Variant report

Variant	rs8007615
Chromosome Location	chr14:77780355-77780356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr14:77780272-77780683	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:77780320-77780470	RPTEC	kidney:	n/a	n/a
3	FOXA2	chr14:77780146-77780766	A549	lung:	n/a	n/a
4	SMC3	chr14:77780336-77780828	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr14:77780303-77780869	A549	lung:	n/a	chr14:77780616-77780627
6	ZBTB33	chr14:77780324-77780783	A549	lung:	n/a	n/a
7	REST	chr14:77780263-77780834	A549	lung:	n/a	n/a
8	RCOR1	chr14:77780247-77781084	IMR90	lung:	n/a	n/a
9	ATF3	chr14:77780265-77780859	A549	lung:	n/a	n/a
10	TCF12	chr14:77780237-77781463	A549	lung:	n/a	n/a
11	SP1	chr14:77780273-77780712	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOXA2	chr14:77780219-77780765	A549	lung:	n/a	n/a
13	TEAD4	chr14:77780280-77780796	H1-hESC	embryonic stem cell:	n/a	n/a
14	NR3C1	chr14:77780346-77780767	A549	lung:	n/a	n/a
15	EP300	chr14:77780306-77780690	H1-hESC	embryonic stem cell:	n/a	n/a
16	GATA3	chr14:77780341-77780871	A549	lung:	n/a	n/a
17	TEAD4	chr14:77780260-77780813	MCF-7	breast:	n/a	n/a
18	MAX	chr14:77780234-77781029	A549	lung:	n/a	n/a
19	CEBPB	chr14:77780290-77780950	A549	lung:	n/a	chr14:77780616-77780627 chr14:77780887-77780899
20	CEBPB	chr14:77780324-77780902	Hela-S3	cervix:	n/a	chr14:77780616-77780627 chr14:77780887-77780899
21	CTCF	chr14:77780340-77780490	AG10803	skin:	n/a	n/a
22	FOSL2	chr14:77780251-77780967	A549	lung:	n/a	chr14:77780352-77780366
23	USF1	chr14:77780343-77780899	A549	lung:	n/a	n/a
24	NR3C1	chr14:77780245-77780843	A549	lung:	n/a	n/a
25	JUND	chr14:77780355-77780737	A549	lung:	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	EP300	chr14:77780315-77780916	MCF-7	breast:	n/a	n/a
29	TEAD4	chr14:77780235-77780775	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr14:77780310-77780584	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr14:77780327-77780899	Hela-S3	cervix:	n/a	n/a
32	YY1	chr14:77780253-77780567	H1-hESC	embryonic stem cell:	n/a	n/a
33	EP300	chr14:77780302-77780903	A549	lung:	n/a	n/a
34	GATA3	chr14:77780072-77781453	A549	lung:	n/a	n/a
35	RAD21	chr14:77780255-77780693	H1-hESC	embryonic stem cell:	n/a	n/a
36	GABPA	chr14:77780324-77780767	A549	lung:	n/a	n/a
37	EP300	chr14:77780316-77780673	T-47D	breast:	n/a	n/a
38	POLR2A	chr14:77780317-77780592	H1-hESC	embryonic stem cell:	n/a	n/a
39	TEAD4	chr14:77780228-77780818	A549	lung:	n/a	n/a
40	RFX5	chr14:77780315-77780855	Hela-S3	cervix:	n/a	n/a
41	GATA3	chr14:77780240-77780835	T-47D	breast:	n/a	n/a
42	USF1	chr14:77780338-77780861	A549	lung:	n/a	n/a
43	TEAD4	chr14:77780261-77780909	A549	lung:	n/a	n/a
44	TEAD4	chr14:77780319-77780773	MCF-7	breast:	n/a	n/a
45	RAD21	chr14:77780297-77780770	Hela-S3	cervix:	n/a	n/a
46	SP1	chr14:77780194-77780929	A549	lung:	n/a	n/a
47	FOS	chr14:77780315-77780797	Hela-S3	cervix:	n/a	chr14:77780352-77780366
48	EP300	chr14:77780188-77780863	A549	lung:	n/a	n/a
49	ETS1	chr14:77780332-77780715	A549	lung:	n/a	n/a
50	FOXA1	chr14:77780252-77780785	T-47D	breast:	n/a	n/a

No data

(count:4 , 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:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11624859	0.88[ASN][1000 genomes]
rs11626281	0.86[ASN][1000 genomes]
rs11627257	0.88[ASN][1000 genomes]
rs12431465	0.80[ASN][1000 genomes]
rs17105672	0.88[ASN][1000 genomes]
rs2042045	0.94[ASN][1000 genomes]
rs2111699	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2193594	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270421	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363642	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363643	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2885854	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759733	0.81[ASN][1000 genomes]
rs3815626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147578	0.80[EUR][1000 genomes]
rs4147579	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4899650	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4903569	0.91[ASN][1000 genomes]
rs59630055	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61990299	0.88[ASN][1000 genomes]
rs6574367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574368	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67873774	0.88[ASN][1000 genomes]
rs7142812	0.94[ASN][1000 genomes]
rs7160188	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160195	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975	0.88[EUR][1000 genomes]
rs8008449	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8007615	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 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	chr14:77767800-77780400	Weak transcription	Colonic Mucosa	Colon
3	chr14:77768000-77780600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:77768000-77780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:77768800-77780400	Weak transcription	Right Ventricle	heart
6	chr14:77770000-77780400	Weak transcription	Esophagus	oesophagus
7	chr14:77770800-77785800	Weak transcription	K562	blood
8	chr14:77771200-77780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:77772000-77780400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:77772400-77780400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:77772400-77780400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:77772400-77780600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:77772600-77780600	Weak transcription	Pancreas	Pancrea
14	chr14:77772600-77781000	Weak transcription	Lung	lung
15	chr14:77772600-77781400	Weak transcription	Gastric	stomach
16	chr14:77772600-77782200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:77772600-77783800	Weak transcription	Dnd41	blood
18	chr14:77772600-77785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
20	chr14:77772800-77780800	Weak transcription	Left Ventricle	heart
21	chr14:77772800-77782400	Weak transcription	Liver	Liver
22	chr14:77772800-77785800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
24	chr14:77774000-77780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:77774000-77780400	Weak transcription	Fetal Lung	lung
26	chr14:77774000-77780400	Weak transcription	Osteobl	bone
27	chr14:77774000-77783400	Weak transcription	Stomach Mucosa	stomach
28	chr14:77774200-77781000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:77775800-77781400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:77775800-77785600	Weak transcription	HUVEC	blood vessel
31	chr14:77775800-77786200	Weak transcription	Primary T cells from cord blood	blood
32	chr14:77776000-77783000	Weak transcription	Fetal Thymus	thymus
33	chr14:77776000-77786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:77776000-77786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:77776200-77786200	Weak transcription	Primary B cells from cord blood	blood
36	chr14:77776400-77780800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:77776600-77785800	Weak transcription	Fetal Brain Male	brain
38	chr14:77776800-77780600	Weak transcription	Fetal Stomach	stomach
39	chr14:77777000-77784800	Weak transcription	Fetal Brain Female	brain
40	chr14:77777400-77785200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:77778000-77785800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:77778400-77784400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:77778800-77785800	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:77779000-77780400	Enhancers	A549	lung
45	chr14:77779000-77781600	Enhancers	Brain Hippocampus Middle	brain
46	chr14:77779000-77782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:77779000-77782200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:77779000-77782800	Enhancers	Placenta	Placenta
49	chr14:77779000-77783000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:77779000-77785800	Enhancers	Brain Anterior Caudate	brain

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