Variant report

Variant	rs527494439
Chromosome Location	chr1:224074726-224074727
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224061505..224063787-chr1:224074137..224075680,2	K562	blood:
2	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv522556	chr1:224061898-224075483	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv17562	chr1:224074599-224112449	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:224073000-224077400	Enhancers	Liver	Liver
5	chr1:224073400-224075000	Enhancers	HepG2	liver
6	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
7	chr1:224074000-224075400	Enhancers	Hela-S3	cervix
8	chr1:224074200-224075200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:224074200-224075400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:224074200-224075400	Enhancers	A549	lung
11	chr1:224074200-224076200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:224074400-224074800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:224074400-224075000	Enhancers	NHEK	skin
14	chr1:224074400-224075200	Enhancers	HSMMtube	muscle
15	chr1:224074400-224075400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224074400-224075400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:224074400-224075400	Enhancers	NHLF	lung
18	chr1:224074400-224075600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:224074400-224076200	Enhancers	Right Atrium	heart
20	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:224074600-224075400	Enhancers	NH-A	brain
22	chr1:224074600-224075800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:224074600-224076000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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