr1:224075483-224166332	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv873215	chr1:224075483-224204433	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv873216	chr1:224075483-224230307	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1802502	chr1:224076065-224184733	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv945315	chr1:224076219-224085337	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv945314	chr1:224076219-224128699	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:224073000-224077400	Enhancers	Liver	Liver
3	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224075400-224076400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:224075400-224076400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:224075400-224076400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr1:224075400-224076400	Flanking Active TSS	A549	lung
8	chr1:224075400-224076400	Flanking Active TSS	Hela-S3	cervix
9	chr1:224075400-224076600	Enhancers	NHEK	skin
10	chr1:224075400-224076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:224075600-224076400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:224075600-224076400	Flanking Active TSS	Osteobl	bone
13	chr1:224075800-224076400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:224075800-224076600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:224075800-224076600	Enhancers	NH-A	brain
16	chr1:224075800-224077000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:224076000-224076400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:224076000-224076400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:224076000-224076400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:224076000-224076400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:224076000-224076400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:224076000-224076400	Enhancers	HMEC	breast
23	chr1:224076000-224076400	Flanking Active TSS	HSMMtube	muscle
24	chr1:224076000-224076400	Flanking Active TSS	NHDF-Ad	bronchial
25	chr1:224076000-224076400	Flanking Active TSS	NHLF	lung
26	chr1:224076000-224076600	Enhancers	HSMM	muscle
27	chr1:224076000-224076600	Enhancers	HUVEC	blood vessel
28	chr1:224076200-224076400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:224076200-224076400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:224076200-224076400	Enhancers	Fetal Heart	heart
31	chr1:224076200-224076400	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:224076200-224076600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:224076200-224076600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:224076200-224076600	Enhancers	Fetal Kidney	kidney
35	chr1:224076200-224077400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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