Variant report

Variant	rs828859
Chromosome Location	chr2:74412253-74412254
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74410706..74412513-chr2:74413665..74416302,2	K562	blood:
2	chr2:74405414..74407856-chr2:74411125..74415681,6	K562	blood:
3	chr2:74377647..74380367-chr2:74411655..74413367,2	K562	blood:

Variant related genes	Relation type
ENSG00000114978	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1095968	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12196	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1723281	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1723285	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108164	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4853016	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546893	0.85[EUR][1000 genomes]
rs702462	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7340453	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828853	0.81[EUR][1000 genomes]
rs828855	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828856	0.86[EUR][1000 genomes]
rs828857	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828858	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74406600-74412400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:74406600-74412600	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:74406600-74414800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:74407200-74415200	Weak transcription	Placenta	Placenta
5	chr2:74409200-74414400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:74409200-74414600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:74409200-74414600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:74409200-74414600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:74409200-74414600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:74409200-74414600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:74409200-74419800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:74409600-74412600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:74409600-74413200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:74409600-74413400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:74409600-74414600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:74409600-74415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:74409800-74412400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:74409800-74413200	Weak transcription	Fetal Thymus	thymus
19	chr2:74411000-74415000	Enhancers	Primary B cells from cord blood	blood
20	chr2:74411200-74412400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:74411600-74412600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:74411600-74412600	Weak transcription	K562	blood
23	chr2:74411600-74414800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:74412000-74412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:74412200-74412600	Weak transcription	GM12878-XiMat	blood

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