Variant report

Variant	rs4982409
Chromosome Location	chr14:21573260-21573261
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	MYBL2	chr14:21571143-21573397	HepG2	liver:	n/a	n/a
2	KAP1	chr14:21571610-21573311	HEK293	kidney:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
3	POLR2A	chr14:21571420-21573825	SK-N-MC	brain:	n/a	n/a
4	HEY1	chr14:21571252-21573501	HepG2	liver:	n/a	chr14:21572382-21572397
5	JUN	chr14:21571438-21573305	K562	blood:	n/a	chr14:21572211-21572219 chr14:21572209-21572221 chr14:21573119-21573133
6	RAD21	chr14:21571401-21573397	SK-N-SH	brain:	n/a	chr14:21572595-21572609 chr14:21572588-21572602 chr14:21573063-21573082
7	REST	chr14:21570711-21573298	H1-neurons	neurons:	n/a	chr14:21572162-21572176 chr14:21571886-21571906 chr14:21573007-21573025 chr14:21571887-21571905
8	CTCF	chr14:21571123-21573645	A549	lung:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
9	POLR2A	chr14:21571584-21573289	HCT-116	colon:	n/a	n/a
10	MAX	chr14:21571197-21573276	MCF-7	breast:	n/a	chr14:21572210-21572219
11	CTCF	chr14:21571532-21573262	SK-N-SH	brain:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
12	POLR2A	chr14:21571369-21573338	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:21573209-21573676	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr14:21571490-21573467	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:21571582-21573310	GM19099	blood:	n/a	n/a
16	RFX5	chr14:21573186-21573418	HepG2	liver:	n/a	chr14:21573373-21573388
17	POLR2A	chr14:21570720-21573406	Raji	blood:	n/a	n/a
18	MTA3	chr14:21571210-21573646	GM12878	blood:	n/a	n/a
19	HCFC1	chr14:21571052-21573640	Hela-S3	cervix:	n/a	n/a
20	JUND	chr14:21570997-21573590	SK-N-SH	brain:	n/a	chr14:21572209-21572220 chr14:21572211-21572219 chr14:21572209-21572221 chr14:21573119-21573133
21	CHD1	chr14:21571280-21573273	IMR90	lung:	n/a	n/a
22	POLR2A	chr14:21571576-21573380	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:21571556-21573371	GM12891	blood:	n/a	n/a
24	POLR2A	chr14:21571095-21573571	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr14:21573180-21573330	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21490094..21494864-chr14:21570311..21573560,5	MCF-7	breast:
2	chr14:21560165..21562060-chr14:21571430..21574537,42	MCF-7	breast:
3	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
4	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
5	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
6	chr14:21572213..21574693-chr17:56708000..56709846,2	MCF-7	breast:
7	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178107	TF binding region
ZNF219	TF binding region
ENSG00000165795	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000258604	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28645145	1.00[ASN][1000 genomes]
rs4982411	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61405772	0.82[ASN][1000 genomes]
rs73571904	0.88[ASN][1000 genomes]
rs73571905	0.91[ASN][1000 genomes]
rs73571913	0.94[ASN][1000 genomes]
rs8006832	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21572200-21573400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:21572400-21573400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:21572400-21573400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr14:21572400-21573400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr14:21572400-21575400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr14:21572600-21573400	Flanking Active TSS	Liver	Liver
7	chr14:21572600-21573400	Flanking Active TSS	K562	blood
8	chr14:21572600-21573600	Flanking Active TSS	Hela-S3	cervix
9	chr14:21572600-21574600	Weak transcription	Lung	lung
10	chr14:21572800-21573400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:21572800-21573400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:21572800-21573400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr14:21572800-21573400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:21572800-21573400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr14:21572800-21573400	Flanking Active TSS	Fetal Lung	lung
16	chr14:21572800-21573400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr14:21572800-21573400	Flanking Active TSS	A549	lung
18	chr14:21572800-21573400	Flanking Active TSS	Dnd41	blood
19	chr14:21572800-21573400	Flanking Active TSS	GM12878-XiMat	blood
20	chr14:21572800-21573600	Enhancers	Fetal Heart	heart
21	chr14:21572800-21573600	Enhancers	Fetal Stomach	stomach
22	chr14:21572800-21573600	Enhancers	Right Ventricle	heart
23	chr14:21572800-21573800	Enhancers	Small Intestine	intestine
24	chr14:21572800-21573800	Enhancers	Stomach Mucosa	stomach
25	chr14:21572800-21573800	Enhancers	Spleen	Spleen
26	chr14:21572800-21574600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:21572800-21574600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:21572800-21574600	Weak transcription	Esophagus	oesophagus
29	chr14:21572800-21576400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:21573000-21573400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:21573000-21573400	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:21573000-21573400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr14:21573000-21573400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:21573000-21573400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:21573000-21573400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:21573000-21573400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:21573000-21573400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:21573000-21573400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:21573000-21573400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:21573000-21573400	Enhancers	Colonic Mucosa	Colon
41	chr14:21573000-21573400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:21573000-21573400	Enhancers	Fetal Kidney	kidney
43	chr14:21573000-21573400	Enhancers	Fetal Thymus	thymus
44	chr14:21573000-21573400	Enhancers	HSMM	muscle
45	chr14:21573000-21573600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:21573000-21573600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:21573000-21573600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:21573000-21573600	Enhancers	Brain Substantia Nigra	brain
49	chr14:21573000-21573600	Enhancers	Placenta	Placenta
50	chr14:21573000-21573600	Enhancers	Left Ventricle	heart

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