Variant report

Variant	rs2847263
Chromosome Location	chr18:12775263-12775264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12772443..12775307-chr18:12781731..12784605,2	MCF-7	breast:
2	chr18:12774117..12776643-chr18:12883699..12885836,3	K562	blood:
3	chr18:12767228..12769677-chr18:12772403..12775378,2	K562	blood:
4	chr18:12760248..12761815-chr18:12774544..12776783,2	K562	blood:
5	chr18:12765202..12767798-chr18:12773652..12775696,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN2-1	chr18:12774650-12775922	ENSG00000260302.1
2	lnc-PTPN2-2	chr18:12774649-12775922	NONHSAT058393

No data

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction
ENSG00000201466	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	1.00[EUR][1000 genomes]
rs16939851	1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs2542173	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	1.00[EUR][1000 genomes]
rs61320647	1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8087452	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9951546	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1062149	chr18:12728115-12783898	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
9	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12767000-12776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:12767400-12815800	Weak transcription	Gastric	stomach
3	chr18:12773400-12776200	Active TSS	Thymus	Thymus
4	chr18:12774200-12776800	Active TSS	Dnd41	blood
5	chr18:12774800-12776200	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr18:12774800-12776200	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr18:12774800-12776200	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr18:12774800-12776200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr18:12774800-12777600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr18:12775000-12776200	Active TSS	Primary T cells from cord blood	blood
11	chr18:12775000-12776200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:12775000-12776200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr18:12775000-12776200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr18:12775000-12776200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr18:12775000-12776200	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr18:12775000-12778000	ZNF genes & repeats	Fetal Thymus	thymus
17	chr18:12775200-12775400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:12775200-12776000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr18:12775200-12776000	Active TSS	HepG2	liver
20	chr18:12775200-12776200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:12775200-12776400	Active TSS	Primary T cells fromperipheralblood	blood

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