Variant report

Variant	rs1978416
Chromosome Location	chr14:78227901-78227902
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	TBL1XR1	chr14:78227065-78228185	GM12878	blood:	n/a	n/a
2	REST	chr14:78226479-78228189	H1-neurons	neurons:	n/a	chr14:78227159-78227166 chr14:78227167-78227177 chr14:78227159-78227168 chr14:78227828-78227837
3	POLR2A	chr14:78226828-78228281	Hela-S3	cervix:	n/a	n/a
4	IRF1	chr14:78227121-78228200	K562	blood:	n/a	n/a
5	ZC3H11A	chr14:78227288-78228178	K562	blood:	n/a	n/a
6	CEBPB	chr14:78226980-78228290	H1-hESC	embryonic stem cell:	n/a	chr14:78227984-78227995 chr14:78227986-78227995 chr14:78227986-78227995
7	POLR2A	chr14:78227189-78227914	SK-N-MC	brain:	n/a	n/a
8	TCF12	chr14:78226576-78228335	A549	lung:	n/a	n/a
9	CEBPB	chr14:78227799-78228182	HepG2	liver:	n/a	chr14:78227984-78227995 chr14:78227986-78227995 chr14:78227986-78227995
10	EP300	chr14:78226849-78228325	K562	blood:	n/a	chr14:78227307-78227323
11	TBP	chr14:78227064-78228338	Hela-S3	cervix:	n/a	n/a
12	RELA	chr14:78226808-78228163	GM19099	blood:	n/a	n/a
13	GATA1	chr14:78226548-78228341	PBDE	blood:	n/a	chr14:78226691-78226701
14	GABPA	chr14:78226634-78227910	SK-N-SH	brain:	n/a	chr14:78227557-78227571 chr14:78227554-78227568 chr14:78227475-78227482 chr14:78227557-78227568 chr14:78227557-78227566
15	CEBPB	chr14:78227804-78228194	ECC-1	luminal epithelium:	n/a	chr14:78227984-78227995 chr14:78227986-78227995 chr14:78227986-78227995
16	SIX5	chr14:78227225-78228002	GM12878	blood:	n/a	chr14:78227588-78227597 chr14:78227590-78227599
17	CEBPB	chr14:78227302-78228370	Hela-S3	cervix:	n/a	chr14:78227984-78227995 chr14:78227986-78227995 chr14:78227986-78227995
18	CEBPB	chr14:78227419-78228234	A549	lung:	n/a	chr14:78227984-78227995 chr14:78227986-78227995 chr14:78227986-78227995
19	POLR2A	chr14:78226850-78228186	K562	blood:	n/a	n/a
20	KAP1	chr14:78227031-78228281	U2OS	brain:	n/a	n/a
21	BRCA1	chr14:78226948-78228257	Hela-S3	cervix:	n/a	n/a
22	HCFC1	chr14:78227011-78228325	K562	blood:	n/a	n/a
23	GTF3C2	chr14:78227578-78228230	Hela-S3	cervix:	n/a	n/a
24	MYC	chr14:78226902-78228302	K562	blood:	n/a	chr14:78227340-78227349
25	RAD21	chr14:78226703-78228308	IMR90	lung:	n/a	n/a
26	MXI1	chr14:78226827-78228241	Hela-S3	cervix:	n/a	chr14:78226834-78226849
27	NRF1	chr14:78226881-78228170	H1-hESC	embryonic stem cell:	n/a	chr14:78227557-78227571 chr14:78227554-78227568 chr14:78227556-78227567 chr14:78227475-78227482 chr14:78227557-78227568 chr14:78227557-78227566
28	RCOR1	chr14:78226504-78228299	K562	blood:	n/a	n/a
29	POLR2A	chr14:78226431-78228211	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr14:78227529-78228237	K562	blood:	n/a	chr14:78227984-78227995 chr14:78227986-78227995 chr14:78227986-78227995
31	CTCF	chr14:78226258-78228556	A549	lung:	n/a	n/a
32	POLR2A	chr14:78226394-78228258	Hela-S3	cervix:	n/a	n/a
33	TBP	chr14:78226845-78228360	H1-hESC	embryonic stem cell:	n/a	n/a
34	NRF1	chr14:78226636-78228384	SK-N-SH	brain:	n/a	chr14:78227557-78227571 chr14:78227554-78227568 chr14:78227556-78227567 chr14:78227475-78227482 chr14:78227557-78227568 chr14:78227557-78227566
35	GATA2	chr14:78226965-78228330	SH-SY5Y	brain:	n/a	n/a
36	MTA3	chr14:78226645-78228030	GM12878	blood:	n/a	n/a
37	CEBPB	chr14:78227772-78228199	ECC-1	luminal epithelium:	n/a	chr14:78227984-78227995 chr14:78227986-78227995 chr14:78227986-78227995
38	PML	chr14:78226685-78228024	GM12878	blood:	n/a	n/a
39	SIN3A	chr14:78226435-78228357	H1-hESC	embryonic stem cell:	n/a	n/a
40	RCOR1	chr14:78226691-78228342	K562	blood:	n/a	n/a
41	CTCF	chr14:78227880-78228030	HCM	heart:	n/a	n/a
42	SIX5	chr14:78227060-78228135	A549	lung:	n/a	chr14:78227588-78227597 chr14:78227590-78227599
43	POLR2A	chr14:78225974-78228288	IMR90	lung:	n/a	n/a
44	E2F4	chr14:78226701-78228148	MCF10A-Er-Src	breast:	n/a	chr14:78227959-78227967 chr14:78226958-78226967 chr14:78227959-78227967 chr14:78227960-78227967 chr14:78227558-78227567
45	POLR2A	chr14:78226503-78227910	GM12878	blood:	n/a	n/a
46	NR2F2	chr14:78227191-78228083	K562	blood:	n/a	n/a
47	RAD21	chr14:78227372-78228390	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:78226289-78228060	MCF10A-Er-Src	breast:	n/a	n/a
49	GABPA	chr14:78226462-78228237	MCF-7	breast:	n/a	chr14:78227557-78227571 chr14:78227554-78227568 chr14:78227475-78227482 chr14:78227557-78227568 chr14:78227557-78227566
50	POLR2A	chr14:78226515-78228022	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:78173879..78175943-chr14:78227117..78229069,2	K562	blood:
2	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
3	chr14:78173969..78175847-chr14:78226797..78229509,2	MCF-7	breast:
4	chr11:82897423..82898111-chr14:78227198..78227933,2	Hela-S3	cervix:
5	chr14:78225549..78228360-chr14:78265163..78268062,4	K562	blood:
6	chr14:78227205..78229069-chr14:78264195..78266638,2	MCF-7	breast:

Variant related genes	Relation type
SNW1	TF binding region
ENSG00000269939	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000063761	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1006038	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1006039	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1006040	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1008988	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136053	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10142722	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10148373	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10149619	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1048147	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11159288	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622565	0.82[ASN][1000 genomes]
rs11623088	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11624101	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11628888	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11847025	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12435761	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12883228	0.85[ASN][1000 genomes]
rs12887282	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12887606	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890375	0.90[ASN][1000 genomes]
rs12890728	0.85[ASN][1000 genomes]
rs13379065	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1469018	0.88[ASN][1000 genomes]
rs1477259	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1477260	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1477261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477262	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549119	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17106157	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176943	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176944	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176946	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176951	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176952	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176953	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176955	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176957	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs176960	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176962	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176966	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs176971	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176973	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176979	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176980	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1984925	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2032781	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112136	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267758	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267759	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267760	0.85[ASN][1000 genomes]
rs2267761	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267767	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267768	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299930	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2364584	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2364840	0.85[ASN][1000 genomes]
rs2544567	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28534379	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28603114	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35204328	0.86[ASN][1000 genomes]
rs3759728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783980	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783983	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4383070	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4632066	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4635269	0.81[ASN][1000 genomes]
rs4903643	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55909252	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56017708	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56412551	0.85[ASN][1000 genomes]
rs57635466	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61993668	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6574388	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6574391	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574402	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574404	0.85[ASN][1000 genomes]
rs7142390	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147516	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7151211	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7158826	0.82[ASN][1000 genomes]
rs717683	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72685264	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs759808	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003691	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003979	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011337	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8014635	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016175	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018741	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018971	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78225600-78228600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:78226000-78228000	Active TSS	GM12878-XiMat	blood
3	chr14:78226200-78228000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:78226200-78228000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:78226200-78228200	Active TSS	Right Ventricle	heart
6	chr14:78226200-78228200	Active TSS	A549	lung
7	chr14:78226200-78228200	Active TSS	K562	blood
8	chr14:78226200-78228400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:78226200-78228400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:78226200-78228400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:78226200-78228400	Active TSS	NHDF-Ad	bronchial
12	chr14:78226400-78228000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:78226400-78228000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr14:78226400-78228000	Active TSS	Aorta	Aorta
15	chr14:78226400-78228000	Active TSS	Fetal Intestine Small	intestine
16	chr14:78226400-78228000	Active TSS	Stomach Mucosa	stomach
17	chr14:78226400-78228200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:78226400-78228200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr14:78226400-78228200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:78226400-78228200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:78226400-78228200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:78226400-78228200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:78226400-78228200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:78226400-78228200	Active TSS	Fetal Muscle Trunk	muscle
25	chr14:78226400-78228200	Active TSS	Ovary	ovary
26	chr14:78226400-78228200	Active TSS	Psoas Muscle	Psoas
27	chr14:78226400-78228400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr14:78226400-78228400	Active TSS	Right Atrium	heart
29	chr14:78226600-78228000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:78226600-78228000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:78226600-78228000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:78226600-78228000	Active TSS	Esophagus	oesophagus
33	chr14:78226600-78228000	Active TSS	Fetal Intestine Large	intestine
34	chr14:78226600-78228000	Active TSS	Fetal Kidney	kidney
35	chr14:78226600-78228000	Active TSS	Fetal Lung	lung
36	chr14:78226600-78228000	Active TSS	Gastric	stomach
37	chr14:78226600-78228000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr14:78226600-78228200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:78226600-78228200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:78226600-78228200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:78226600-78228200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:78226600-78228200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:78226600-78228200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:78226600-78228200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr14:78226600-78228200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:78226600-78228200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr14:78226600-78228200	Active TSS	Placenta	Placenta
48	chr14:78226600-78228200	Active TSS	Left Ventricle	heart
49	chr14:78226600-78228200	Active TSS	Pancreas	Pancrea
50	chr14:78226600-78228200	Active TSS	Hela-S3	cervix

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