Variant report

Variant	rs56935320
Chromosome Location	chr4:48114702-48114703
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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007201	1.00[EUR][1000 genomes]
rs12108541	1.00[EUR][1000 genomes]
rs13137752	1.00[EUR][1000 genomes]
rs1396054	1.00[EUR][1000 genomes]
rs1507916	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16861040	1.00[EUR][1000 genomes]
rs16861070	1.00[EUR][1000 genomes]
rs16861073	1.00[EUR][1000 genomes]
rs16861090	1.00[EUR][1000 genomes]
rs2352589	1.00[EUR][1000 genomes]
rs34518985	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3852106	1.00[EUR][1000 genomes]
rs56143759	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56146268	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56285596	1.00[EUR][1000 genomes]
rs57619089	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61599433	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6814039	1.00[EUR][1000 genomes]
rs6832750	1.00[EUR][1000 genomes]
rs6858664	1.00[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:48109600-48114800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:48109800-48115000	Strong transcription	Primary T cells from cord blood	blood
5	chr4:48111400-48114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:48111600-48114800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:48111800-48118600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:48113000-48115200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:48113200-48116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:48113600-48121800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr4:48114000-48115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr4:48114000-48116800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:48114200-48114800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:48114200-48115000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:48114200-48116000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:48114200-48116400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:48114400-48115200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr4:48114400-48116000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr4:48114400-48116000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:48114400-48116800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:48114400-48116800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:48114400-48118200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:48114400-48118600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:48114400-48121600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:48114400-48123000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:48114600-48114800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:48114600-48114800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:48114600-48116000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:48114600-48118400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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