Variant report

Variant	rs9993884
Chromosome Location	chr4:110560495-110560496
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	chr4:110555712..110559152-chr4:110560403..110563271,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10017480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213562	0.82[MEX][hapmap]
rs1029452	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1029453	0.94[EUR][1000 genomes]
rs10488884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331696	0.89[EUR][1000 genomes]
rs13101299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103963	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs13118855	1.00[ASN][1000 genomes]
rs13133957	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144711	0.94[EUR][1000 genomes]
rs13145412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13353725	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346841	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs28369312	0.93[EUR][1000 genomes]
rs28462209	1.00[EUR][1000 genomes]
rs3181345	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs34682042	0.97[EUR][1000 genomes]
rs5030552	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs56077978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60422601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61236558	0.91[EUR][1000 genomes]
rs6830801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858600	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669692	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687245	0.82[MEX][hapmap]
rs9999288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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:20 , 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	chr4:110553200-110561600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:110553200-110561800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:110553200-110565200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:110553200-110566200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:110553200-110566800	Weak transcription	Primary B cells from cord blood	blood
11	chr4:110553800-110560600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:110553800-110562000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:110556800-110563000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:110559600-110562000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:110559600-110566600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:110559800-110562800	Weak transcription	Primary T cells from cord blood	blood
17	chr4:110560000-110560800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:110560400-110560600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr4:110560400-110561200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:110560400-110564400	Weak transcription	Primary T cells fromperipheralblood	blood

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