Variant report

Variant	rs72796678
Chromosome Location	chr16:74902848-74902849
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	chr16:74902093..74904215-chr16:74917294..74919124,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1024503	1.00[ASN][1000 genomes]
rs10514386	1.00[ASN][1000 genomes]
rs11645307	1.00[ASN][1000 genomes]
rs11863300	1.00[ASN][1000 genomes]
rs11864313	1.00[ASN][1000 genomes]
rs11864349	1.00[ASN][1000 genomes]
rs11866550	1.00[ASN][1000 genomes]
rs12444462	1.00[ASN][1000 genomes]
rs12444618	1.00[ASN][1000 genomes]
rs12445200	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12446147	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447968	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12919626	1.00[ASN][1000 genomes]
rs12921263	1.00[ASN][1000 genomes]
rs14308	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28810133	1.00[ASN][1000 genomes]
rs34130324	1.00[ASN][1000 genomes]
rs34393456	1.00[ASN][1000 genomes]
rs34398985	1.00[ASN][1000 genomes]
rs34937987	1.00[ASN][1000 genomes]
rs34992867	1.00[ASN][1000 genomes]
rs35038783	1.00[ASN][1000 genomes]
rs35173843	1.00[ASN][1000 genomes]
rs35195349	1.00[ASN][1000 genomes]
rs35456018	1.00[ASN][1000 genomes]
rs35937344	1.00[ASN][1000 genomes]
rs4887788	1.00[ASN][1000 genomes]
rs4888281	1.00[ASN][1000 genomes]
rs4888307	1.00[ASN][1000 genomes]
rs4985359	1.00[ASN][1000 genomes]
rs55727944	1.00[ASN][1000 genomes]
rs55836977	1.00[ASN][1000 genomes]
rs55859029	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009261	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs58303079	1.00[ASN][1000 genomes]
rs62052860	1.00[ASN][1000 genomes]
rs62052861	1.00[ASN][1000 genomes]
rs71392613	1.00[ASN][1000 genomes]
rs71392614	1.00[ASN][1000 genomes]
rs71392615	1.00[ASN][1000 genomes]
rs7203228	1.00[ASN][1000 genomes]
rs72794783	1.00[ASN][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796672	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796696	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798603	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798608	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798613	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798621	1.00[ASN][1000 genomes]
rs72798647	1.00[ASN][1000 genomes]
rs72798648	1.00[ASN][1000 genomes]
rs72798683	1.00[ASN][1000 genomes]
rs72798700	1.00[ASN][1000 genomes]
rs74024559	1.00[ASN][1000 genomes]
rs74024565	1.00[ASN][1000 genomes]
rs8047659	1.00[ASN][1000 genomes]
rs8062012	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937139	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	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
11	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74884000-74905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:74896800-74903200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr16:74896800-74905400	Weak transcription	Liver	Liver
4	chr16:74896800-74905600	Weak transcription	Brain Substantia Nigra	brain
5	chr16:74896800-74907600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:74896800-74925200	Weak transcription	Stomach Mucosa	stomach
7	chr16:74897000-74904200	Weak transcription	Fetal Intestine Small	intestine
8	chr16:74897000-74905600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:74897000-74907600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:74897000-74913000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:74897000-74917400	Weak transcription	Hela-S3	cervix
12	chr16:74897200-74905600	Weak transcription	Brain Anterior Caudate	brain
13	chr16:74897200-74907200	Weak transcription	Brain Hippocampus Middle	brain
14	chr16:74897200-74907600	Weak transcription	GM12878-XiMat	blood
15	chr16:74897200-74909000	Weak transcription	A549	lung
16	chr16:74897200-74914400	Weak transcription	K562	blood
17	chr16:74897800-74909000	Weak transcription	Fetal Heart	heart
18	chr16:74900000-74903200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:74900200-74903800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:74900200-74905600	Weak transcription	Thymus	Thymus
21	chr16:74900200-74907200	Weak transcription	Fetal Brain Female	brain
22	chr16:74900200-74907600	Weak transcription	Gastric	stomach
23	chr16:74900200-74907800	Weak transcription	HSMMtube	muscle
24	chr16:74900400-74903200	Weak transcription	Fetal Stomach	stomach
25	chr16:74900400-74903800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr16:74900400-74903800	Enhancers	HepG2	liver
27	chr16:74900400-74904000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:74900400-74905200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr16:74900400-74905400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:74900400-74906200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr16:74900400-74906600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr16:74900400-74907800	Weak transcription	Brain Germinal Matrix	brain
33	chr16:74900400-74920000	Weak transcription	Fetal Brain Male	brain
34	chr16:74900600-74903000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:74900600-74903000	Weak transcription	Lung	lung
36	chr16:74900600-74903400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr16:74900600-74903600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr16:74900600-74905400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:74900600-74905600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:74900600-74905600	Weak transcription	NHDF-Ad	bronchial
41	chr16:74900600-74907200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:74900600-74907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:74900600-74907600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:74900600-74907600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr16:74900600-74907800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:74900600-74913000	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:74900600-74914400	Weak transcription	HSMM	muscle
48	chr16:74900800-74905600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:74900800-74907800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:74901000-74903400	Enhancers	Primary T cells fromperipheralblood	blood

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