Variant report

Variant	rs2518719
Chromosome Location	chr9:21970427-21970428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDKN2B-3	chr9:21970236-21970466	NONHSAT130408

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13297747	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2188127	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2811711	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs3731198	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3731204	1.00[CEU][hapmap]
rs3731217	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3731222	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs495490	0.86[CEU][hapmap]
rs575427	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21965400-21972000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:21966200-21971000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:21966200-21972000	Strong transcription	Dnd41	blood
4	chr9:21967200-21971200	ZNF genes & repeats	HMEC	breast
5	chr9:21967800-21970800	Strong transcription	HSMMtube	muscle
6	chr9:21968200-21971400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr9:21968400-21971200	ZNF genes & repeats	HSMM	muscle
8	chr9:21968600-21970800	ZNF genes & repeats	NHEK	skin
9	chr9:21968800-21970600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:21968800-21971000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr9:21968800-21971200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:21969000-21970800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:21969000-21971600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr9:21969800-21970600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr9:21970000-21971000	ZNF genes & repeats	GM12878-XiMat	blood
16	chr9:21970000-21971200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:21970200-21970600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:21970200-21970600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:21970200-21970800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr9:21970200-21970800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr9:21970200-21970800	ZNF genes & repeats	Hela-S3	cervix
22	chr9:21970200-21971400	ZNF genes & repeats	Lung	lung
23	chr9:21970200-21971400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr9:21970400-21970800	Enhancers	Right Ventricle	heart
25	chr9:21970400-21971000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:21970400-21971000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:21970400-21971000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr9:21970400-21971400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr9:21970400-21971400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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