Variant report

Variant	rs11640470
Chromosome Location	chr16:75299437-75299438
allele	A/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	YY1	chr16:75299339-75300293	K562	blood:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
2	CHD1	chr16:75299157-75299542	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr16:75299240-75299540	HepG2	liver:	n/a	n/a
4	HCFC1	chr16:75299332-75300587	Hela-S3	cervix:	n/a	n/a
5	SIN3A	chr16:75298794-75300213	H1-hESC	embryonic stem cell:	n/a	chr16:75300114-75300127 chr16:75299469-75299482 chr16:75299408-75299421
6	POLR2A	chr16:75297374-75299567	U87	brain:	n/a	n/a
7	POLR2A	chr16:75299084-75300352	GM19193	blood:	n/a	n/a
8	ZBTB7A	chr16:75299198-75300272	K562	blood:	n/a	n/a
9	SMARCB1	chr16:75298541-75300871	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr16:75299010-75300434	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:75298559-75300896	HepG2	liver:	n/a	n/a
12	STAT5A	chr16:75299271-75299549	GM12878	blood:	n/a	n/a
13	CREB1	chr16:75299428-75300131	A549	lung:	n/a	n/a
14	POLR2A	chr16:75297599-75300241	HUVEC	blood vessel:	n/a	n/a
15	YY1	chr16:75299174-75300284	HepG2	liver:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
16	POLR2A	chr16:75299117-75300275	HepG2	liver:	n/a	n/a
17	MAZ	chr16:75299125-75300446	K562	blood:	n/a	n/a
18	POLR2A	chr16:75297540-75300237	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr16:75297637-75300252	IMR90	lung:	n/a	n/a
20	POLR2A	chr16:75297799-75300232	HUVEC	blood vessel:	n/a	n/a
21	REST	chr16:75298827-75300577	H1-neurons	neurons:	n/a	chr16:75300117-75300130
22	SMARCC1	chr16:75297839-75299515	Hela-S3	cervix:	n/a	chr16:75297950-75297959
23	HDAC2	chr16:75299371-75300276	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:75298738-75299451	HUVEC	blood vessel:	n/a	n/a
25	ELF1	chr16:75299375-75300603	GM12878	blood:	n/a	n/a
26	RUNX3	chr16:75298973-75299512	GM12878	blood:	n/a	n/a
27	ZBTB7A	chr16:75299122-75300492	K562	blood:	n/a	n/a
28	POLR2A	chr16:75298957-75300248	ProgFib	skin:	n/a	n/a
29	ZBTB7A	chr16:75298719-75300857	ECC-1	luminal epithelium:	n/a	n/a
30	HMGN3	chr16:75299010-75300244	K562	blood:	n/a	n/a
31	CCNT2	chr16:75299169-75300288	K562	blood:	n/a	chr16:75300086-75300095
32	TCF12	chr16:75298898-75299565	A549	lung:	n/a	chr16:75299408-75299418
33	MAZ	chr16:75297263-75301010	IMR90	lung:	n/a	chr16:75300514-75300525
34	SIN3AK20	chr16:75298576-75300848	MCF-7	breast:	n/a	n/a
35	MXI1	chr16:75298731-75300199	HepG2	liver:	n/a	n/a
36	ZBTB7A	chr16:75298913-75300952	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr16:75299384-75300212	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75297370..75301171-chr16:75316900..75323378,8	MCF-7	breast:
2	chr16:75181071..75184316-chr16:75297168..75299985,3	MCF-7	breast:
3	chr16:75298469..75301995-chr16:75337781..75340827,6	MCF-7	breast:
4	chr1:149856624..149859065-chr16:75299349..75301400,2	MCF-7	breast:
5	chr16:75285160..75285722-chr16:75299383..75300023,2	MCF-7	breast:
6	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
7	chr16:75296409..75300528-chr16:75549238..75552790,3	MCF-7	breast:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000153774	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000252101	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000184517	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11149810	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11538269	0.80[EUR][1000 genomes]
rs1862737	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4493083	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7197999	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8062565	0.84[AMR][1000 genomes];0.85[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75297200-75299600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr16:75297400-75300400	Active TSS	Aorta	Aorta
3	chr16:75297800-75300400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:75298000-75300400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr16:75298200-75300600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr16:75298200-75300600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr16:75298400-75300200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:75298400-75300200	Active TSS	HSMMtube	muscle
9	chr16:75298400-75300200	Active TSS	NHDF-Ad	bronchial
10	chr16:75298400-75300400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:75298400-75300800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr16:75298600-75300000	Active TSS	Spleen	Spleen
13	chr16:75298600-75300000	Active TSS	HSMM	muscle
14	chr16:75298600-75300000	Active TSS	NHLF	lung
15	chr16:75298600-75300200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:75298600-75300200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr16:75298600-75300200	Active TSS	Ovary	ovary
18	chr16:75298600-75300400	Active TSS	Small Intestine	intestine
19	chr16:75298600-75300600	Active TSS	Fetal Kidney	kidney
20	chr16:75298800-75299600	Active TSS	Fetal Heart	heart
21	chr16:75298800-75299600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr16:75298800-75299800	Active TSS	Right Atrium	heart
23	chr16:75298800-75300000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr16:75298800-75300000	Active TSS	HUVEC	blood vessel
25	chr16:75298800-75300000	Active TSS	NH-A	brain
26	chr16:75298800-75300000	Active TSS	Osteobl	bone
27	chr16:75298800-75300200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr16:75298800-75300200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr16:75298800-75300200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr16:75298800-75300200	Active TSS	Brain Angular Gyrus	brain
31	chr16:75298800-75300200	Active TSS	Brain Anterior Caudate	brain
32	chr16:75298800-75300200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:75298800-75300200	Active TSS	Colon Smooth Muscle	Colon
34	chr16:75298800-75300200	Active TSS	Fetal Lung	lung
35	chr16:75298800-75300200	Active TSS	Left Ventricle	heart
36	chr16:75298800-75300200	Active TSS	Right Ventricle	heart
37	chr16:75298800-75300200	Active TSS	HepG2	liver
38	chr16:75298800-75300400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr16:75298800-75300400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:75299000-75299600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr16:75299000-75299600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr16:75299000-75299800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:75299000-75300000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:75299000-75300000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:75299000-75300000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:75299000-75300000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:75299000-75300000	Active TSS	Brain Hippocampus Middle	brain
48	chr16:75299000-75300000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr16:75299000-75300000	Weak transcription	Fetal Brain Male	brain
50	chr16:75299000-75300000	Active TSS	Pancreas	Pancrea

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