Variant report

Variant	rs558264473
Chromosome Location	chr14:104315074-104315075
allele	C/T
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	MAX	chr14:104314259-104315319	MCF-7	breast:	n/a	chr14:104314387-104314397
2	MAX	chr14:104313794-104315443	MCF-7	breast:	n/a	chr14:104314387-104314397
3	POLR2A	chr14:104314906-104315170	MCF-7	breast:	n/a	n/a
4	NR2F2	chr14:104313641-104315485	MCF-7	breast:	n/a	n/a
5	ZEB1	chr14:104313842-104315405	HepG2	liver:	n/a	n/a
6	UBTF	chr14:104314835-104315125	K562	blood:	n/a	n/a
7	POLR2A	chr14:104314823-104315248	MCF-7	breast:	n/a	n/a
8	MYC	chr14:104314959-104315120	HepG2	liver:	n/a	n/a
9	ZNF263	chr14:104314022-104315379	HEK293-T-REx	kidney:	n/a	chr14:104315063-104315072
10	NR2F2	chr14:104313546-104315385	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:104315010-104315226	MCF-7	breast:	n/a	n/a
12	UBTF	chr14:104314603-104315098	K562	blood:	n/a	n/a
13	HDAC2	chr14:104314930-104315329	HepG2	liver:	n/a	n/a
14	ELF1	chr14:104313460-104315153	MCF-7	breast:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
15	MAX	chr14:104313517-104315532	HepG2	liver:	n/a	chr14:104314387-104314397
16	MAZ	chr14:104312780-104315206	IMR90	lung:	n/a	chr14:104314387-104314397
17	MAZ	chr14:104313807-104315119	HepG2	liver:	n/a	chr14:104314387-104314397
18	MXI1	chr14:104313573-104315413	HepG2	liver:	n/a	n/a
19	HDAC2	chr14:104313768-104315446	MCF-7	breast:	n/a	chr14:104314434-104314443
20	POLR2A	chr14:104314846-104315240	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
2	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
3	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
4	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R13B	TF binding region
ENSG00000258534	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000156411	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking 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	23 gene(s)	inside rSNPs	diseases
11	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	esv3407760	chr14:104312824-104315372	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv1837236	chr14:104313426-104332759	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv566028	chr14:104314023-104332759	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:104312600-104315200	Active TSS	Ovary	ovary
3	chr14:104312800-104315200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:104312800-104315200	Active TSS	Brain Anterior Caudate	brain
5	chr14:104313000-104315200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:104313000-104315200	Active TSS	Hela-S3	cervix
7	chr14:104313000-104315800	Active TSS	Brain Cingulate Gyrus	brain
8	chr14:104313200-104315200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:104313200-104315200	Active TSS	Brain Angular Gyrus	brain
10	chr14:104313200-104315200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr14:104313200-104315400	Active TSS	Rectal Smooth Muscle	rectum
12	chr14:104313600-104315200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:104314000-104315200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:104314000-104315400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:104314000-104315600	Enhancers	Fetal Lung	lung
16	chr14:104314200-104315200	Flanking Active TSS	Right Ventricle	heart
17	chr14:104314200-104315400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr14:104314400-104315200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:104314400-104315200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:104314400-104315200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr14:104314400-104315200	Flanking Active TSS	Colonic Mucosa	Colon
22	chr14:104314400-104315200	Flanking Active TSS	Placenta	Placenta
23	chr14:104314400-104315200	Flanking Active TSS	Gastric	stomach
24	chr14:104314400-104315200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr14:104314400-104315400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr14:104314400-104315800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr14:104314600-104315200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr14:104314600-104315200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:104314600-104315200	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr14:104314600-104315200	Flanking Active TSS	NHEK	skin
31	chr14:104314600-104315400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr14:104314600-104315400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr14:104314600-104316200	Enhancers	Fetal Heart	heart
34	chr14:104314800-104315200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:104314800-104315200	Enhancers	Primary B cells from peripheral blood	blood
36	chr14:104314800-104315200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:104314800-104315200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr14:104314800-104315200	Flanking Active TSS	Esophagus	oesophagus
39	chr14:104314800-104315400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:104314800-104315400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:104314800-104315400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:104314800-104315400	Enhancers	Liver	Liver
43	chr14:104314800-104316200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr14:104314800-104320200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:104315000-104315200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr14:104315000-104315200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr14:104315000-104315200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr14:104315000-104315200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr14:104315000-104315200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:104315000-104315200	Enhancers	Primary T cells fromperipheralblood	blood

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