Variant report

Variant	rs8008449
Chromosome Location	chr14:77780784-77780785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr14:77780398-77780841	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr14:77780400-77780805	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr14:77780336-77780828	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr14:77780303-77780869	A549	lung:	n/a	chr14:77780616-77780627
5	REST	chr14:77780263-77780834	A549	lung:	n/a	n/a
6	RCOR1	chr14:77780247-77781084	IMR90	lung:	n/a	n/a
7	ATF3	chr14:77780265-77780859	A549	lung:	n/a	n/a
8	FOS	chr14:77780438-77780830	MCF10A-Er-Src	breast:	n/a	n/a
9	TCF12	chr14:77780237-77781463	A549	lung:	n/a	n/a
10	TEAD4	chr14:77780280-77780796	H1-hESC	embryonic stem cell:	n/a	n/a
11	STAT3	chr14:77780685-77780797	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr14:77780341-77780871	A549	lung:	n/a	n/a
13	TEAD4	chr14:77780260-77780813	MCF-7	breast:	n/a	n/a
14	MYC	chr14:77780384-77780871	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr14:77780234-77781029	A549	lung:	n/a	n/a
16	CEBPB	chr14:77780290-77780950	A549	lung:	n/a	chr14:77780616-77780627 chr14:77780887-77780899
17	USF1	chr14:77780497-77780868	SK-N-SH	brain:	n/a	n/a
18	CEBPB	chr14:77780324-77780902	Hela-S3	cervix:	n/a	chr14:77780616-77780627 chr14:77780887-77780899
19	CTCF	chr14:77780760-77780910	NHLF	lung:	n/a	n/a
20	FOSL2	chr14:77780251-77780967	A549	lung:	n/a	chr14:77780352-77780366
21	MAX	chr14:77780406-77780822	SK-N-SH	brain:	n/a	n/a
22	USF1	chr14:77780343-77780899	A549	lung:	n/a	n/a
23	SIN3AK20	chr14:77780360-77780824	A549	lung:	n/a	n/a
24	NR3C1	chr14:77780245-77780843	A549	lung:	n/a	n/a
25	MYC	chr14:77780434-77780869	MCF10A-Er-Src	breast:	n/a	n/a
26	BCL3	chr14:77780338-77780850	A549	lung:	n/a	n/a
27	EP300	chr14:77780250-77780830	T-47D	breast:	n/a	n/a
28	RCOR1	chr14:77780383-77780812	Hela-S3	cervix:	n/a	n/a
29	EP300	chr14:77780315-77780916	MCF-7	breast:	n/a	n/a
30	USF1	chr14:77780379-77780807	A549	lung:	n/a	n/a
31	MXI1	chr14:77780327-77780899	Hela-S3	cervix:	n/a	n/a
32	EP300	chr14:77780302-77780903	A549	lung:	n/a	n/a
33	CEBPB	chr14:77780413-77780850	IMR90	lung:	n/a	chr14:77780616-77780627
34	GATA3	chr14:77780072-77781453	A549	lung:	n/a	n/a
35	FOSL2	chr14:77780360-77780792	A549	lung:	n/a	n/a
36	TBP	chr14:77780412-77780861	Hela-S3	cervix:	n/a	n/a
37	FOS	chr14:77780475-77780815	MCF10A-Er-Src	breast:	n/a	n/a
38	TEAD4	chr14:77780228-77780818	A549	lung:	n/a	n/a
39	RFX5	chr14:77780315-77780855	Hela-S3	cervix:	n/a	n/a
40	GATA3	chr14:77780240-77780835	T-47D	breast:	n/a	n/a
41	MAFK	chr14:77780505-77780822	IMR90	lung:	n/a	n/a
42	USF1	chr14:77780338-77780861	A549	lung:	n/a	n/a
43	FOS	chr14:77780449-77780796	MCF10A-Er-Src	breast:	n/a	n/a
44	TEAD4	chr14:77780261-77780909	A549	lung:	n/a	n/a
45	EP300	chr14:77780365-77780831	Hela-S3	cervix:	n/a	n/a
46	SIN3AK20	chr14:77780358-77780854	A549	lung:	n/a	n/a
47	SP1	chr14:77780194-77780929	A549	lung:	n/a	n/a
48	MAX	chr14:77780361-77780873	Hela-S3	cervix:	n/a	n/a
49	FOS	chr14:77780315-77780797	Hela-S3	cervix:	n/a	chr14:77780352-77780366
50	EP300	chr14:77780188-77780863	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77775076..77779101-chr14:77779671..77782619,4	K562	blood:
2	chr14:77779002..77781613-chr14:77924414..77926801,2	MCF-7	breast:
3	chr14:77646051..77648971-chr14:77780111..77782415,2	MCF-7	breast:
4	chr14:77618067..77622242-chr14:77780236..77782516,4	MCF-7	breast:
5	chr14:77767554..77768255-chr14:77780481..77781305,2	MCF-7	breast:

No data

Variant related genes	Relation type
POMT2	TF binding region
ENSG00000100591	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000165548	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11624859	0.94[ASN][1000 genomes]
rs11626281	0.92[ASN][1000 genomes]
rs11627257	0.94[ASN][1000 genomes]
rs12431465	0.84[ASN][1000 genomes]
rs17105672	0.94[ASN][1000 genomes]
rs2042045	0.89[ASN][1000 genomes]
rs2111699	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2193594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270421	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270423	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287387	0.83[ASN][1000 genomes]
rs2287395	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2363641	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363642	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363643	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2885854	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815626	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4147578	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4147579	0.81[EUR][1000 genomes]
rs4899650	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4903567	0.83[ASN][1000 genomes]
rs4903568	0.83[ASN][1000 genomes]
rs4903569	0.85[ASN][1000 genomes]
rs59630055	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990299	0.94[ASN][1000 genomes]
rs6574367	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574368	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67873774	0.94[ASN][1000 genomes]
rs7142812	0.89[ASN][1000 genomes]
rs7160188	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160195	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007615	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016187	0.93[EUR][1000 genomes];0.85[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8008449	GSTZ1	cis	Esophagus Mucosa	GTEx
rs8008449	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:77770800-77785800	Weak transcription	K562	blood
3	chr14:77771200-77780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:77772600-77781000	Weak transcription	Lung	lung
5	chr14:77772600-77781400	Weak transcription	Gastric	stomach
6	chr14:77772600-77782200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:77772600-77783800	Weak transcription	Dnd41	blood
8	chr14:77772600-77785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
10	chr14:77772800-77780800	Weak transcription	Left Ventricle	heart
11	chr14:77772800-77782400	Weak transcription	Liver	Liver
12	chr14:77772800-77785800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
14	chr14:77774000-77783400	Weak transcription	Stomach Mucosa	stomach
15	chr14:77774200-77781000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:77775800-77781400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:77775800-77785600	Weak transcription	HUVEC	blood vessel
18	chr14:77775800-77786200	Weak transcription	Primary T cells from cord blood	blood
19	chr14:77776000-77783000	Weak transcription	Fetal Thymus	thymus
20	chr14:77776000-77786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:77776000-77786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:77776200-77786200	Weak transcription	Primary B cells from cord blood	blood
23	chr14:77776400-77780800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:77776600-77785800	Weak transcription	Fetal Brain Male	brain
25	chr14:77777000-77784800	Weak transcription	Fetal Brain Female	brain
26	chr14:77777400-77785200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:77778000-77785800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:77778400-77784400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:77778800-77785800	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:77779000-77781600	Enhancers	Brain Hippocampus Middle	brain
31	chr14:77779000-77782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:77779000-77782200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:77779000-77782800	Enhancers	Placenta	Placenta
34	chr14:77779000-77783000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:77779000-77785800	Enhancers	Brain Anterior Caudate	brain
36	chr14:77779000-77786200	Enhancers	Fetal Intestine Large	intestine
37	chr14:77779200-77781200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:77779200-77781200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:77779200-77781400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:77779200-77782000	Enhancers	HSMMtube	muscle
41	chr14:77779200-77782000	Enhancers	NHDF-Ad	bronchial
42	chr14:77779200-77782400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr14:77779200-77782400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:77779200-77782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr14:77779200-77782400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:77779200-77783000	Enhancers	Colon Smooth Muscle	Colon
47	chr14:77779200-77783200	Enhancers	Brain Substantia Nigra	brain
48	chr14:77779200-77784600	Enhancers	HepG2	liver
49	chr14:77779200-77785400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr14:77779200-77785800	Enhancers	Brain Angular Gyrus	brain

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