Variant report

Variant	rs4982411
Chromosome Location	chr14:21575963-21575964
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	MAZ	chr14:21574877-21576001	K562	blood:	n/a	n/a
2	NR2F2	chr14:21575472-21576075	K562	blood:	n/a	n/a
3	CTCF	chr14:21573742-21575975	A549	lung:	n/a	chr14:21575181-21575202 chr14:21575186-21575204 chr14:21575188-21575201
4	RCOR1	chr14:21575047-21575973	K562	blood:	n/a	n/a
5	EP300	chr14:21575568-21576010	K562	blood:	n/a	n/a
6	MAZ	chr14:21575034-21575977	Hela-S3	cervix:	n/a	n/a
7	ARID3A	chr14:21575579-21576046	K562	blood:	n/a	n/a
8	NFIC	chr14:21574917-21576032	ECC-1	luminal epithelium:	n/a	n/a
9	ZKSCAN1	chr14:21575115-21576196	Hela-S3	cervix:	n/a	n/a
10	MAFF	chr14:21575618-21575965	K562	blood:	n/a	n/a
11	TAL1	chr14:21575646-21576027	K562	blood:	n/a	n/a
12	FOS	chr14:21575590-21576014	MCF10A-Er-Src	breast:	n/a	chr14:21575770-21575780 chr14:21575770-21575780 chr14:21575771-21575779 chr14:21575770-21575780 chr14:21575886-21575896 chr14:21575770-21575780
13	REST	chr14:21575589-21575965	K562	blood:	n/a	n/a
14	TEAD4	chr14:21575440-21575981	K562	blood:	n/a	n/a
15	STAT1	chr14:21574504-21576101	Hela-S3	cervix:	n/a	chr14:21575783-21575794 chr14:21575914-21575922
16	ZNF384	chr14:21575658-21576215	K562	blood:	n/a	n/a
17	TEAD4	chr14:21575632-21575986	K562	blood:	n/a	n/a
18	MAFK	chr14:21575601-21575985	K562	blood:	n/a	n/a
19	FOSL1	chr14:21575619-21575976	K562	blood:	n/a	chr14:21575770-21575780 chr14:21575770-21575780 chr14:21575771-21575779 chr14:21575770-21575780 chr14:21575886-21575896 chr14:21575770-21575780
20	TEAD4	chr14:21575237-21575969	ECC-1	luminal epithelium:	n/a	n/a
21	TEAD4	chr14:21574958-21576016	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr14:21575500-21576029	Hela-S3	cervix:	n/a	n/a
23	MAX	chr14:21574451-21575985	Hela-S3	cervix:	n/a	n/a
24	FOS	chr14:21575589-21576007	MCF10A-Er-Src	breast:	n/a	chr14:21575770-21575780 chr14:21575770-21575780 chr14:21575771-21575779 chr14:21575770-21575780 chr14:21575886-21575896 chr14:21575770-21575780
25	STAT3	chr14:21575615-21575974	Hela-S3	cervix:	n/a	chr14:21575914-21575922
26	FOS	chr14:21575659-21576041	MCF10A-Er-Src	breast:	n/a	chr14:21575770-21575780 chr14:21575770-21575780 chr14:21575771-21575779 chr14:21575770-21575780 chr14:21575886-21575896 chr14:21575770-21575780
27	JUN	chr14:21575603-21576023	K562	blood:	n/a	chr14:21575770-21575780 chr14:21575770-21575780 chr14:21575771-21575779 chr14:21575770-21575780 chr14:21575886-21575896 chr14:21575770-21575780
28	JUND	chr14:21574770-21576181	K562	blood:	n/a	chr14:21575770-21575780 chr14:21575770-21575780 chr14:21575771-21575779 chr14:21575770-21575780 chr14:21575886-21575896 chr14:21575770-21575780 chr14:21574902-21574911
29	RFX5	chr14:21574507-21576074	Hela-S3	cervix:	n/a	chr14:21574818-21574826

No.	Distal block	Cell Line	Cell type
1	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
2	chr14:21560181..21561638-chr14:21574686..21576156,8	MCF-7	breast:
3	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
4	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
5	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
6	chr14:21493281..21494794-chr14:21575076..21576806,2	K562	blood:
7	chr14:21535951..21540860-chr14:21573309..21578466,6	K562	blood:

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

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10146334	1.00[CHD][hapmap]
rs11621987	1.00[CHD][hapmap]
rs2274682	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs28645145	1.00[ASN][1000 genomes]
rs4982409	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	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv524093	chr14:21574690-21652897	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4982411	ABHD4	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21572800-21576400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:21573000-21576200	Enhancers	Fetal Muscle Trunk	muscle
3	chr14:21573000-21576400	Enhancers	NHEK	skin
4	chr14:21573200-21576400	Enhancers	Fetal Intestine Large	intestine
5	chr14:21573200-21576400	Enhancers	HMEC	breast
6	chr14:21573200-21576800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:21573400-21576200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:21573400-21576400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr14:21574200-21576400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:21574600-21576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:21574600-21576000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:21574600-21576000	Enhancers	GM12878-XiMat	blood
13	chr14:21574600-21576400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:21574600-21576400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:21574600-21576400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:21574800-21577800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:21575000-21576000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:21575000-21576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:21575200-21576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:21575200-21576200	Enhancers	NH-A	brain
21	chr14:21575200-21576400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:21575200-21576400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:21575200-21577200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:21575200-21577600	Weak transcription	Fetal Kidney	kidney
25	chr14:21575400-21576200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:21575400-21576400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:21575400-21576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:21575400-21578200	Weak transcription	Dnd41	blood
29	chr14:21575600-21576400	Enhancers	K562	blood
30	chr14:21575600-21576400	Enhancers	Osteobl	bone
31	chr14:21575600-21576600	Enhancers	A549	lung
32	chr14:21575600-21577200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:21575600-21577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:21575800-21576000	Enhancers	Hela-S3	cervix
35	chr14:21575800-21577000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:21575800-21577400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:21575800-21578000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:21575800-21578200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:21575800-21579200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:21575800-21579400	Enhancers	HepG2	liver

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