Variant report

Variant	rs11149811
Chromosome Location	chr16:75300708-75300709
allele	C/G
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	MTA3	chr16:75299898-75300750	GM12878	blood:	n/a	n/a
2	MAX	chr16:75299725-75300735	MCF-7	breast:	n/a	chr16:75300514-75300525
3	SMARCB1	chr16:75298541-75300871	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:75298559-75300896	HepG2	liver:	n/a	n/a
5	MAX	chr16:75299638-75300807	A549	lung:	n/a	chr16:75300514-75300525
6	MAX	chr16:75299727-75300736	A549	lung:	n/a	chr16:75300514-75300525
7	ZBTB7A	chr16:75298719-75300857	ECC-1	luminal epithelium:	n/a	n/a
8	MAZ	chr16:75297263-75301010	IMR90	lung:	n/a	chr16:75300514-75300525
9	SIN3AK20	chr16:75298576-75300848	MCF-7	breast:	n/a	n/a
10	POLR2A	chr16:75300686-75300897	K562	blood:	n/a	n/a
11	ZBTB7A	chr16:75298913-75300952	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75297370..75301171-chr16:75316900..75323378,8	MCF-7	breast:
2	chr16:75298469..75301995-chr16:75337781..75340827,6	MCF-7	breast:
3	chr1:149856624..149859065-chr16:75299349..75301400,2	MCF-7	breast:
4	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
5	chr16:75299703..75301536-chr16:75319943..75321807,2	K562	blood:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000184260	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000252101	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1035540	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1107593	0.84[CEU][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11641896	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12918452	0.81[EUR][1000 genomes]
rs12924999	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1808427	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs1862738	0.94[EUR][1000 genomes]
rs2870471	0.87[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870472	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3169330	0.86[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs4888361	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888362	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4888363	0.87[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4888364	0.97[EUR][1000 genomes]
rs4888365	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6564239	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs6564241	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564243	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195938	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7202566	0.90[EUR][1000 genomes]
rs8048371	0.97[EUR][1000 genomes]
rs8048956	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs8057145	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8059190	0.91[EUR][1000 genomes]
rs8061356	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs889514	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889515	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs9319481	0.96[EUR][1000 genomes]
rs9927264	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs9928842	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
5	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
15	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers 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	23 gene(s)	inside rSNPs	diseases
16	esv3329193	chr16:75298476-75301324	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75298400-75300800	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr16:75299000-75300800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:75300000-75300800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr16:75300000-75300800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:75300000-75300800	Flanking Active TSS	Fetal Muscle Trunk	muscle
6	chr16:75300000-75300800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr16:75300000-75300800	Flanking Active TSS	HSMM	muscle
8	chr16:75300000-75301000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:75300000-75301000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr16:75300000-75301200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:75300000-75301200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr16:75300000-75301200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr16:75300000-75301200	Flanking Active TSS	NHEK	skin
14	chr16:75300000-75301400	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr16:75300000-75301800	Enhancers	Fetal Brain Male	brain
16	chr16:75300000-75302000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:75300000-75302200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:75300200-75300800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:75300200-75300800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:75300200-75300800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:75300200-75300800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr16:75300200-75300800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:75300200-75300800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:75300200-75300800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr16:75300200-75300800	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr16:75300200-75300800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr16:75300200-75300800	Flanking Active TSS	Hela-S3	cervix
28	chr16:75300200-75300800	Flanking Active TSS	HSMMtube	muscle
29	chr16:75300200-75300800	Flanking Active TSS	K562	blood
30	chr16:75300200-75301000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr16:75300200-75301000	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr16:75300200-75301000	Bivalent Enhancer	Spleen	Spleen
33	chr16:75300200-75301000	Flanking Active TSS	HepG2	liver
34	chr16:75300200-75301200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:75300200-75301200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr16:75300200-75301200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:75300200-75301200	Flanking Active TSS	Fetal Brain Female	brain
38	chr16:75300200-75301400	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr16:75300200-75302400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:75300400-75300800	Flanking Active TSS	A549	lung
41	chr16:75300400-75301000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:75300400-75301000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr16:75300400-75301600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr16:75300400-75301800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:75300400-75302000	Weak transcription	Aorta	Aorta
46	chr16:75300400-75302000	Enhancers	Lung	lung
47	chr16:75300400-75302000	Enhancers	Right Atrium	heart
48	chr16:75300400-75302200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr16:75300400-75302400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:75300400-75302400	Enhancers	Cortex derived primary cultured neurospheres	brain

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