Variant report

Variant	rs72563121
Chromosome Location	chr16:75688392-75688393
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	POLR2A	chr16:75688352-75688492	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75686117..75687728-chr16:75687810..75689374,2	MCF-7	breast:
2	chr16:75686643..75688597-chr16:75796082..75798583,2	MCF-7	breast:
3	chr16:75686566..75689385-chr16:75689669..75693543,4	K562	blood:

Variant related genes	Relation type
TERF2IP	TF binding region
ENSG00000166848	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11556641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940260	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940348	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940362	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940444	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941516	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550897	1.00[AMR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes]
rs2550903	1.00[AMR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550915	0.86[EUR][1000 genomes]
rs2641803	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes]
rs2650411	1.00[AMR][1000 genomes]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55862257	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56030666	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321575	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60919196	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7194333	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes]
rs74027420	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027421	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027424	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027425	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027427	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027428	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027431	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027432	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027433	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027436	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74027439	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027441	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027443	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192515	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs920037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75683600-75689800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:75683800-75691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:75683800-75692800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:75684400-75689000	Weak transcription	HSMMtube	muscle
5	chr16:75684400-75689400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:75684400-75689400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:75684400-75689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:75684600-75695400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:75684800-75688800	Weak transcription	Stomach Mucosa	stomach
10	chr16:75684800-75689200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:75684800-75689400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:75684800-75689800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:75685000-75689400	Weak transcription	Fetal Kidney	kidney
14	chr16:75685600-75688400	Weak transcription	Esophagus	oesophagus
15	chr16:75686000-75689200	Weak transcription	Hela-S3	cervix
16	chr16:75686200-75688400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr16:75686200-75689400	Weak transcription	Gastric	stomach
18	chr16:75686200-75689400	Weak transcription	Spleen	Spleen
19	chr16:75686200-75689400	Weak transcription	HMEC	breast
20	chr16:75686200-75689800	Weak transcription	Aorta	Aorta
21	chr16:75686200-75689800	Weak transcription	Pancreas	Pancrea
22	chr16:75686200-75690400	Weak transcription	Psoas Muscle	Psoas
23	chr16:75686200-75694400	Weak transcription	Right Atrium	heart
24	chr16:75686400-75689000	Weak transcription	HUVEC	blood vessel
25	chr16:75686400-75689400	Weak transcription	Fetal Brain Male	brain
26	chr16:75686400-75689400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:75686400-75695800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:75686600-75695200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:75686800-75688400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:75686800-75688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:75687000-75688400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:75687000-75688400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr16:75687000-75689400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:75687000-75693000	Strong transcription	K562	blood
35	chr16:75687000-75695400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr16:75687200-75688400	Weak transcription	Fetal Brain Female	brain
37	chr16:75687400-75688400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:75687400-75688400	Enhancers	Small Intestine	intestine
39	chr16:75687400-75690400	Strong transcription	Fetal Intestine Small	intestine
40	chr16:75687400-75691400	Weak transcription	Fetal Heart	heart
41	chr16:75687400-75692600	Strong transcription	Thymus	Thymus
42	chr16:75687400-75692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:75687400-75693000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr16:75687400-75693600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:75687400-75696000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr16:75687600-75688400	Genic enhancers	HSMM	muscle
47	chr16:75687600-75692400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr16:75687600-75692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:75687600-75692400	Strong transcription	HepG2	liver
50	chr16:75687600-75693600	Strong transcription	Rectal Mucosa Donor 31	rectum

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