Variant report

Variant	rs2940329
Chromosome Location	chr4:48122550-48122551
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	chr4:48116908..48119075-chr4:48120990..48123464,3	K562	blood:
2	chr4:48121739..48123501-chr4:48126071..48127740,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1396049	0.83[AMR][1000 genomes]
rs16860943	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16861067	1.00[AMR][1000 genomes]
rs1979972	1.00[AMR][1000 genomes]
rs2089508	1.00[AMR][1000 genomes]
rs2135957	0.83[AMR][1000 genomes]
rs2251240	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2352590	0.83[AMR][1000 genomes]
rs2352591	0.83[AMR][1000 genomes]
rs2456926	0.83[AMR][1000 genomes]
rs2464500	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2464501	0.83[AMR][1000 genomes]
rs2464506	0.83[AMR][1000 genomes]
rs2661526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2661527	1.00[AMR][1000 genomes]
rs2661531	1.00[AMR][1000 genomes]
rs2661534	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704397	1.00[AMR][1000 genomes]
rs2704398	1.00[AMR][1000 genomes]
rs2704427	1.00[AMR][1000 genomes]
rs2704428	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704432	1.00[AMR][1000 genomes]
rs34386002	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3857073	0.83[AMR][1000 genomes]
rs4695333	0.83[AMR][1000 genomes]
rs60470389	1.00[AMR][1000 genomes]
rs6858033	0.83[AMR][1000 genomes]
rs7692882	1.00[AMR][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:21 , 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	chr4:48114400-48123000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:48116600-48124000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:48118400-48129600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr4:48118600-48128200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:48118800-48127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:48118800-48128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:48118800-48129000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:48120600-48126200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:48121600-48124600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:48121600-48129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:48121800-48128800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:48122000-48122600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:48122000-48122800	Weak transcription	Primary T cells from cord blood	blood
15	chr4:48122000-48122800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:48122000-48122800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:48122000-48122800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:48122000-48122800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:48122000-48124200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:48122200-48122600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:48122200-48123000	Enhancers	Primary T cells fromperipheralblood	blood

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