Variant report

Variant	rs9932863
Chromosome Location	chr16:81514750-81514751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81514352-81515425	GM19099	blood:	n/a	n/a
2	MAZ	chr16:81514624-81515400	GM12878	blood:	n/a	n/a
3	RCOR1	chr16:81514276-81515401	GM12878	blood:	n/a	n/a
4	RELA	chr16:81514633-81515424	GM15510	blood:	n/a	n/a
5	TCF3	chr16:81514724-81515336	GM12878	blood:	n/a	n/a
6	MAX	chr16:81514680-81515395	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:81514420-81515423	K562	blood:	n/a	n/a
8	CEBPB	chr16:81514350-81515324	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:81514114-81515543	GM12892	blood:	n/a	n/a
10	RAD21	chr16:81514635-81515445	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:81514433-81515394	GM12891	blood:	n/a	n/a
12	ELK1	chr16:81514585-81515385	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:81514511-81515330	GM18951	blood:	n/a	n/a
14	POLR2A	chr16:81514281-81515452	GM12892	blood:	n/a	n/a
15	SPI1	chr16:81514495-81515662	GM12878	blood:	n/a	chr16:81515107-81515120 chr16:81515111-81515118 chr16:81515110-81515119 chr16:81515108-81515121
16	MAX	chr16:81514491-81515425	NB4	blood:	n/a	n/a
17	RUNX3	chr16:81514707-81515555	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:81514450-81515395	GM12878	blood:	n/a	n/a
19	TEAD4	chr16:81514730-81515566	K562	blood:	n/a	n/a
20	POLR2A	chr16:81514277-81515457	GM12891	blood:	n/a	n/a
21	MAX	chr16:81514443-81515485	K562	blood:	n/a	n/a
22	POLR2A	chr16:81514440-81515351	GM18526	blood:	n/a	n/a
23	POLR2A	chr16:81514464-81515483	GM12892	blood:	n/a	n/a
24	RELA	chr16:81514267-81515447	GM12891	blood:	n/a	n/a
25	JUN	chr16:81514165-81515513	K562	blood:	n/a	n/a
26	HCFC1	chr16:81514633-81514792	K562	blood:	n/a	n/a
27	STAT5A	chr16:81514117-81515467	GM12878	blood:	n/a	chr16:81515113-81515120
28	CBX3	chr16:81514740-81515470	K562	blood:	n/a	n/a
29	E2F6	chr16:81514536-81515002	K562	blood:	n/a	n/a
30	POLR2A	chr16:81510977-81518691	A549	lung:	n/a	n/a
31	CHD2	chr16:81514339-81515462	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:81514289-81515489	GM12878	blood:	n/a	n/a
33	NFIC	chr16:81514131-81515570	GM12878	blood:	n/a	n/a
34	CTCF	chr16:81514640-81514790	GM12873	blood:	n/a	n/a
35	POLR2A	chr16:81514184-81515452	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:81514263-81515166	GM12891	blood:	n/a	n/a
37	POLR2A	chr16:81514226-81515349	K562	blood:	n/a	n/a
38	RELA	chr16:81514645-81515380	GM18951	blood:	n/a	n/a
39	POLR2A	chr16:81514190-81515441	GM12891	blood:	n/a	n/a
40	CTCF	chr16:81514660-81514810	GM12864	blood:	n/a	n/a
41	MTA3	chr16:81514133-81515501	GM12878	blood:	n/a	n/a
42	POLR2A	chr16:81514529-81515425	GM12892	blood:	n/a	n/a
43	POU2F2	chr16:81514743-81515456	GM12891	blood:	n/a	n/a
44	POLR2A	chr16:81514750-81515263	GM12878	blood:	n/a	n/a
45	NFATC1	chr16:81514704-81515478	GM12878	blood:	n/a	n/a
46	NFATC1	chr16:81514566-81515466	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:81514042-81515495	GM12878	blood:	n/a	n/a
48	MAX	chr16:81514545-81514904	K562	blood:	n/a	n/a
49	RUNX3	chr16:81514269-81515507	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:81514729-81515494	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81477417..81480247-chr16:81511265..81517424,6	MCF-7	breast:
2	chr16:81513398..81515319-chr16:81515579..81518063,2	MCF-7	breast:
3	chr16:81512810..81515349-chr16:81620937..81623015,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260229	TF binding region
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12596103	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12596138	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12596605	1.00[CEU][hapmap]
rs12599890	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs13330589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13333580	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes]
rs16955379	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16955417	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306115	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3803656	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs9928008	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	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
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv521875	chr16:81510742-81514750	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
2	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
5	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
9	chr16:81505800-81515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
11	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:81506800-81517600	Weak transcription	HMEC	breast
14	chr16:81507000-81514800	Weak transcription	Brain Angular Gyrus	brain
15	chr16:81507600-81516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:81507600-81518400	Enhancers	Spleen	Spleen
17	chr16:81507800-81516400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr16:81507800-81519400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:81508000-81516400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr16:81508000-81518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:81508200-81514800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr16:81508600-81519400	Weak transcription	Ovary	ovary
23	chr16:81509400-81518000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr16:81509800-81517600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr16:81509800-81518600	Enhancers	Lung	lung
26	chr16:81510000-81516000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr16:81510000-81517200	Enhancers	Small Intestine	intestine
28	chr16:81510000-81518400	Enhancers	Placenta	Placenta
29	chr16:81510000-81518800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr16:81510200-81516000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:81510200-81517000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr16:81510400-81522400	Weak transcription	Fetal Brain Female	brain
33	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:81510600-81518000	Enhancers	Liver	Liver
35	chr16:81510600-81521200	Enhancers	Stomach Mucosa	stomach
36	chr16:81510800-81514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:81511000-81517000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr16:81511200-81514800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:81511200-81515200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:81511400-81527000	Enhancers	Fetal Muscle Leg	muscle
41	chr16:81511600-81515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr16:81511600-81517200	Enhancers	Pancreas	Pancrea
43	chr16:81511600-81518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr16:81511800-81515800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr16:81512000-81514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:81512000-81516200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr16:81512200-81515000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:81512400-81514800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:81512400-81515800	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:81512400-81515800	Weak transcription	Right Ventricle	heart

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