Variant report

Variant	rs564998697
Chromosome Location	chr5:16180095-16180096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:16177252-16182613	SK-N-SH	brain:	n/a	n/a
2	E2F6	chr5:16180078-16180910	H1-hESC	embryonic stem cell:	n/a	chr5:16180114-16180124
3	CTCF	chr5:16180080-16180230	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr5:16178782-16180642	H1-neurons	neurons:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:16180068-16180118	SKMC	muscle:	n/a
2	chr5:16180055-16180105	HEK293	kidney:	embryo
3	chr5:16180062-16180112	HNPCEpiC	eye:	n/a
4	chr5:16180076-16180126	BE2_C	brain:	n/a
5	chr5:16180055-16180105	AG04450	lung:	fetal
6	chr5:16180062-16180112	PFSK-1	brain:	n/a
7	chr5:16180055-16180105	ovcar-3	ovarian:	n/a
8	chr5:16180048-16180098	NT2-D1	testis:	n/a
9	chr5:16180072-16180122	HCT-116	colon:	n/a
10	chr5:16180048-16180098	GM12878	blood:	n/a
11	chr5:16180048-16180098	HEK293	kidney:	embryo
12	chr5:16180048-16180098	PANC-1	pancreas:	n/a
13	chr5:16180072-16180122	K562	blood:	n/a
14	chr5:16180055-16180105	GM06990	blood:	n/a
15	chr5:16180076-16180126	HRE	kidney:	n/a
16	chr5:16180062-16180112	AG10803	skin:	n/a
17	chr5:16180072-16180122	PFSK-1	brain:	n/a
18	chr5:16180048-16180098	HCF	heart:	n/a
19	chr5:16180062-16180112	NH-A	brain:	n/a
20	chr5:16180072-16180122	HAEpiC	amniotic membrane:	n/a
21	chr5:16180048-16180098	Hela-S3	cervix:	n/a
22	chr5:16180048-16180098	SKMC	muscle:	n/a
23	chr5:16180076-16180126	Hela-S3	cervix:	n/a
24	chr5:16180072-16180122	SK-N-SH_RA	brain:	n/a
25	chr5:16180062-16180112	AoSMC	blood vessel:	n/a
26	chr5:16180068-16180118	U87	brain:	n/a
27	chr5:16180076-16180126	Jurkat	blood:	n/a
28	chr5:16180068-16180118	PANC-1	pancreas:	n/a
29	chr5:16180072-16180122	Hepatocyte	liver:	n/a
30	chr5:16180068-16180118	GM12891	blood:	n/a
31	chr5:16180048-16180098	HRPEpiC	eye:	n/a
32	chr5:16180072-16180122	Caco-2	colon:	n/a
33	chr5:16180048-16180098	PFSK-1	brain:	n/a
34	chr5:16180048-16180098	HMEC	breast:	n/a
35	chr5:16180068-16180118	GM19239	blood:	n/a
36	chr5:16180048-16180098	AG09319	gingival:	n/a
37	chr5:16180048-16180098	IMR90	lung:	fetal
38	chr5:16180072-16180122	MCF10A-Er-Src	breast:	n/a
39	chr5:16180055-16180105	HAEpiC	amniotic membrane:	n/a
40	chr5:16180076-16180126	MCF-7	breast:	n/a
41	chr5:16180076-16180126	ovcar-3	ovarian:	n/a
42	chr5:16180048-16180098	K562	blood:	n/a
43	chr5:16180076-16180126	CMK	blood:	n/a
44	chr5:16180062-16180112	ECC-1	luminal epithelium:	n/a
45	chr5:16180072-16180122	HCF	heart:	n/a
46	chr5:16180072-16180122	NB4	blood:	n/a
47	chr5:16180076-16180126	BJ	skin:	n/a
48	chr5:16180068-16180118	Hela-S3	cervix:	n/a
49	chr5:16180055-16180105	MCF10A-Er-Src	breast:	n/a
50	chr5:16180076-16180126	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
ENSG00000250448	TF binding region
MARCH11	TF binding region
ENSG00000250448	CpG island
MARCH11	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830217	chr5:16004704-16225229	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1838286	chr5:16150721-16180167	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1848638	chr5:16150721-16180167	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv597297	chr5:16174133-16180115	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3407056	chr5:16177977-16180525	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3359354	chr5:16178477-16181525	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3498640	chr5:16178577-16181350	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3498642	chr5:16178577-16181350	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv17791	chr5:16179167-16180231	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv597300	chr5:16179194-16180115	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	nsv597301	chr5:16179194-16180167	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	nsv597305	chr5:16179245-16180115	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
13	nsv597306	chr5:16179296-16180115	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16178600-16180200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16178600-16181000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr5:16178800-16180600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:16179000-16180200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:16179000-16180200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:16179000-16180200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:16179000-16180200	Active TSS	Fetal Brain Female	brain
8	chr5:16179000-16180200	Active TSS	Pancreas	Pancrea
9	chr5:16179000-16180200	Active TSS	Right Atrium	heart
10	chr5:16179000-16180400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:16179000-16180400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:16179000-16180400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:16179000-16180400	Weak transcription	Fetal Heart	heart
14	chr5:16179000-16180400	Bivalent Enhancer	Lung	lung
15	chr5:16179200-16180200	Bivalent/Poised TSS	Thymus	Thymus
16	chr5:16179200-16180400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:16179200-16180400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:16179200-16180400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:16179200-16180800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:16179200-16180800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr5:16179400-16180200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:16179400-16180200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:16179400-16180200	Weak transcription	Brain Anterior Caudate	brain
24	chr5:16179400-16180200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:16179400-16180600	Bivalent/Poised TSS	Left Ventricle	heart
26	chr5:16179400-16180800	Active TSS	Right Ventricle	heart
27	chr5:16179600-16180200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:16179800-16180600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:16179800-16180600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:16180000-16180200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:16180000-16180200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
32	chr5:16180000-16180200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:16180000-16180200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:16180000-16180200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:16180000-16180200	Bivalent Enhancer	Spleen	Spleen
36	chr5:16180000-16180400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:16180000-16180400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:16180000-16180400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr5:16180000-16180400	Enhancers	Gastric	stomach
40	chr5:16180000-16180400	Flanking Bivalent TSS/Enh	Ovary	ovary
41	chr5:16180000-16180600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:16180000-16180600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr5:16180000-16180600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr5:16180000-16180600	Bivalent Enhancer	Fetal Stomach	stomach
45	chr5:16180000-16180800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr5:16180000-16180800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:16180000-16180800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:16180000-16181200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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