Variant report

Variant	rs60288309
Chromosome Location	chr2:30651881-30651882
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	chr2:30647371..30649841-chr2:30651246..30653133,2	K562	blood:
2	chr2:30453036..30455279-chr2:30649671..30652674,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17009492	1.00[AMR][1000 genomes]
rs17009527	1.00[AMR][1000 genomes]
rs17009547	1.00[AMR][1000 genomes]
rs17009671	1.00[AMR][1000 genomes]
rs2120343	1.00[AMR][1000 genomes]
rs57847208	0.94[AFR][1000 genomes]
rs61043924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591314	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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 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	chr2:30645000-30652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr2:30645600-30656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:30645800-30656600	Weak transcription	Fetal Lung	lung
4	chr2:30646000-30653400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:30646400-30652400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:30646400-30656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
8	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
9	chr2:30648600-30655400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:30648600-30655400	Weak transcription	NHDF-Ad	bronchial
11	chr2:30648600-30655400	Weak transcription	Osteobl	bone
12	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:30649000-30652200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:30650600-30652800	Enhancers	Primary T cells from cord blood	blood
15	chr2:30650800-30652200	Enhancers	Fetal Thymus	thymus
16	chr2:30651000-30652000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr2:30651200-30652000	Weak transcription	Gastric	stomach
18	chr2:30651200-30652000	Enhancers	K562	blood
19	chr2:30651600-30652000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:30651600-30652400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:30651600-30656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:30651600-30656600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:30651800-30652000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:30651800-30652200	Weak transcription	Fetal Heart	heart
25	chr2:30651800-30652400	Enhancers	Primary T cells fromperipheralblood	blood

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