Variant report

Variant	rs570745353
Chromosome Location	chr2:111574810-111574811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111573421..111575587-chr2:111577412..111579449,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3435964	chr2:111574381-111578579	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562000-111576400	Weak transcription	Right Atrium	heart
2	chr2:111562800-111604000	Weak transcription	Lung	lung
3	chr2:111569200-111577400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:111569200-111579600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:111569400-111585000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:111569800-111580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:111569800-111580800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:111569800-111590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:111570200-111575000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:111570200-111580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:111570400-111575000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:111571000-111577600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:111571000-111577800	Weak transcription	Thymus	Thymus
14	chr2:111573800-111575000	Enhancers	Dnd41	blood
15	chr2:111574000-111575000	Enhancers	Fetal Thymus	thymus
16	chr2:111574200-111577200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:111574400-111575000	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:111574400-111575000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr2:111574400-111575200	Enhancers	Psoas Muscle	Psoas
20	chr2:111574600-111576400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:111574600-111577000	Weak transcription	Spleen	Spleen
22	chr2:111574800-111575600	Enhancers	Skeletal Muscle Male	skeletal muscle

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