Variant report

Variant	rs45568735
Chromosome Location	chr16:69746437-69746438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:69746263-69746528	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:69746278-69746614	HCT-116	colon:	n/a	n/a
3	POLR2A	chr16:69746242-69746685	HCT-116	colon:	n/a	n/a
4	MYC	chr16:69746255-69746564	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr16:69746421-69747245	HepG2	liver:	n/a	n/a
6	FOS	chr16:69746293-69746478	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr16:69746388-69746520	HepG2	liver:	n/a	n/a
8	FOS	chr16:69746262-69746500	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr16:69744207-69747991	A549	lung:	n/a	n/a
10	POLR2A	chr16:69745955-69746693	PANC-1	pancreas:	n/a	n/a
11	FOS	chr16:69746259-69746537	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr16:69746221-69746481	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr16:69746337-69746499	A549	lung:	n/a	n/a
14	POLR2A	chr16:69746226-69746571	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69741680..69751385-chr16:69755023..69763559,18	MCF-7	breast:
2	chr16:69745256..69747417-chr16:69779040..69781311,2	MCF-7	breast:
3	chr16:69741307..69747044-chr16:69787229..69790189,11	MCF-7	breast:
4	chr16:69744834..69746849-chr16:69751166..69754416,4	MCF-7	breast:
5	chr16:69744941..69747947-chr16:69754865..69757522,3	MCF-7	breast:
6	chr16:69727892..69730821-chr16:69744925..69746570,2	K562	blood:
7	chr16:69746030..69749754-chr16:69749797..69753294,3	K562	blood:
8	chr16:69744485..69751443-chr16:69758986..69763141,9	MCF-7	breast:
9	chr16:69743672..69747154-chr16:69795617..69797836,3	MCF-7	breast:
10	chr16:69742300..69746801-chr16:69786779..69790470,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238683	TF binding region
ENSG00000262136	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000181019	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10400955	1.00[EUR][1000 genomes]
rs11510266	1.00[EUR][1000 genomes]
rs11860910	1.00[EUR][1000 genomes]
rs13333561	1.00[EUR][1000 genomes]
rs13335267	1.00[EUR][1000 genomes]
rs13335499	1.00[EUR][1000 genomes]
rs13338793	1.00[EUR][1000 genomes]
rs28522432	1.00[EUR][1000 genomes]
rs28538568	1.00[EUR][1000 genomes]
rs28611042	1.00[EUR][1000 genomes]
rs28753861	1.00[EUR][1000 genomes]
rs28788800	1.00[EUR][1000 genomes]
rs45608334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56182388	1.00[EUR][1000 genomes]
rs57154889	1.00[EUR][1000 genomes]
rs58892726	1.00[EUR][1000 genomes]
rs60137705	1.00[EUR][1000 genomes]
rs60683406	1.00[EUR][1000 genomes]
rs60949042	1.00[EUR][1000 genomes]
rs61731358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184392	1.00[EUR][1000 genomes]
rs7185321	1.00[EUR][1000 genomes]
rs7185659	1.00[EUR][1000 genomes]
rs7186422	1.00[EUR][1000 genomes]
rs7188693	1.00[EUR][1000 genomes]
rs7189022	1.00[EUR][1000 genomes]
rs7189521	1.00[EUR][1000 genomes]
rs7190665	1.00[EUR][1000 genomes]
rs7191138	1.00[EUR][1000 genomes]
rs7193149	1.00[EUR][1000 genomes]
rs7197774	1.00[EUR][1000 genomes]
rs7199881	1.00[EUR][1000 genomes]
rs7200168	1.00[EUR][1000 genomes]
rs7200242	1.00[EUR][1000 genomes]
rs74029722	1.00[EUR][1000 genomes]
rs74029725	1.00[EUR][1000 genomes]
rs74029732	1.00[EUR][1000 genomes]
rs74029733	1.00[EUR][1000 genomes]
rs74029738	1.00[EUR][1000 genomes]
rs74029748	1.00[EUR][1000 genomes]
rs8052959	1.00[EUR][1000 genomes]
rs9921205	1.00[EUR][1000 genomes]
rs9925155	1.00[EUR][1000 genomes]
rs9929073	1.00[EUR][1000 genomes]
rs9934685	1.00[EUR][1000 genomes]
rs9934743	1.00[EUR][1000 genomes]
rs9934983	1.00[EUR][1000 genomes]
rs9935008	1.00[EUR][1000 genomes]
rs9939065	1.00[EUR][1000 genomes]
rs9940805	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv517207	chr16:69745145-69771914	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69709400-69755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:69726000-69755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:69726600-69759800	Weak transcription	Psoas Muscle	Psoas
4	chr16:69726800-69747600	Weak transcription	Fetal Heart	heart
5	chr16:69728200-69758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:69728400-69748800	Weak transcription	Gastric	stomach
7	chr16:69728400-69759200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:69728600-69752000	Weak transcription	Fetal Brain Male	brain
9	chr16:69729400-69760000	Weak transcription	Brain Germinal Matrix	brain
10	chr16:69729400-69760000	Weak transcription	Ovary	ovary
11	chr16:69729800-69748800	Weak transcription	Esophagus	oesophagus
12	chr16:69730000-69759000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr16:69730400-69747000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:69730600-69759800	Weak transcription	Fetal Brain Female	brain
15	chr16:69730800-69759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr16:69731800-69759600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:69731800-69759800	Weak transcription	Primary B cells from cord blood	blood
18	chr16:69731800-69759800	Weak transcription	Right Ventricle	heart
19	chr16:69733800-69759800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:69736000-69758600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr16:69737200-69758800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr16:69737400-69752600	Strong transcription	HSMMtube	muscle
23	chr16:69738400-69748400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:69738800-69759800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr16:69739000-69748800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:69739200-69759800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:69739400-69750200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:69740000-69747800	Strong transcription	NHDF-Ad	bronchial
29	chr16:69740200-69747400	Strong transcription	HSMM	muscle
30	chr16:69740200-69747600	Genic enhancers	A549	lung
31	chr16:69740800-69758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr16:69741000-69759200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:69741000-69759400	Weak transcription	Small Intestine	intestine
34	chr16:69741400-69756600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:69741600-69747600	Strong transcription	GM12878-XiMat	blood
36	chr16:69741600-69753400	Strong transcription	HUVEC	blood vessel
37	chr16:69741600-69759800	Weak transcription	Primary T cells from cord blood	blood
38	chr16:69743400-69747400	Genic enhancers	HMEC	breast
39	chr16:69743400-69747400	Genic enhancers	Osteobl	bone
40	chr16:69743800-69755600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:69743800-69758800	Weak transcription	Dnd41	blood
42	chr16:69743800-69760000	Weak transcription	Fetal Kidney	kidney
43	chr16:69744000-69747800	Strong transcription	HepG2	liver
44	chr16:69744000-69748600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:69744000-69759800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr16:69744200-69749000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:69744400-69746600	Genic enhancers	NH-A	brain
48	chr16:69744400-69747200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:69744400-69747200	Strong transcription	Adipose Nuclei	Adipose
50	chr16:69744400-69747200	Strong transcription	Brain Anterior Caudate	brain

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