Variant report

Variant	rs17040619
Chromosome Location	chr4:110562999-110563000
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110555712..110559152-chr4:110560403..110563271,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17040755	1.00[AMR][1000 genomes]
rs5030544	1.00[AMR][1000 genomes]
rs5030579	1.00[AMR][1000 genomes]
rs5030585	1.00[AMR][1000 genomes]
rs7441380	1.00[AMR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 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	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:110546200-110566400	Weak transcription	Fetal Thymus	thymus
3	chr4:110546600-110580600	Weak transcription	Thymus	Thymus
4	chr4:110550600-110569200	Weak transcription	GM12878-XiMat	blood
5	chr4:110553000-110565600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:110553200-110565200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:110553200-110566200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:110553200-110566800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:110556800-110563000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:110559600-110566600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:110560400-110564400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:110560600-110564000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:110561200-110566800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:110561400-110566800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:110561600-110563800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr4:110561800-110566200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:110562000-110564000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:110562200-110567200	Weak transcription	Stomach Mucosa	stomach
19	chr4:110562400-110569000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:110562600-110563600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:110562800-110563200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:110562800-110563200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:110562800-110563400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:110562800-110563600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:110562800-110569400	Enhancers	Primary T cells from cord blood	blood

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