Variant report

Variant	rs554388253
Chromosome Location	chr5:16179711-16179712
allele	C/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	MXI1	chr5:16177252-16182613	SK-N-SH	brain:	n/a	n/a
2	REST	chr5:16178556-16179809	PFSK-1	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
3	POLR2A	chr5:16179604-16179767	SK-N-SH	brain:	n/a	n/a
4	REST	chr5:16178510-16179799	ECC-1	luminal epithelium:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
5	REST	chr5:16178706-16179814	MCF-7	breast:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
6	POLR2A	chr5:16178782-16180642	H1-neurons	neurons:	n/a	n/a
7	REST	chr5:16178657-16179827	PFSK-1	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
8	RAD21	chr5:16179598-16179995	SK-N-SH_RA	brain:	n/a	chr5:16179696-16179708 chr5:16179853-16179867
9	POLR2A	chr5:16178807-16180090	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16177598..16179739-chr5:16465554..16467569,2	MCF-7	breast:

Variant related genes	Relation type
MARCH11	TF binding region
ENSG00000250448	TF binding region
ENSG00000173545	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv597298	chr5:16179194-16179867	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	nsv597299	chr5:16179194-16180059	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	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
13	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
14	nsv597302	chr5:16179245-16179816	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
15	nsv597303	chr5:16179245-16179867	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
16	nsv597304	chr5:16179245-16180059	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
17	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
18	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
19	nsv597307	chr5:16179402-16179973	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 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	chr5:16178800-16179800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:16178800-16180600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:16179000-16179800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:16179000-16179800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:16179000-16179800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:16179000-16180000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr5:16179000-16180000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:16179000-16180000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:16179000-16180000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:16179000-16180000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:16179000-16180000	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr5:16179000-16180200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:16179000-16180200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:16179000-16180200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:16179000-16180200	Active TSS	Fetal Brain Female	brain
18	chr5:16179000-16180200	Active TSS	Pancreas	Pancrea
19	chr5:16179000-16180200	Active TSS	Right Atrium	heart
20	chr5:16179000-16180400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:16179000-16180400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:16179000-16180400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:16179000-16180400	Weak transcription	Fetal Heart	heart
24	chr5:16179000-16180400	Bivalent Enhancer	Lung	lung
25	chr5:16179200-16180200	Bivalent/Poised TSS	Thymus	Thymus
26	chr5:16179200-16180400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:16179200-16180400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:16179200-16180400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:16179200-16180800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:16179200-16180800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:16179400-16180000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:16179400-16180000	Bivalent/Poised TSS	Ovary	ovary
33	chr5:16179400-16180200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:16179400-16180200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:16179400-16180200	Weak transcription	Brain Anterior Caudate	brain
36	chr5:16179400-16180200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:16179400-16180600	Bivalent/Poised TSS	Left Ventricle	heart
38	chr5:16179400-16180800	Active TSS	Right Ventricle	heart
39	chr5:16179600-16179800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:16179600-16180000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:16179600-16180000	Weak transcription	Gastric	stomach
42	chr5:16179600-16180200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland

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