Variant report

Variant	rs9997940
Chromosome Location	chr4:110558395-110558396
allele	A/C
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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13435023	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5030572	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:110546000-110559600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:110546200-110566400	Weak transcription	Fetal Thymus	thymus
4	chr4:110546600-110580600	Weak transcription	Thymus	Thymus
5	chr4:110550600-110569200	Weak transcription	GM12878-XiMat	blood
6	chr4:110553000-110565600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:110553200-110559800	Weak transcription	Right Atrium	heart
8	chr4:110553200-110560000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:110553200-110561600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:110553200-110561800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:110553200-110565200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:110553200-110566200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:110553200-110566800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:110553400-110559600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:110553600-110560400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:110553800-110560600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:110553800-110562000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:110554000-110558400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:110554200-110558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:110554200-110559600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:110556800-110563000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:110557200-110559800	Strong transcription	Primary T cells from cord blood	blood

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