Variant report

Variant	rs16941865
Chromosome Location	chr16:75687969-75687970
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	TCF12	chr16:75687683-75688372	SK-N-SH	brain:	n/a	n/a
2	ZNF384	chr16:75687873-75688193	GM12878	blood:	n/a	n/a
3	TCF12	chr16:75687752-75688304	SK-N-SH	brain:	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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11862663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865874	1.00[AMR][1000 genomes]
rs16941400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975622	1.00[AMR][1000 genomes]
rs1874023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098737	1.00[AMR][1000 genomes]
rs2099447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2161699	1.00[AMR][1000 genomes]
rs2865829	1.00[AMR][1000 genomes]
rs36101987	0.86[AFR][1000 genomes]
rs3896549	1.00[AMR][1000 genomes]
rs8046646	1.00[AMR][1000 genomes]
rs8047561	1.00[AMR][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	chr16:75684400-75688200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:75684400-75689000	Weak transcription	HSMMtube	muscle
6	chr16:75684400-75689400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:75684400-75689400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:75684400-75689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:75684600-75688000	Weak transcription	Fetal Intestine Large	intestine
10	chr16:75684600-75695400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:75684800-75688000	Enhancers	Primary B cells from peripheral blood	blood
12	chr16:75684800-75688000	Enhancers	Brain Substantia Nigra	brain
13	chr16:75684800-75688200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:75684800-75688800	Weak transcription	Stomach Mucosa	stomach
15	chr16:75684800-75689200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:75684800-75689400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:75684800-75689800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:75685000-75688200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:75685000-75689400	Weak transcription	Fetal Kidney	kidney
20	chr16:75685600-75688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:75685600-75688000	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:75685600-75688000	Weak transcription	NHEK	skin
23	chr16:75685600-75688200	Weak transcription	Colonic Mucosa	Colon
24	chr16:75685600-75688400	Weak transcription	Esophagus	oesophagus
25	chr16:75685800-75688000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr16:75685800-75688000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr16:75685800-75688000	Enhancers	Colon Smooth Muscle	Colon
28	chr16:75685800-75688200	Weak transcription	A549	lung
29	chr16:75686000-75688000	Enhancers	Brain Cingulate Gyrus	brain
30	chr16:75686000-75688000	Enhancers	Osteobl	bone
31	chr16:75686000-75689200	Weak transcription	Hela-S3	cervix
32	chr16:75686200-75688000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:75686200-75688000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:75686200-75688000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:75686200-75688000	Enhancers	Brain Hippocampus Middle	brain
36	chr16:75686200-75688000	Weak transcription	Placenta	Placenta
37	chr16:75686200-75688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:75686200-75688200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:75686200-75688200	Weak transcription	Right Ventricle	heart
40	chr16:75686200-75688400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr16:75686200-75689400	Weak transcription	Gastric	stomach
42	chr16:75686200-75689400	Weak transcription	Spleen	Spleen
43	chr16:75686200-75689400	Weak transcription	HMEC	breast
44	chr16:75686200-75689800	Weak transcription	Aorta	Aorta
45	chr16:75686200-75689800	Weak transcription	Pancreas	Pancrea
46	chr16:75686200-75690400	Weak transcription	Psoas Muscle	Psoas
47	chr16:75686200-75694400	Weak transcription	Right Atrium	heart
48	chr16:75686400-75688000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:75686400-75688200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:75686400-75689000	Weak transcription	HUVEC	blood vessel

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