Variant report

Variant	rs11722300
Chromosome Location	chr4:15685051-15685052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:15682912-15686646	K562	blood:	n/a	n/a
2	TBL1XR1	chr4:15685002-15685104	K562	blood:	n/a	n/a
3	MYC	chr4:15684198-15685077	MCF10A-Er-Src	breast:	n/a	n/a
4	JUN	chr4:15684876-15685131	K562	blood:	n/a	n/a
5	POLR2A	chr4:15682835-15685064	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15681678..15685124-chr4:15685309..15687808,5	MCF-7	breast:
2	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
3	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:
4	chr4:15655595..15658742-chr4:15680185..15687360,10	MCF-7	breast:
5	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:
6	chr4:15479910..15482087-chr4:15683434..15685124,3	MCF-7	breast:

No data

Variant related genes	Relation type
FAM200B	TF binding region
FBXL5	TF binding region
ENSG00000118564	Chromatin interaction
ENSG00000237765	Chromatin interaction
ENSG00000048342	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10005305	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008878	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10015827	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10017222	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10025875	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10433813	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11722854	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11729955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11730088	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732953	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11947383	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13134177	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17405811	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394730	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28604503	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35519415	0.84[EUR][1000 genomes]
rs3756246	0.93[EUR][1000 genomes]
rs3775956	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4554069	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6449152	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6815296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827406	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6848779	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7434484	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9994518	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15679400-15685400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:15679400-15685600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:15679600-15685400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:15679600-15685600	Active TSS	A549	lung
5	chr4:15681000-15685400	Active TSS	NH-A	brain
6	chr4:15681600-15685400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:15681800-15685600	Active TSS	NHLF	lung
8	chr4:15681800-15686200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr4:15682000-15685200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:15682000-15685200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:15682000-15685400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:15682000-15685600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:15682000-15685600	Active TSS	HMEC	breast
14	chr4:15682600-15685200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr4:15683600-15685200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:15683600-15687600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr4:15683800-15686800	Weak transcription	Gastric	stomach
18	chr4:15684000-15686200	Weak transcription	Esophagus	oesophagus
19	chr4:15684000-15686200	Weak transcription	Spleen	Spleen
20	chr4:15684000-15688000	Weak transcription	Pancreas	Pancrea
21	chr4:15684000-15691000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:15684000-15692400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:15684000-15697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:15684000-15704400	Weak transcription	Left Ventricle	heart
25	chr4:15684200-15685200	Flanking Active TSS	HUVEC	blood vessel
26	chr4:15684200-15685600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:15684200-15687400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:15684400-15685200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:15684400-15685600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:15684400-15686200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:15684400-15686200	Weak transcription	Placenta	Placenta
32	chr4:15684400-15687200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:15684400-15692200	Weak transcription	Right Ventricle	heart
34	chr4:15684600-15685200	Enhancers	Adipose Nuclei	Adipose
35	chr4:15684600-15685600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:15684600-15685600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:15684600-15685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:15684600-15685600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr4:15684600-15685600	Weak transcription	Small Intestine	intestine
40	chr4:15684600-15686000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:15684600-15686000	Enhancers	Fetal Heart	heart
42	chr4:15684600-15686200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:15684600-15686200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:15684600-15686200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:15684600-15686200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:15684600-15686400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:15684600-15686600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:15684600-15686600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:15684600-15686800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:15684600-15686800	Enhancers	Brain Substantia Nigra	brain

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