Variant report

Variant	rs531091087
Chromosome Location	chr16:47178858-47178859
allele	A/G
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	JUN	chr16:47178533-47178884	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr16:47176404-47178979	SK-N-SH	brain:	n/a	chr16:47177448-47177461 chr16:47177445-47177463
3	MAX	chr16:47176708-47178875	A549	lung:	n/a	n/a
4	SMC3	chr16:47175405-47179051	SK-N-SH	brain:	n/a	chr16:47177447-47177461 chr16:47177451-47177461
5	MAZ	chr16:47176637-47178990	IMR90	lung:	n/a	n/a
6	MXI1	chr16:47174718-47179290	SK-N-SH	brain:	n/a	n/a
7	E2F6	chr16:47176832-47178988	K562	blood:	n/a	chr16:47178006-47178015 chr16:47178099-47178109 chr16:47177858-47177867 chr16:47178129-47178139 chr16:47177429-47177438 chr16:47178100-47178110 chr16:47177006-47177016
8	RAD21	chr16:47175286-47178918	SK-N-SH	brain:	n/a	chr16:47177449-47177462 chr16:47177191-47177204 chr16:47177451-47177461 chr16:47177447-47177461 chr16:47177451-47177463 chr16:47176951-47176965 chr16:47177446-47177465
9	CTCF	chr16:47175367-47178983	A549	lung:	n/a	chr16:47177448-47177461 chr16:47177445-47177463

No.	Distal block	Cell Line	Cell type
1	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
2	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:
3	chr16:47178385..47180317-chr16:47705518..47707688,2	K562	blood:
4	chr16:47175524..47179141-chr16:47493736..47496005,3	MCF-7	breast:
5	chr16:47177383..47180950-chr16:47184423..47188537,5	K562	blood:

Variant related genes	Relation type
NETO2	TF binding region
ENSG00000069345	Chromatin interaction
ENSG00000102893	Chromatin interaction
ENSG00000239840	Chromatin interaction
ENSG00000261173	Chromatin interaction
ENSG00000129636	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1798659	chr16:47083332-47234379	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1823679	chr16:47089357-47194051	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv3394603	chr16:47175976-47179024	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv3500922	chr16:47176301-47179099	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv3500923	chr16:47176301-47179099	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv1841733	chr16:47177234-47188507	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1848974	chr16:47177234-47188507	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv1795577	chr16:47177234-47194051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	esv1798540	chr16:47177234-47194051	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	esv1806675	chr16:47177234-47194051	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	esv1816287	chr16:47177234-47194051	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
20	esv1801639	chr16:47177234-47224693	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
21	esv1801751	chr16:47177234-47224693	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	esv1838902	chr16:47177234-47234379	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	esv1850542	chr16:47177234-47234379	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
24	esv1847031	chr16:47177300-47188507	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv1795119	chr16:47177300-47224693	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
26	esv1841006	chr16:47177300-47271876	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
27	esv1848820	chr16:47177300-47271876	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
28	esv1799115	chr16:47177338-47224693	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47175400-47179000	Active TSS	A549	lung
2	chr16:47175600-47179000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:47175600-47179000	Active TSS	Brain Angular Gyrus	brain
4	chr16:47175800-47179000	Active TSS	Hela-S3	cervix
5	chr16:47176600-47179000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:47178400-47179000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:47178400-47179000	Enhancers	Fetal Brain Male	brain
8	chr16:47178400-47179000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr16:47178400-47179000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr16:47178600-47179000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:47178600-47179000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr16:47178600-47179000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:47178600-47179000	Bivalent Enhancer	Fetal Heart	heart
14	chr16:47178600-47179000	Bivalent Enhancer	Fetal Lung	lung
15	chr16:47178600-47179000	Bivalent Enhancer	Placenta	Placenta
16	chr16:47178600-47179000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
17	chr16:47178600-47181000	Weak transcription	K562	blood
18	chr16:47178600-47186200	Weak transcription	Ovary	ovary
19	chr16:47178600-47186400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:47178600-47187000	Weak transcription	Left Ventricle	heart
21	chr16:47178800-47179000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr16:47178800-47179000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:47178800-47179000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr16:47178800-47179000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr16:47178800-47179000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr16:47178800-47179000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr16:47178800-47179000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:47178800-47179000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:47178800-47179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:47178800-47179000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:47178800-47179000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr16:47178800-47179000	Enhancers	Fetal Kidney	kidney
33	chr16:47178800-47179000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr16:47178800-47179000	Active TSS	Rectal Smooth Muscle	rectum
35	chr16:47178800-47179000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
36	chr16:47178800-47179000	Active TSS	GM12878-XiMat	blood
37	chr16:47178800-47179000	Bivalent Enhancer	HepG2	liver
38	chr16:47178800-47179000	Enhancers	Osteobl	bone
39	chr16:47178800-47184000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:47178800-47184000	Weak transcription	Spleen	Spleen
41	chr16:47178800-47185800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:47178800-47185800	Weak transcription	Liver	Liver
43	chr16:47178800-47186000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr16:47178800-47186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:47178800-47186200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:47178800-47186400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:47178800-47186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:47178800-47186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:47178800-47186800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:47178800-47187000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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