Variant report

Variant	rs8019852
Chromosome Location	chr14:70883943-70883944
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	TAF1	chr14:70883283-70884012	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr14:70883454-70884004	MCF-7	breast:	n/a	n/a
3	FOXP2	chr14:70883729-70883948	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:70883574-70884003	U87	brain:	n/a	n/a
5	POLR2A	chr14:70883487-70883970	MCF-7	breast:	n/a	n/a
6	MXI1	chr14:70883545-70883954	HepG2	liver:	n/a	n/a
7	IRF1	chr14:70883614-70883955	K562	blood:	n/a	chr14:70883772-70883785 chr14:70883774-70883788 chr14:70883773-70883786 chr14:70883772-70883782 chr14:70883773-70883786 chr14:70883773-70883784 chr14:70883771-70883785 chr14:70883768-70883789 chr14:70883772-70883786 chr14:70883772-70883792 chr14:70883773-70883787 chr14:70883773-70883786 chr14:70883773-70883786 chr14:70883772-70883783
8	GATA2	chr14:70883521-70884420	SH-SY5Y	brain:	n/a	n/a
9	GTF2F1	chr14:70883344-70884000	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:70883431-70883950	ECC-1	luminal epithelium:	n/a	n/a
11	ETS1	chr14:70883375-70884112	A549	lung:	n/a	chr14:70883513-70883526
12	MAX	chr14:70883631-70883975	HepG2	liver:	n/a	n/a
13	TEAD4	chr14:70883619-70884051	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:70883535-70883968	HCT-116	colon:	n/a	n/a
15	E2F6	chr14:70883396-70884129	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:70883315-70883988	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr14:70883585-70884007	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr14:70883436-70884085	SK-N-MC	brain:	n/a	n/a
19	RFX5	chr14:70883598-70884154	Hela-S3	cervix:	n/a	n/a
20	E2F4	chr14:70883585-70883950	MCF10A-Er-Src	breast:	n/a	n/a
21	GABPA	chr14:70882954-70884580	MCF-7	breast:	n/a	n/a
22	MYC	chr14:70883366-70883985	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr14:70883551-70883974	HCT-116	colon:	n/a	n/a
24	POLR2A	chr14:70883241-70884120	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:70883637-70883956	K562	blood:	n/a	n/a
26	ELF1	chr14:70883304-70884167	MCF-7	breast:	n/a	n/a
27	GABPA	chr14:70883422-70884391	SK-N-SH	brain:	n/a	n/a
28	GABPA	chr14:70883526-70884014	H1-hESC	embryonic stem cell:	n/a	n/a
29	NR2C2	chr14:70883556-70884031	HepG2	liver:	n/a	chr14:70883795-70883804
30	ZNF143	chr14:70883480-70884031	H1-hESC	embryonic stem cell:	n/a	chr14:70883834-70883852
31	ELF1	chr14:70883351-70884135	MCF-7	breast:	n/a	n/a
32	NFIC	chr14:70883357-70884180	ECC-1	luminal epithelium:	n/a	n/a
33	CREB1	chr14:70883619-70883957	A549	lung:	n/a	n/a
34	SIX5	chr14:70883565-70884048	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:70883495-70884011	Hela-S3	cervix:	n/a	n/a
36	GTF2F1	chr14:70883630-70884072	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr14:70883414-70884062	HUVEC	blood vessel:	n/a	n/a
38	MAX	chr14:70883471-70884065	ECC-1	luminal epithelium:	n/a	n/a
39	ETS1	chr14:70883616-70884014	GM12878	blood:	n/a	n/a
40	MXI1	chr14:70883341-70884059	GM12878	blood:	n/a	n/a
41	ZNF143	chr14:70883327-70884040	Hela-S3	cervix:	n/a	chr14:70883834-70883852
42	SRF	chr14:70883522-70884013	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr14:70883435-70883960	ProgFib	skin:	n/a	n/a
44	MAX	chr14:70883747-70883957	A549	lung:	n/a	n/a
45	MAX	chr14:70883289-70884088	MCF-7	breast:	n/a	n/a
46	MXI1	chr14:70882610-70884758	SK-N-SH	brain:	n/a	n/a
47	SIN3AK20	chr14:70883128-70884151	MCF-7	breast:	n/a	n/a
48	TBP	chr14:70883545-70884053	Hela-S3	cervix:	n/a	n/a
49	SIX5	chr14:70883498-70884172	A549	lung:	n/a	n/a
50	MYC	chr14:70883805-70883970	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SYNJ2BP	TF binding region
SYNJ2BP-COX16	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1060681	0.82[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11158858	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11626228	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626414	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628785	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12590808	0.86[ASN][1000 genomes]
rs12880777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12884918	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12893988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17475516	0.82[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17476399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17567627	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1953800	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2022624	0.85[AMR][1000 genomes]
rs2877661	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34273029	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34511042	0.86[ASN][1000 genomes]
rs34767236	0.82[ASN][1000 genomes]
rs34866539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3764183	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7493545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8016418	0.82[CEU][hapmap];0.85[CHB][hapmap];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70882400-70884000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:70882400-70884200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70882400-70884200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:70882400-70884200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:70882400-70884400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:70882400-70884400	Active TSS	GM12878-XiMat	blood
7	chr14:70882400-70884400	Active TSS	NHLF	lung
8	chr14:70882600-70884000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:70882600-70884000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70882600-70884000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:70882600-70884000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:70882600-70884000	Active TSS	Fetal Intestine Large	intestine
13	chr14:70882600-70884000	Active TSS	Stomach Smooth Muscle	stomach
14	chr14:70882600-70884200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr14:70882600-70884200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:70882600-70884200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:70882600-70884200	Active TSS	Brain Cingulate Gyrus	brain
18	chr14:70882600-70884200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:70882600-70884200	Active TSS	Colonic Mucosa	Colon
20	chr14:70882600-70884200	Active TSS	Fetal Stomach	stomach
21	chr14:70882600-70884200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr14:70882600-70884200	Active TSS	Right Ventricle	heart
23	chr14:70882600-70884400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:70882600-70884400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:70882600-70884400	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr14:70882800-70884000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr14:70882800-70884000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr14:70882800-70884000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr14:70882800-70884000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:70882800-70884000	Active TSS	Aorta	Aorta
31	chr14:70882800-70884000	Active TSS	Brain Anterior Caudate	brain
32	chr14:70882800-70884000	Active TSS	Brain Hippocampus Middle	brain
33	chr14:70882800-70884000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:70882800-70884000	Active TSS	Colon Smooth Muscle	Colon
35	chr14:70882800-70884000	Active TSS	Fetal Intestine Small	intestine
36	chr14:70882800-70884000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:70882800-70884000	Active TSS	A549	lung
38	chr14:70882800-70884000	Active TSS	Hela-S3	cervix
39	chr14:70882800-70884000	Active TSS	HMEC	breast
40	chr14:70882800-70884200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:70882800-70884200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr14:70882800-70884200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:70882800-70884200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:70882800-70884200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr14:70882800-70884200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:70882800-70884200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:70882800-70884200	Active TSS	Fetal Lung	lung
48	chr14:70882800-70884200	Active TSS	Left Ventricle	heart
49	chr14:70882800-70884200	Active TSS	Ovary	ovary
50	chr14:70882800-70884200	Active TSS	Rectal Smooth Muscle	rectum

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