Variant report

Variant	rs2089507
Chromosome Location	chr4:48116886-48116887
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	chr4:48107035..48109587-chr4:48114590..48117554,2	K562	blood:

Variant related genes	Relation type
ENSG00000200269	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1472865	0.82[EUR][1000 genomes]
rs1532967	0.82[EUR][1000 genomes]
rs2262771	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2940330	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3749504	0.82[EUR][1000 genomes]
rs3792623	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694884	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6822209	0.82[EUR][1000 genomes]
rs6833403	0.82[EUR][1000 genomes]
rs6854382	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:48111800-48118600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:48113600-48121800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr4:48114400-48118200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:48114400-48118600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:48114400-48121600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:48114400-48123000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:48114600-48118400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:48115000-48117000	Genic enhancers	Primary T cells from cord blood	blood
10	chr4:48115200-48117000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:48116400-48117200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:48116400-48118400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:48116400-48118600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:48116600-48118400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:48116600-48118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:48116600-48124000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:48116800-48117200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:48116800-48117400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:48116800-48118000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:48116800-48118000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:48116800-48118200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:48116800-48118400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:48116800-48118400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:48116800-48119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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