Variant report

Variant	rs304773
Chromosome Location	chr7:80002223-80002224
allele	A/C
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	GATA3	chr7:80001576-80002263	A549	lung:	n/a	n/a
2	PBX3	chr7:80001652-80002295	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr7:80001666-80002242	A549	lung:	n/a	n/a
4	TEAD4	chr7:80001498-80002302	SK-N-SH	brain:	n/a	chr7:80001932-80001941
5	SP1	chr7:80001692-80002236	A549	lung:	n/a	chr7:80002192-80002206
6	SP1	chr7:80001696-80002224	A549	lung:	n/a	chr7:80002192-80002206
7	GATA3	chr7:80001492-80002298	SK-N-SH	brain:	n/a	n/a
8	EP300	chr7:80001636-80002274	A549	lung:	n/a	n/a
9	TCF12	chr7:80001600-80002252	SK-N-SH	brain:	n/a	n/a
10	EP300	chr7:80001563-80002336	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr7:80001577-80002306	SK-N-SH	brain:	n/a	chr7:80001932-80001941
12	NFIC	chr7:80001541-80002289	SK-N-SH	brain:	n/a	n/a
13	EP300	chr7:80001580-80002289	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000232667	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10224403	0.94[ASN][1000 genomes]
rs10224913	0.81[ASN][1000 genomes]
rs10227851	0.95[ASN][1000 genomes]
rs10228269	0.91[ASN][1000 genomes]
rs10228938	0.94[ASN][1000 genomes]
rs10261395	0.81[ASN][1000 genomes]
rs10265717	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs10267427	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs10282378	0.95[ASN][1000 genomes]
rs10480799	0.87[JPT][hapmap]
rs10486933	0.81[ASN][1000 genomes]
rs10486935	0.81[ASN][1000 genomes]
rs1074389	0.81[ASN][1000 genomes]
rs13224803	0.81[ASN][1000 genomes]
rs13230620	0.80[JPT][hapmap]
rs1878214	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs1878314	0.87[ASN][1000 genomes]
rs2040896	0.87[ASN][1000 genomes]
rs304756	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs304757	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs304762	0.84[EUR][1000 genomes]
rs304763	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs304771	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs304774	0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs304775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs304776	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs304779	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs304783	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs304800	0.80[EUR][1000 genomes]
rs304802	0.82[EUR][1000 genomes]
rs304803	0.82[EUR][1000 genomes]
rs34631466	0.81[ASN][1000 genomes]
rs35439899	0.99[ASN][1000 genomes]
rs37931	0.85[ASN][1000 genomes]
rs37938	0.95[ASN][1000 genomes]
rs3847097	0.86[ASN][1000 genomes]
rs388392	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4373467	0.81[ASN][1000 genomes]
rs4487675	0.81[ASN][1000 genomes]
rs6467113	0.92[ASN][1000 genomes]
rs6966532	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs757706	0.95[ASN][1000 genomes]
rs7788512	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv525104	chr7:79991029-80002223	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80000400-80003000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:80000400-80008000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80001200-80002800	Enhancers	HSMM	muscle
4	chr7:80001200-80003200	Enhancers	A549	lung
5	chr7:80001400-80002600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:80001600-80002400	Enhancers	Osteobl	bone
7	chr7:80001600-80002600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:80001800-80002600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:80001800-80007200	Weak transcription	HSMMtube	muscle
10	chr7:80002000-80003000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:80002200-80002600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:80002200-80002800	Weak transcription	Aorta	Aorta
13	chr7:80002200-80003000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:80002200-80003200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:80002200-80003800	Active TSS	Liver	Liver

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