Variant report

Variant	rs2811712
Chromosome Location	chr9:21998035-21998036
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	chr9:21993265..21995493-chr9:21997004..21999736,2	MCF-7	breast:
2	chr9:21995575..21999159-chr9:22007136..22010675,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266446	Chromatin interaction
ENSG00000147883	Chromatin interaction
ENSG00000147889	Chromatin interaction
ENSG00000240498	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10757262	0.89[CEU][hapmap]
rs10757263	0.83[AFR][1000 genomes]
rs10757264	0.80[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10811640	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10811643	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10811644	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10965212	0.88[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11515	0.89[CEU][hapmap]
rs1333034	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs1333035	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1591136	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs17694493	1.00[MEX][hapmap]
rs2069422	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs2069426	0.82[MEX][hapmap];0.86[EUR][1000 genomes]
rs2106119	0.85[LWK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs2106120	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2285327	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2811708	0.82[CHD][hapmap];0.83[JPT][hapmap]
rs2811709	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs3218002	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218010	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3218018	1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs3731201	0.89[CEU][hapmap]
rs3731211	0.81[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs3808845	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3808846	0.84[ASN][1000 genomes]
rs490005	0.86[AFR][1000 genomes]
rs496892	0.88[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4977753	0.82[AFR][1000 genomes]
rs598664	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs643319	0.84[LWK][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs662463	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs7035484	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7036656	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7039304	0.83[ASN][1000 genomes]
rs7044859	0.88[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7049105	0.88[LWK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs974336	0.81[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	esv3492902	chr9:21971026-22006145	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv3492901	chr9:21971095-22006263	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2811712	CDKN2B	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996200-22004000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:21996200-22004000	Weak transcription	Adipose Nuclei	Adipose
4	chr9:21996200-22005200	Weak transcription	Lung	lung
5	chr9:21996200-22005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:21996400-21999000	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr9:21996400-22003000	Weak transcription	HSMM	muscle
8	chr9:21996400-22004200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:21996400-22004400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:21996400-22005000	Weak transcription	NHEK	skin
11	chr9:21996400-22005200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:21996400-22005200	Weak transcription	NHDF-Ad	bronchial
13	chr9:21996400-22005200	Weak transcription	Osteobl	bone
14	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:21996600-22003000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:21996600-22003800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:21996800-22005000	Weak transcription	NHLF	lung
18	chr9:21996800-22005200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:21997000-21998400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr9:21997000-21998400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr9:21997000-21998600	Enhancers	NH-A	brain
22	chr9:21997000-22003800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:21997200-21998600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:21997200-21998600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr9:21997200-21998600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:21997200-22005200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:21997800-21998200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr9:21997800-21998200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:21997800-21998200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:21998000-21998400	Weak transcription	HMEC	breast
31	chr9:21998000-21998400	Weak transcription	HSMMtube	muscle
32	chr9:21998000-21998600	Genic enhancers	Hela-S3	cervix
33	chr9:21998000-21998800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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