Variant report

Variant	rs8020942
Chromosome Location	chr14:70345713-70345714
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	CHD2	chr14:70345685-70346986	Hela-S3	cervix:	n/a	chr14:70346082-70346092
2	HEY1	chr14:70345685-70346414	HepG2	liver:	n/a	chr14:70346340-70346355 chr14:70346083-70346098
3	SMARCB1	chr14:70345645-70347186	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr14:70345673-70346574	HepG2	liver:	n/a	n/a
5	CREB1	chr14:70345696-70346693	HepG2	liver:	n/a	n/a
6	ZNF263	chr14:70345704-70347835	HEK293-T-REx	kidney:	n/a	chr14:70346566-70346575 chr14:70346563-70346572
7	POLR2A	chr14:70345632-70348797	MCF10A-Er-Src	breast:	n/a	n/a
8	REST	chr14:70345363-70346657	H1-neurons	neurons:	n/a	chr14:70346283-70346293 chr14:70346276-70346289 chr14:70346269-70346289 chr14:70346269-70346289 chr14:70346269-70346283 chr14:70345868-70345878
9	SMC3	chr14:70345689-70346884	Hela-S3	cervix:	n/a	chr14:70346788-70346798 chr14:70346501-70346511
10	MAZ	chr14:70345707-70347213	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:70345642-70349003	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr14:70345623-70346468	Hela-S3	cervix:	n/a	n/a
13	ZKSCAN1	chr14:70345695-70346477	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr14:70345701-70348367	IMR90	lung:	n/a	chr14:70346082-70346092
15	MAZ	chr14:70345626-70347521	IMR90	lung:	n/a	n/a
16	RCOR1	chr14:70345630-70346348	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:70345712-70347251	Hela-S3	cervix:	n/a	n/a
18	SP2	chr14:70345688-70346313	HepG2	liver:	n/a	chr14:70346044-70346067 chr14:70346008-70346018
19	NFYB	chr14:70345695-70346230	Hela-S3	cervix:	n/a	chr14:70346007-70346021 chr14:70346008-70346023
20	POLR2A	chr14:70345302-70346849	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:70345672-70346336	HepG2	liver:	n/a	n/a
22	MAX	chr14:70345695-70347361	HepG2	liver:	n/a	n/a
23	NFYA	chr14:70345545-70346351	Hela-S3	cervix:	n/a	chr14:70346007-70346021

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70345694..70346612-chr5:32585579..32586219,2	Hela-S3	cervix:

Variant related genes	Relation type
SMOC1	TF binding region
ENSG00000113387	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17558231	1.00[ASN][1000 genomes]
rs17558357	1.00[ASN][1000 genomes]
rs1958078	1.00[ASN][1000 genomes]
rs58657024	1.00[ASN][1000 genomes]
rs61980565	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61980566	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61980570	0.84[AMR][1000 genomes]
rs61980571	0.84[AMR][1000 genomes]
rs61980615	0.84[AMR][1000 genomes]
rs61980616	0.84[AMR][1000 genomes]
rs61980618	0.84[AMR][1000 genomes]
rs61980623	1.00[ASN][1000 genomes]
rs61983523	1.00[ASN][1000 genomes]
rs61983525	1.00[ASN][1000 genomes]
rs73286949	1.00[ASN][1000 genomes]
rs749396	1.00[ASN][1000 genomes]
rs8003374	0.84[AMR][1000 genomes];1.00[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70341400-70346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70342800-70345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:70343800-70345800	Enhancers	Spleen	Spleen
4	chr14:70344000-70345800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:70344000-70345800	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr14:70344000-70346000	Weak transcription	HMEC	breast
7	chr14:70344200-70345800	Bivalent Enhancer	Fetal Stomach	stomach
8	chr14:70344200-70345800	Weak transcription	Right Atrium	heart
9	chr14:70344400-70345800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70344400-70345800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:70344400-70345800	Enhancers	Brain Hippocampus Middle	brain
12	chr14:70344600-70346000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:70344800-70345800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:70344800-70345800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:70344800-70345800	Enhancers	Brain Substantia Nigra	brain
16	chr14:70344800-70345800	Weak transcription	Osteobl	bone
17	chr14:70345000-70345800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:70345400-70345800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:70345400-70345800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:70345400-70346000	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr14:70345400-70346000	Bivalent Enhancer	Placenta	Placenta
22	chr14:70345400-70346000	Flanking Active TSS	Hela-S3	cervix
23	chr14:70345400-70346600	Enhancers	Fetal Brain Male	brain
24	chr14:70345600-70345800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70345600-70345800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:70345600-70345800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr14:70345600-70345800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr14:70345600-70345800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr14:70345600-70345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:70345600-70345800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:70345600-70345800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:70345600-70345800	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr14:70345600-70345800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr14:70345600-70345800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr14:70345600-70346000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr14:70345600-70346000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:70345600-70346000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:70345600-70346000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:70345600-70346000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:70345600-70346000	Flanking Active TSS	Liver	Liver
41	chr14:70345600-70346000	Flanking Active TSS	Fetal Brain Female	brain
42	chr14:70345600-70346000	Enhancers	Pancreas	Pancrea
43	chr14:70345600-70346000	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr14:70345600-70346000	Flanking Bivalent TSS/Enh	NHEK	skin
45	chr14:70345600-70346200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:70345600-70346200	Active TSS	A549	lung
47	chr14:70345600-70346400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
48	chr14:70345600-70346400	Active TSS	Brain Angular Gyrus	brain
49	chr14:70345600-70346800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr14:70345600-70347000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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