Variant report

Variant	rs4500720
Chromosome Location	chr16:81812275-81812276
allele	C/T
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	CEBPB	chr16:81812097-81812436	Hela-S3	cervix:	n/a	n/a
2	MAX	chr16:81812263-81813791	A549	lung:	n/a	chr16:81812862-81812881 chr16:81812867-81812876 chr16:81813024-81813035 chr16:81812865-81812878 chr16:81812752-81812762
3	MTA3	chr16:81812263-81812790	GM12878	blood:	n/a	n/a
4	E2F4	chr16:81812193-81812780	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81811097..81813033-chr16:81817790..81820555,3	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11643670	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3935647	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4312300	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4401042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494534	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4494535	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4496135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4511521	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587966	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58271299	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7195041	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7198191	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7198995	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7199605	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7499585	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9944386	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9944387	0.85[AMR][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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3372455	chr16:81810851-81815149	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3343864	chr16:81812151-81814049	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81807600-81812400	Weak transcription	Left Ventricle	heart
2	chr16:81808800-81812400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:81811800-81812400	Enhancers	Primary B cells from peripheral blood	blood
4	chr16:81811800-81812400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr16:81811800-81812400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:81811800-81813400	Active TSS	K562	blood
7	chr16:81812000-81812400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr16:81812000-81812400	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr16:81812000-81812400	Flanking Active TSS	A549	lung
10	chr16:81812000-81812400	Flanking Active TSS	Hela-S3	cervix
11	chr16:81812000-81812600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:81812000-81812600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr16:81812000-81812600	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr16:81812000-81813200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:81812000-81814000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr16:81812200-81812400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:81812200-81812400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:81812200-81812400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr16:81812200-81812400	Enhancers	Primary T cells from cord blood	blood
20	chr16:81812200-81812400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr16:81812200-81812400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr16:81812200-81812400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
23	chr16:81812200-81812400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr16:81812200-81812400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr16:81812200-81812400	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr16:81812200-81812400	Enhancers	Placenta	Placenta
27	chr16:81812200-81812400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr16:81812200-81812400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
29	chr16:81812200-81812400	Enhancers	Right Atrium	heart
30	chr16:81812200-81812400	Bivalent Enhancer	Thymus	Thymus
31	chr16:81812200-81812400	Flanking Active TSS	GM12878-XiMat	blood
32	chr16:81812200-81812400	Flanking Active TSS	HMEC	breast
33	chr16:81812200-81812400	Flanking Active TSS	HUVEC	blood vessel
34	chr16:81812200-81812600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr16:81812200-81812600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr16:81812200-81812600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:81812200-81812600	Enhancers	Esophagus	oesophagus
38	chr16:81812200-81812600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr16:81812200-81812600	Enhancers	Small Intestine	intestine
40	chr16:81812200-81812600	Enhancers	Spleen	Spleen
41	chr16:81812200-81812800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr16:81812200-81812800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:81812200-81812800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr16:81812200-81812800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr16:81812200-81813000	Active TSS	NHEK	skin
46	chr16:81812200-81813600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr16:81812200-81813600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:81812200-81813800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr16:81812200-81813800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr16:81812200-81814000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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