Variant report

Variant	rs11966320
Chromosome Location	chr6:27220066-27220067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:27218655-27220079	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr6:27218575-27220172	K562	blood:	n/a	n/a
3	TEAD4	chr6:27218428-27220231	K562	blood:	n/a	n/a
4	MAX	chr6:27218549-27220163	MCF-7	breast:	n/a	n/a
5	MAX	chr6:27218798-27220196	A549	lung:	n/a	n/a
6	PML	chr6:27219378-27220127	GM12878	blood:	n/a	n/a
7	MAX	chr6:27218635-27220214	K562	blood:	n/a	n/a
8	TCF12	chr6:27219341-27220170	ECC-1	luminal epithelium:	n/a	n/a
9	ZNF143	chr6:27219463-27220107	K562	blood:	n/a	n/a
10	CTCF	chr6:27219357-27220348	A549	lung:	n/a	n/a
11	POLR2A	chr6:27218696-27220117	SK-N-MC	brain:	n/a	n/a
12	CTCF	chr6:27219428-27220088	K562	blood:	n/a	n/a
13	POLR2A	chr6:27218749-27220114	HCT-116	colon:	n/a	n/a
14	GABPA	chr6:27218733-27220161	MCF-7	breast:	n/a	n/a
15	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a
16	POLR2A	chr6:27218568-27220066	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr6:27219459-27220092	K562	blood:	n/a	n/a
18	POLR2A	chr6:27218773-27220081	MCF-7	breast:	n/a	n/a
19	RCOR1	chr6:27219426-27220126	K562	blood:	n/a	n/a
20	TEAD4	chr6:27219578-27220095	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr6:27218625-27220103	K562	blood:	n/a	n/a
22	MAX	chr6:27218600-27220170	ECC-1	luminal epithelium:	n/a	n/a
23	TRIM28	chr6:27219389-27220147	K562	blood:	n/a	n/a
24	MTA3	chr6:27219376-27220145	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:27218580-27220077	K562	blood:	n/a	n/a
26	NR2F2	chr6:27219335-27220160	K562	blood:	n/a	n/a
27	MAX	chr6:27218677-27220110	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr6:27218367-27220130	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr6:27218714-27220173	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:27217747-27220268	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:27219412-27220092	H1-neurons	neurons:	n/a	n/a
32	SIN3A	chr6:27218550-27220081	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr6:27219590-27220126	H1-hESC	embryonic stem cell:	n/a	n/a
34	GABPA	chr6:27219401-27220212	MCF-7	breast:	n/a	n/a
35	TBL1XR1	chr6:27219484-27220166	K562	blood:	n/a	n/a
36	ZNF143	chr6:27219459-27220072	H1-hESC	embryonic stem cell:	n/a	n/a
37	ELF1	chr6:27218621-27220165	MCF-7	breast:	n/a	n/a
38	POLR2A	chr6:27219517-27220086	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr6:27219400-27220106	PANC-1	pancreas:	n/a	n/a
40	JUN	chr6:27219755-27220162	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUN	chr6:27218635-27221218	K562	blood:	n/a	n/a
42	ZNF263	chr6:27218631-27220235	HEK293-T-REx	kidney:	n/a	n/a
43	MAFK	chr6:27219647-27220080	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:26285137..26286889-chr6:27219184..27221854,2	MCF-7	breast:
3	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
4	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
5	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:

No data

Variant related genes	Relation type
PRSS16	TF binding region
ENSG00000185130	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11961579	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11964648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16894368	0.84[EUR][1000 genomes]
rs16894783	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16894944	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5030953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030959	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57404247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57493110	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60836835	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67591395	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6919033	0.84[EUR][1000 genomes]
rs6933745	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73384391	0.84[EUR][1000 genomes]
rs73386672	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73388505	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388512	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73388562	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73388593	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73388597	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73388601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73390612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73390662	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7749652	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9295732	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9368492	0.90[AFR][1000 genomes]
rs9368493	0.87[AFR][1000 genomes]
rs9379965	0.90[AFR][1000 genomes]
rs9393796	0.87[AFR][1000 genomes]
rs9468025	0.84[AFR][1000 genomes];0.89[ASN][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3366700	chr6:27218098-27220596	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27217800-27220200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:27218000-27220200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27218000-27220200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr6:27218200-27220200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:27218200-27220200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:27218200-27220200	Active TSS	Duodenum Mucosa	Duodenum
7	chr6:27218200-27220400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:27218400-27220200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:27218400-27220200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:27218400-27220200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr6:27218400-27220400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:27218400-27220600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:27218600-27220200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:27218600-27220200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:27218800-27220200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:27218800-27220200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:27219000-27220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:27219000-27220200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:27219200-27220200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr6:27219200-27220200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr6:27219400-27220200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr6:27219600-27220200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
23	chr6:27219600-27220200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
24	chr6:27219600-27220200	Flanking Bivalent TSS/Enh	Placenta	Placenta
25	chr6:27219800-27220200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:27219800-27220200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:27219800-27220200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:27219800-27220200	Bivalent Enhancer	Fetal Heart	heart
29	chr6:27219800-27220200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
30	chr6:27219800-27220200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:27219800-27220200	Flanking Active TSS	Pancreas	Pancrea
32	chr6:27219800-27220200	Flanking Active TSS	Hela-S3	cervix
33	chr6:27219800-27220200	Flanking Active TSS	HMEC	breast
34	chr6:27219800-27220400	Flanking Active TSS	K562	blood
35	chr6:27219800-27222200	Weak transcription	Right Atrium	heart
36	chr6:27220000-27220200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:27220000-27220200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:27220000-27220200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:27220000-27220200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:27220000-27220200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:27220000-27220200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr6:27220000-27220200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:27220000-27220200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr6:27220000-27220200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr6:27220000-27220200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:27220000-27220200	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr6:27220000-27220200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr6:27220000-27220200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr6:27220000-27220200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr6:27220000-27220200	Bivalent Enhancer	Stomach Mucosa	stomach

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