Variant report

Variant	rs58719148
Chromosome Location	chr2:111577324-111577325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111575511..111578409-chr2:111879330..111881179,2	K562	blood:
2	chr2:111575287..111578070-chr2:111583930..111586052,2	K562	blood:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17041561	0.82[AFR][1000 genomes]
rs3817265	0.84[AFR][1000 genomes]
rs56169320	0.84[AFR][1000 genomes]
rs61376946	0.84[AFR][1000 genomes]
rs72832821	0.84[AFR][1000 genomes]
rs72832842	0.84[AFR][1000 genomes]
rs73956471	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562800-111604000	Weak transcription	Lung	lung
2	chr2:111569200-111577400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:111569200-111579600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:111569400-111585000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:111569800-111580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:111569800-111580800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:111569800-111590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:111570200-111580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:111571000-111577600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:111571000-111577800	Weak transcription	Thymus	Thymus
11	chr2:111575000-111579000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:111576600-111577800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:111576600-111578000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:111576600-111578000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:111576600-111579000	Enhancers	Fetal Thymus	thymus
16	chr2:111576800-111577800	Enhancers	Primary T cells from cord blood	blood
17	chr2:111576800-111577800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:111576800-111578000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:111576800-111578200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:111576800-111578800	Enhancers	Dnd41	blood
21	chr2:111576800-111579800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:111577000-111577800	Enhancers	Spleen	Spleen
23	chr2:111577000-111578400	Enhancers	Primary B cells from cord blood	blood
24	chr2:111577200-111579200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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