Variant report

Variant	rs72801305
Chromosome Location	chr16:69601642-69601643
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	POLR2A	chr16:69597676-69601656	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:69601422-69601865	PANC-1	pancreas:	n/a	n/a
3	HCFC1	chr16:69599080-69602061	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr16:69600662-69601730	IMR90	lung:	n/a	n/a
5	WRNIP1	chr16:69600667-69601682	GM12878	blood:	n/a	n/a
6	RUNX3	chr16:69600908-69601659	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr16:69600938-69601914	K562	blood:	n/a	n/a
8	POLR2A	chr16:69601095-69601683	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:69597687-69601653	GM12891	blood:	n/a	n/a
10	POLR2A	chr16:69601603-69601760	ProgFib	skin:	n/a	n/a
11	STAT5A	chr16:69600923-69601711	GM12878	blood:	n/a	chr16:69601216-69601224
12	MXI1	chr16:69598093-69601803	SK-N-SH	brain:	n/a	chr16:69598835-69598844 chr16:69598833-69598842
13	MTA3	chr16:69600499-69601809	GM12878	blood:	n/a	n/a
14	RAD21	chr16:69600980-69601648	HepG2	liver:	n/a	n/a
15	EP300	chr16:69597614-69601806	SK-N-SH	brain:	n/a	chr16:69598520-69598527 chr16:69600103-69600112 chr16:69601691-69601705 chr16:69600364-69600380 chr16:69598127-69598141 chr16:69600576-69600592 chr16:69599882-69599891 chr16:69599827-69599843 chr16:69600714-69600723 chr16:69600488-69600497 chr16:69599498-69599507
16	ZNF384	chr16:69600867-69601660	K562	blood:	n/a	n/a
17	POLR2A	chr16:69601010-69601663	GM12892	blood:	n/a	n/a
18	ZNF384	chr16:69600854-69601775	GM12878	blood:	n/a	n/a
19	UBTF	chr16:69599272-69601887	K562	blood:	n/a	n/a
20	MBD4	chr16:69600948-69601851	HepG2	liver:	n/a	n/a
21	CHD1	chr16:69598826-69601763	GM12878	blood:	n/a	chr16:69600157-69600167

No.	Distal block	Cell Line	Cell type
1	chr16:69382266..69384558-chr16:69599688..69602481,2	MCF-7	breast:
2	chr16:69361349..69363813-chr16:69599663..69601877,2	K562	blood:
3	chr16:69600367..69602326-chr16:69711711..69713637,2	K562	blood:
4	chr16:69418062..69420388-chr16:69599340..69603002,4	K562	blood:
5	chr16:69419330..69422413-chr16:69599537..69603088,3	MCF-7	breast:
6	chr16:69598159..69601662-chr16:69788408..69790769,3	K562	blood:
7	chr16:69456628..69460851-chr16:69598482..69601931,4	MCF-7	breast:
8	chr16:69361620..69363547-chr16:69601564..69603136,2	MCF-7	breast:
9	chr16:69599623..69601716-chr16:69757663..69760565,3	MCF-7	breast:

Variant related genes	Relation type
MIR1538	TF binding region
ENSG00000103018	Chromatin interaction
ENSG00000132604	Chromatin interaction
ENSG00000157315	Chromatin interaction
ENSG00000213380	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000181019	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11863900	1.00[ASN][1000 genomes]
rs11864904	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437137	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958951	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230557	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230612	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231138	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231474	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297088	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297207	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298718	1.00[ASN][1000 genomes]
rs45564335	1.00[ASN][1000 genomes]
rs55844704	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000913	1.00[ASN][1000 genomes]
rs56043436	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073658	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105992	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	1.00[ASN][1000 genomes]
rs56170853	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171157	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221028	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62057900	1.00[ASN][1000 genomes]
rs6499230	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499238	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689453	1.00[ASN][1000 genomes]
rs689454	1.00[ASN][1000 genomes]
rs689461	1.00[ASN][1000 genomes]
rs7190756	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193205	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72783105	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783116	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783117	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783118	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783119	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783121	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72783128	1.00[ASN][1000 genomes]
rs72783158	1.00[ASN][1000 genomes]
rs72783160	1.00[ASN][1000 genomes]
rs72783163	1.00[ASN][1000 genomes]
rs72783165	1.00[ASN][1000 genomes]
rs72783174	1.00[ASN][1000 genomes]
rs72783183	1.00[ASN][1000 genomes]
rs72783184	1.00[ASN][1000 genomes]
rs72799373	1.00[ASN][1000 genomes]
rs72799378	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799379	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799381	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799385	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799386	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799387	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799393	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799394	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799398	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799400	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799402	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801307	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801308	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801312	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801314	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801315	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801317	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801318	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801319	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801320	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801321	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801322	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801323	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801325	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801326	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801328	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801330	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801332	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801333	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801337	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801338	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801339	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801344	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801347	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801350	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801352	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801354	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049366	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055148	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases
2	esv3401540	chr16:69598976-69601824	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases
3	esv3337776	chr16:69599501-69601999	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69598000-69604600	Active TSS	GM12878-XiMat	blood
2	chr16:69598200-69602400	Active TSS	NHDF-Ad	bronchial
3	chr16:69598400-69601800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr16:69598400-69601800	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr16:69598400-69601800	Active TSS	Right Atrium	heart
6	chr16:69598400-69602000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:69598400-69602000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr16:69598400-69602400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr16:69598400-69602800	Active TSS	A549	lung
10	chr16:69598600-69601800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:69598600-69601800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:69598600-69602200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:69598600-69602400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:69598600-69602400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:69598600-69602400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:69598600-69602400	Active TSS	K562	blood
17	chr16:69598600-69602600	Active TSS	HSMMtube	muscle
18	chr16:69598600-69603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:69598800-69601800	Active TSS	Right Ventricle	heart
20	chr16:69598800-69602200	Active TSS	HSMM	muscle
21	chr16:69598800-69602400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:69598800-69602600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr16:69598800-69603600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:69599000-69601800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr16:69599000-69601800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:69599000-69601800	Active TSS	Brain Substantia Nigra	brain
27	chr16:69599000-69601800	Active TSS	Left Ventricle	heart
28	chr16:69599000-69601800	Bivalent/Poised TSS	HepG2	liver
29	chr16:69599000-69601800	Active TSS	NHEK	skin
30	chr16:69599000-69602000	Active TSS	Colonic Mucosa	Colon
31	chr16:69599000-69602400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:69599000-69602400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr16:69599000-69602400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr16:69599000-69602400	Active TSS	NHLF	lung
35	chr16:69599000-69602800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr16:69599200-69601800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr16:69599200-69601800	Active TSS	NH-A	brain
38	chr16:69599200-69602000	Active TSS	Esophagus	oesophagus
39	chr16:69599200-69602400	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr16:69599400-69601800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:69599400-69602000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:69599600-69603600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:69600800-69601800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr16:69600800-69601800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr16:69600800-69602000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr16:69600800-69602000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr16:69600800-69602000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr16:69600800-69602000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr16:69600800-69602000	Flanking Active TSS	Fetal Thymus	thymus
50	chr16:69600800-69602000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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