Variant report

Variant	rs16866488
Chromosome Location	chr2:179610477-179610478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179602765..179606051-chr2:179607318..179610882,3	K562	blood:
2	chr2:179609931..179612126-chr2:179618103..179619984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237298	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10221557	1.00[AMR][1000 genomes]
rs10803917	1.00[AMR][1000 genomes]
rs10803918	1.00[AMR][1000 genomes]
rs13408466	1.00[AMR][1000 genomes]
rs13422986	1.00[AMR][1000 genomes]
rs13427087	1.00[AMR][1000 genomes]
rs16866469	1.00[AMR][1000 genomes]
rs16866476	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16866477	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16866489	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16866490	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16866539	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1812638	1.00[AMR][1000 genomes]
rs2366910	1.00[AMR][1000 genomes]
rs4894036	1.00[AMR][1000 genomes]
rs4894038	1.00[AMR][1000 genomes]
rs4894039	1.00[AMR][1000 genomes]
rs4894043	1.00[AMR][1000 genomes]
rs56821960	1.00[AMR][1000 genomes]
rs57389274	1.00[AMR][1000 genomes]
rs6433731	1.00[AMR][1000 genomes]
rs6433732	1.00[AMR][1000 genomes]
rs6738484	1.00[AMR][1000 genomes]
rs72646882	1.00[AMR][1000 genomes]
rs72648903	1.00[AMR][1000 genomes]
rs922985	1.00[AMR][1000 genomes]
rs922986	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179493000-179620800	Weak transcription	HSMM	muscle
3	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:179584200-179616200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:179585200-179615800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:179588200-179622800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:179598000-179614200	Weak transcription	Primary B cells from cord blood	blood
10	chr2:179598600-179622200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:179600800-179616400	Weak transcription	Psoas Muscle	Psoas
12	chr2:179600800-179621200	Weak transcription	Pancreas	Pancrea
13	chr2:179603200-179614800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:179603400-179612400	Weak transcription	Primary T cells from cord blood	blood
15	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:179606200-179614600	Weak transcription	Right Ventricle	heart
17	chr2:179609600-179615200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:179609800-179613000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:179610200-179612800	Strong transcription	Left Ventricle	heart
20	chr2:179610200-179613000	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:179610200-179616600	Genic enhancers	Fetal Heart	heart
22	chr2:179610400-179612800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:179610400-179621000	Strong transcription	HSMMtube	muscle

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