Variant report

Variant	rs4982410
Chromosome Location	chr14:21575607-21575608
allele	A/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	TEAD4	chr14:21574408-21575674	HepG2	liver:	n/a	n/a
2	MAZ	chr14:21574877-21576001	K562	blood:	n/a	n/a
3	TCF7L2	chr14:21574587-21575927	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr14:21575059-21575906	K562	blood:	n/a	n/a
5	POLR2A	chr14:21575596-21575942	Hela-S3	cervix:	n/a	n/a
6	NR2F2	chr14:21575472-21576075	K562	blood:	n/a	n/a
7	CTCF	chr14:21575540-21575690	HCT-116	colon:	n/a	n/a
8	CTCF	chr14:21573742-21575975	A549	lung:	n/a	chr14:21575181-21575202 chr14:21575186-21575204 chr14:21575188-21575201
9	CHD2	chr14:21575091-21575910	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr14:21575047-21575973	K562	blood:	n/a	n/a
11	CTCF	chr14:21574760-21575692	HCT-116	colon:	n/a	chr14:21575181-21575202 chr14:21575186-21575204 chr14:21575188-21575201
12	EP300	chr14:21575568-21576010	K562	blood:	n/a	n/a
13	MAZ	chr14:21575034-21575977	Hela-S3	cervix:	n/a	n/a
14	ARID3A	chr14:21575579-21576046	K562	blood:	n/a	n/a
15	TFAP2A	chr14:21575020-21575862	Hela-S3	cervix:	n/a	chr14:21575334-21575346 chr14:21575331-21575346 chr14:21575334-21575346 chr14:21575334-21575346
16	NFIC	chr14:21574917-21576032	ECC-1	luminal epithelium:	n/a	n/a
17	ZKSCAN1	chr14:21575115-21576196	Hela-S3	cervix:	n/a	n/a
18	MYC	chr14:21575143-21575758	K562	blood:	n/a	n/a
19	CTCF	chr14:21574418-21575881	SK-N-SH	brain:	n/a	chr14:21575181-21575202 chr14:21575186-21575204 chr14:21575188-21575201
20	KAP1	chr14:21574882-21575613	U2OS	brain:	n/a	n/a
21	ELK1	chr14:21575530-21575609	K562	blood:	n/a	n/a
22	NFIC	chr14:21574933-21575854	ECC-1	luminal epithelium:	n/a	n/a
23	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
24	CTCF	chr14:21575520-21575670	GM12871	blood:	n/a	n/a
25	REST	chr14:21575589-21575965	K562	blood:	n/a	n/a
26	TEAD4	chr14:21575440-21575981	K562	blood:	n/a	n/a
27	CEBPB	chr14:21574315-21575920	Hela-S3	cervix:	n/a	chr14:21574730-21574747
28	BHLHE40	chr14:21575596-21575913	K562	blood:	n/a	n/a
29	STAT1	chr14:21574504-21576101	Hela-S3	cervix:	n/a	chr14:21575783-21575794 chr14:21575914-21575922
30	POLR2A	chr14:21575563-21575894	K562	blood:	n/a	n/a
31	SMC3	chr14:21574416-21575962	Hela-S3	cervix:	n/a	chr14:21575188-21575202 chr14:21575390-21575400 chr14:21575404-21575414 chr14:21575178-21575192 chr14:21575407-21575415
32	POLR2A	chr14:21574951-21575692	H1-hESC	embryonic stem cell:	n/a	n/a
33	SMARCC1	chr14:21574344-21575888	Hela-S3	cervix:	n/a	chr14:21575771-21575780
34	USF2	chr14:21575058-21575861	Hela-S3	cervix:	n/a	n/a
35	CUX1	chr14:21575581-21575955	K562	blood:	n/a	n/a
36	GTF2F1	chr14:21574485-21575961	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr14:21575255-21575918	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr14:21575460-21575610	SAEC	small airway:	n/a	n/a
39	MAFK	chr14:21575601-21575985	K562	blood:	n/a	n/a
40	RAD21	chr14:21574994-21575949	Hela-S3	cervix:	n/a	chr14:21575190-21575199 chr14:21575335-21575348 chr14:21575188-21575202 chr14:21575187-21575200 chr14:21575184-21575203
41	MAFK	chr14:21574501-21575829	Hela-S3	cervix:	n/a	chr14:21574898-21574915
42	TEAD4	chr14:21575237-21575969	ECC-1	luminal epithelium:	n/a	n/a
43	ELK4	chr14:21575250-21575731	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr14:21574979-21575916	Hela-S3	cervix:	n/a	n/a
45	TEAD4	chr14:21574958-21576016	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr14:21575500-21576029	Hela-S3	cervix:	n/a	n/a
47	YY1	chr14:21575036-21575623	ECC-1	luminal epithelium:	n/a	chr14:21575142-21575161 chr14:21575186-21575198 chr14:21575137-21575159 chr14:21575148-21575156 chr14:21575147-21575159
48	POLR2A	chr14:21575147-21575923	Hela-S3	cervix:	n/a	n/a
49	MAX	chr14:21574451-21575985	Hela-S3	cervix:	n/a	n/a
50	STAT3	chr14:21575605-21575937	MCF10A-Er-Src	breast:	n/a	chr14:21575914-21575922

No.	Distal block	Cell Line	Cell type
1	chr14:21534776..21535846-chr14:21574745..21575671,6	MCF-7	breast:
2	chr14:21560568..21561459-chr14:21574744..21575636,5	MCF-7	breast:
3	chr14:21482752..21484082-chr14:21574253..21575653,5	MCF-7	breast:
4	chr14:21560382..21561252-chr14:21574427..21575723,4	K562	blood:
5	chr14:21536374..21537276-chr14:21574658..21575637,5	MCF-7	breast:
6	chr14:21482544..21483098-chr14:21574679..21575685,3	K562	blood:
7	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
8	chr14:21560181..21561638-chr14:21574686..21576156,8	MCF-7	breast:
9	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
10	chr14:21536133..21537237-chr14:21574809..21575770,3	MCF-7	breast:
11	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
12	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
13	chr14:21493281..21494794-chr14:21575076..21576806,2	K562	blood:
14	chr14:21536288..21537150-chr14:21574736..21575754,4	K562	blood:
15	chr14:21535951..21540860-chr14:21573309..21578466,6	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12887490	0.85[ASN][1000 genomes]
rs4982408	0.83[CHB][hapmap]
rs61450523	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151225	0.85[ASN][1000 genomes]
rs745696	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21572800-21576400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:21573000-21575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:21573000-21575800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:21573000-21576200	Enhancers	Fetal Muscle Trunk	muscle
5	chr14:21573000-21576400	Enhancers	NHEK	skin
6	chr14:21573200-21575800	Enhancers	Fetal Intestine Small	intestine
7	chr14:21573200-21576400	Enhancers	Fetal Intestine Large	intestine
8	chr14:21573200-21576400	Enhancers	HMEC	breast
9	chr14:21573200-21576800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:21573400-21576200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:21573400-21576400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:21574200-21575800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:21574200-21575800	Enhancers	Fetal Muscle Leg	muscle
14	chr14:21574200-21575800	Flanking Active TSS	HepG2	liver
15	chr14:21574200-21576400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:21574400-21575800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:21574400-21575800	Enhancers	Pancreas	Pancrea
18	chr14:21574400-21575800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr14:21574400-21575800	Flanking Active TSS	Hela-S3	cervix
20	chr14:21574400-21575800	Enhancers	HSMM	muscle
21	chr14:21574600-21575800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:21574600-21575800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:21574600-21575800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:21574600-21575800	Enhancers	Fetal Heart	heart
25	chr14:21574600-21575800	Enhancers	Fetal Thymus	thymus
26	chr14:21574600-21575800	Enhancers	Left Ventricle	heart
27	chr14:21574600-21575800	Enhancers	Lung	lung
28	chr14:21574600-21575800	Enhancers	NHLF	lung
29	chr14:21574600-21576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:21574600-21576000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:21574600-21576000	Enhancers	GM12878-XiMat	blood
32	chr14:21574600-21576400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:21574600-21576400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:21574600-21576400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:21574800-21575800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:21574800-21575800	Enhancers	Stomach Mucosa	stomach
37	chr14:21574800-21577800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:21575000-21576000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:21575000-21576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:21575200-21575800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:21575200-21575800	Enhancers	Adipose Nuclei	Adipose
42	chr14:21575200-21575800	Enhancers	Liver	Liver
43	chr14:21575200-21575800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr14:21575200-21575800	Enhancers	NHDF-Ad	bronchial
45	chr14:21575200-21576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr14:21575200-21576200	Enhancers	NH-A	brain
47	chr14:21575200-21576400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:21575200-21576400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:21575200-21577200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:21575200-21577600	Weak transcription	Fetal Kidney	kidney

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