Variant report

Variant	rs12288290
Chromosome Location	chr11:63702327-63702328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:63702200-63702350	A549	lung:	n/a	n/a
2	TEAD4	chr11:63702021-63702367	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr11:63702006-63702368	T-47D	breast:	n/a	chr11:63702066-63702082 chr11:63702069-63702078
4	RAD21	chr11:63701982-63702327	H1-hESC	embryonic stem cell:	n/a	chr11:63702120-63702139
5	CTCF	chr11:63702019-63702390	SK-N-SH	brain:	n/a	chr11:63702123-63702139 chr11:63702122-63702140
6	RAD21	chr11:63701927-63702395	H1-hESC	embryonic stem cell:	n/a	chr11:63702120-63702139
7	HDAC2	chr11:63701964-63702435	MCF-7	breast:	n/a	n/a
8	TEAD4	chr11:63702040-63702378	H1-hESC	embryonic stem cell:	n/a	n/a
9	GATA3	chr11:63701959-63702342	T-47D	breast:	n/a	chr11:63702066-63702082 chr11:63702069-63702078
10	CTCF	chr11:63702020-63702418	HCT-116	colon:	n/a	chr11:63702123-63702139 chr11:63702122-63702140
11	SMC3	chr11:63701951-63702401	SK-N-SH	brain:	n/a	chr11:63702124-63702138
12	RAD21	chr11:63702016-63702329	HepG2	liver:	n/a	chr11:63702120-63702139
13	FOXA1	chr11:63702025-63702339	T-47D	breast:	n/a	n/a
14	TEAD4	chr11:63702009-63702415	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr11:63702005-63702410	MCF-7	breast:	n/a	chr11:63702123-63702139 chr11:63702122-63702140
16	CTCF	chr11:63701966-63702335	MCF-7	breast:	n/a	chr11:63702123-63702139 chr11:63702122-63702140
17	SP1	chr11:63701960-63702371	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr11:63701901-63702402	ECC-1	luminal epithelium:	n/a	chr11:63702120-63702139
19	CTCF	chr11:63701789-63702416	A549	lung:	n/a	chr11:63702123-63702139 chr11:63702122-63702140
20	EP300	chr11:63702030-63702367	T-47D	breast:	n/a	n/a
21	RAD21	chr11:63702025-63702328	MCF-7	breast:	n/a	chr11:63702120-63702139
22	RAD21	chr11:63702020-63702486	SK-N-SH	brain:	n/a	chr11:63702120-63702139
23	RAD21	chr11:63701983-63702424	HCT-116	colon:	n/a	chr11:63702120-63702139
24	EP300	chr11:63702013-63702343	T-47D	breast:	n/a	n/a
25	RAD21	chr11:63701980-63702425	MCF-7	breast:	n/a	chr11:63702120-63702139

No.	Distal block	Cell Line	Cell type
1	chr11:63702093..63703602-chr11:63705720..63707224,2	MCF-7	breast:
2	chr11:63687862..63689839-chr11:63702053..63703674,2	MCF-7	breast:
3	chr11:63702010..63703638-chr11:63704056..63706537,2	K562	blood:

Variant related genes	Relation type
NAA40	TF binding region
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10897460	1.00[EUR][1000 genomes]
rs11231632	1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs11231665	1.00[AMR][1000 genomes]
rs11231673	1.00[AMR][1000 genomes]
rs11494059	0.83[AMR][1000 genomes]
rs12099085	1.00[EUR][1000 genomes]
rs12271959	1.00[EUR][1000 genomes]
rs12277386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285283	1.00[AMR][1000 genomes]
rs12291042	1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs17403349	1.00[AMR][1000 genomes]
rs320110	1.00[EUR][1000 genomes]
rs34689425	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56217591	1.00[AMR][1000 genomes]
rs57219930	1.00[EUR][1000 genomes]
rs57864399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57868637	1.00[AMR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	1.00[EUR][1000 genomes]
rs59502039	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59642000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60107756	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61475860	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61653882	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110433	1.00[EUR][1000 genomes]
rs7929867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938631	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948681	1.00[EUR][1000 genomes]
rs7952003	1.00[EUR][1000 genomes]
rs9326430	1.00[AMR][1000 genomes]
rs9630214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
9	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63697000-63705600	Weak transcription	Right Atrium	heart
2	chr11:63698800-63705600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63698800-63705600	Weak transcription	Esophagus	oesophagus
4	chr11:63699000-63705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:63699600-63705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63699600-63705600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:63699800-63702800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:63699800-63705200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
10	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:63700000-63705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:63700600-63702800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:63700800-63702400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:63700800-63702400	Enhancers	Osteobl	bone
15	chr11:63701000-63703000	Enhancers	Placenta	Placenta
16	chr11:63701200-63703200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:63701200-63705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:63701400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:63701400-63705600	Weak transcription	Left Ventricle	heart
20	chr11:63702200-63702400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:63702200-63703200	Enhancers	HepG2	liver
22	chr11:63702200-63705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:63702200-63705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:63702200-63705600	Weak transcription	Adipose Nuclei	Adipose

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