Variant report

Variant	rs138485761
Chromosome Location	chr22:30269040-30269041
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	chr22:30208644..30211473-chr22:30268127..30270343,2	MCF-7	breast:
2	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3438106	chr22:30268924-30269449	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30265800-30269200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:30265800-30270200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:30266800-30269400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr22:30266800-30270000	Enhancers	Psoas Muscle	Psoas
5	chr22:30267600-30269200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:30267600-30269400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr22:30267600-30269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:30267600-30269600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr22:30267600-30270200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr22:30267800-30269400	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:30267800-30270000	Enhancers	Primary B cells from cord blood	blood
12	chr22:30268000-30269200	Weak transcription	NHEK	skin
13	chr22:30268000-30269600	Enhancers	Pancreas	Pancrea
14	chr22:30268200-30269600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr22:30268200-30270200	Enhancers	Spleen	Spleen
16	chr22:30268400-30269400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr22:30268600-30273800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:30268800-30269400	Weak transcription	Right Atrium	heart
19	chr22:30268800-30270000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:30268800-30270000	Weak transcription	GM12878-XiMat	blood
21	chr22:30268800-30277800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:30268800-30279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:30269000-30270200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:30269000-30278800	Weak transcription	Adipose Nuclei	Adipose

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