Variant report

Variant	rs74060216
Chromosome Location	chr14:70078019-70078020
allele	G/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	ZNF143	chr14:70077942-70078086	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr14:70077577-70078189	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:70077893-70079405	GM19193	blood:	n/a	n/a
4	EP300	chr14:70077951-70078264	K562	blood:	n/a	n/a
5	HA-E2F1	chr14:70077848-70079443	MCF-7	breast:	n/a	chr14:70078246-70078253 chr14:70078246-70078253 chr14:70078241-70078256 chr14:70078246-70078253 chr14:70078389-70078401 chr14:70078245-70078257 chr14:70077929-70077936 chr14:70079335-70079352 chr14:70078801-70078811
6	MAZ	chr14:70077857-70079765	Hela-S3	cervix:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
7	RCOR1	chr14:70077775-70078053	K562	blood:	n/a	n/a
8	USF2	chr14:70077848-70078121	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:70077896-70078914	HUVEC	blood vessel:	n/a	n/a
10	MXI1	chr14:70076983-70080833	IMR90	lung:	n/a	chr14:70077063-70077078
11	RAD21	chr14:70077949-70078214	IMR90	lung:	n/a	n/a
12	FOXP2	chr14:70078006-70078654	PFSK-1	brain:	n/a	n/a
13	MXI1	chr14:70077937-70079009	HepG2	liver:	n/a	n/a
14	REST	chr14:70076933-70079378	H1-neurons	neurons:	n/a	chr14:70078837-70078850 chr14:70079296-70079309 chr14:70078771-70078789 chr14:70078864-70078877 chr14:70078774-70078787 chr14:70078867-70078880
15	SIN3A	chr14:70077858-70078919	GM12878	blood:	n/a	chr14:70078867-70078880 chr14:70078319-70078328 chr14:70078780-70078791
16	MAX	chr14:70077801-70079822	GM12878	blood:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
17	MYC	chr14:70077559-70078785	A549	lung:	n/a	n/a
18	POLR2A	chr14:70077853-70078197	HCT-116	colon:	n/a	n/a
19	MAX	chr14:70077792-70079174	K562	blood:	n/a	chr14:70078788-70078798
20	WRNIP1	chr14:70077877-70078160	GM12878	blood:	n/a	n/a
21	RCOR1	chr14:70077078-70078894	K562	blood:	n/a	n/a
22	SP1	chr14:70077904-70078393	GM12878	blood:	n/a	chr14:70078236-70078250 chr14:70078241-70078248 chr14:70078373-70078387
23	EP300	chr14:70077908-70078359	GM12878	blood:	n/a	n/a
24	BHLHE40	chr14:70077931-70078480	K562	blood:	n/a	chr14:70078318-70078334 chr14:70078414-70078430
25	PAX5	chr14:70078016-70078591	GM12892	blood:	n/a	chr14:70078476-70078485
26	MAX	chr14:70077854-70079854	NB4	blood:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
27	MYC	chr14:70077857-70078613	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr14:70078003-70079019	MCF-7	breast:	n/a	n/a
29	SIN3A	chr14:70077669-70079798	H1-hESC	embryonic stem cell:	n/a	chr14:70078867-70078880 chr14:70078319-70078328 chr14:70078780-70078791
30	SP1	chr14:70077888-70078244	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:70077913-70078633	K562	blood:	n/a	n/a
32	MAX	chr14:70077652-70078721	H1-hESC	embryonic stem cell:	n/a	n/a
33	EBF1	chr14:70077830-70078363	GM12878	blood:	n/a	chr14:70078136-70078146 chr14:70078137-70078146
34	HDAC2	chr14:70077943-70079098	MCF-7	breast:	n/a	n/a
35	POLR2A	chr14:70077874-70078581	HCT-116	colon:	n/a	n/a
36	POLR2A	chr14:70077972-70078543	Hela-S3	cervix:	n/a	n/a
37	YY1	chr14:70077968-70078249	GM12878	blood:	n/a	n/a
38	EBF1	chr14:70077903-70078308	GM12878	blood:	n/a	chr14:70078136-70078146 chr14:70078137-70078146
39	ELF1	chr14:70077913-70079496	MCF-7	breast:	n/a	chr14:70078874-70078887 chr14:70078657-70078669
40	TAF1	chr14:70078015-70078693	HepG2	liver:	n/a	n/a
41	MAX	chr14:70077742-70078564	MCF-7	breast:	n/a	n/a
42	MXI1	chr14:70077918-70079915	Hela-S3	cervix:	n/a	n/a
43	TCF3	chr14:70077960-70078939	GM12878	blood:	n/a	n/a
44	KAP1	chr14:70077187-70078140	HEK293	kidney:	n/a	n/a
45	RFX5	chr14:70077757-70078522	Hela-S3	cervix:	n/a	chr14:70077912-70077928
46	SP1	chr14:70077832-70078510	A549	lung:	n/a	chr14:70078383-70078397 chr14:70078236-70078250 chr14:70078241-70078248 chr14:70078373-70078387
47	POLR2A	chr14:70077965-70078216	A549	lung:	n/a	n/a
48	POLR2A	chr14:70077995-70078222	A549	lung:	n/a	n/a
49	POLR2A	chr14:70078018-70079063	MCF-7	breast:	n/a	n/a
50	MAX	chr14:70077603-70078678	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70076728..70078237-chr14:70177828..70179629,2	MCF-7	breast:
2	chr14:70075993..70078165-chr14:70168395..70170224,2	K562	blood:
3	chr14:70077972..70078597-chr14:70233346..70233919,2	HCT-116	colon:
4	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
5	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
6	chr14:70075878..70078294-chr14:70112470..70114213,2	K562	blood:
7	chr14:70075993..70078093-chr14:70168395..70170520,2	K562	blood:
8	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0247	TF binding region
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17107167	0.84[AFR][1000 genomes]
rs58291537	0.92[AFR][1000 genomes]
rs58658815	0.84[AFR][1000 genomes]
rs60146581	0.92[AFR][1000 genomes]
rs61606958	1.00[AFR][1000 genomes]
rs74060217	0.92[AFR][1000 genomes]
rs74060224	0.92[AFR][1000 genomes]
rs74060230	0.92[AFR][1000 genomes]
rs74060254	0.84[AFR][1000 genomes]
rs74060255	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3388575	chr14:70077224-70080072	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70076800-70079200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:70077000-70078200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:70077000-70078200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr14:70077000-70078400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr14:70077200-70078200	Flanking Active TSS	HMEC	breast
6	chr14:70077200-70079200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:70077400-70078200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr14:70077400-70078200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr14:70077400-70078200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:70077400-70078200	Flanking Active TSS	Placenta	Placenta
11	chr14:70077400-70079600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:70077400-70079600	Active TSS	HSMMtube	muscle
13	chr14:70077400-70079800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:70077400-70080200	Active TSS	Psoas Muscle	Psoas
15	chr14:70077600-70078400	Weak transcription	Spleen	Spleen
16	chr14:70077600-70078600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:70077600-70079000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:70077600-70079000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr14:70077600-70079000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:70077600-70079200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:70077600-70079200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:70077600-70079200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:70077600-70079200	Active TSS	Brain Anterior Caudate	brain
24	chr14:70077600-70079200	Active TSS	Pancreas	Pancrea
25	chr14:70077600-70079400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:70077600-70079400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:70077600-70079400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:70077600-70079400	Active TSS	HSMM	muscle
29	chr14:70077600-70079400	Active TSS	K562	blood
30	chr14:70077600-70079600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr14:70077600-70079600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:70077600-70079600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr14:70077600-70079600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:70077600-70079800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:70077600-70079800	Active TSS	Ovary	ovary
36	chr14:70077600-70080000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:70077600-70080000	Active TSS	NHLF	lung
38	chr14:70077600-70080200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr14:70077600-70080200	Active TSS	Aorta	Aorta
40	chr14:70077600-70080200	Active TSS	Left Ventricle	heart
41	chr14:70077600-70081000	Active TSS	Esophagus	oesophagus
42	chr14:70077800-70078200	Active TSS	Fetal Brain Male	brain
43	chr14:70077800-70078400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:70077800-70078400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:70077800-70078800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:70077800-70079000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:70077800-70079000	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:70077800-70079000	Active TSS	Hela-S3	cervix
49	chr14:70077800-70079200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr14:70077800-70079200	Active TSS	Primary T cells from cord blood	blood

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