Variant report

Variant	rs73158676
Chromosome Location	chr7:139651127-139651128
allele	A/C/G/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	FOXA2	chr7:139650596-139651528	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:139650739-139651350	HepG2	liver:	n/a	chr7:139651064-139651079
3	MAX	chr7:139650684-139651387	MCF-7	breast:	n/a	n/a
4	FOXA2	chr7:139650843-139651284	HepG2	liver:	n/a	n/a
5	JUND	chr7:139650962-139651234	HepG2	liver:	n/a	chr7:139651119-139651130
6	MAX	chr7:139650799-139651295	A549	lung:	n/a	n/a
7	EP300	chr7:139650929-139651242	HepG2	liver:	n/a	n/a
8	MAX	chr7:139650735-139651390	HepG2	liver:	n/a	n/a
9	ZNF217	chr7:139650856-139651256	MCF-7	breast:	n/a	n/a
10	NR2F2	chr7:139650808-139651314	HepG2	liver:	n/a	n/a
11	NFIC	chr7:139650891-139651222	HepG2	liver:	n/a	n/a
12	HDAC2	chr7:139650819-139651289	HepG2	liver:	n/a	n/a
13	TCF7L2	chr7:139651031-139651254	HepG2	liver:	n/a	n/a
14	FOSL2	chr7:139650827-139651313	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:139650777-139651328	HepG2	liver:	n/a	chr7:139651064-139651079
16	EP300	chr7:139650856-139651250	HepG2	liver:	n/a	n/a
17	NR2F2	chr7:139650756-139651384	HepG2	liver:	n/a	n/a
18	FOSL2	chr7:139650841-139651355	HepG2	liver:	n/a	n/a
19	GATA3	chr7:139650924-139651235	MCF-7	breast:	n/a	n/a
20	GATA3	chr7:139650689-139651492	MCF-7	breast:	n/a	chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650887-139650903
21	RXRA	chr7:139650947-139651183	HepG2	liver:	n/a	n/a
22	TEAD4	chr7:139650885-139651198	HepG2	liver:	n/a	n/a
23	NR2F2	chr7:139650742-139651470	MCF-7	breast:	n/a	n/a
24	NFIC	chr7:139650792-139651339	HepG2	liver:	n/a	n/a
25	SP1	chr7:139650843-139651219	HepG2	liver:	n/a	n/a
26	GATA3	chr7:139650741-139651365	MCF-7	breast:	n/a	chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650887-139650903
27	JUND	chr7:139650937-139651289	HepG2	liver:	n/a	chr7:139651119-139651130
28	MYBL2	chr7:139650777-139651374	HepG2	liver:	n/a	n/a
29	FOXA1	chr7:139650871-139651211	T-47D	breast:	n/a	chr7:139651064-139651079
30	FOXA2	chr7:139650797-139651355	A549	lung:	n/a	n/a
31	FOSL2	chr7:139650837-139651354	A549	lung:	n/a	n/a
32	SIN3AK20	chr7:139650623-139651413	MCF-7	breast:	n/a	n/a
33	NR3C1	chr7:139650277-139651168	A549	lung:	n/a	chr7:139650331-139650345
34	FOXA1	chr7:139650732-139651363	HepG2	liver:	n/a	chr7:139651064-139651079
35	GATA3	chr7:139650895-139651279	T-47D	breast:	n/a	n/a
36	FOSL2	chr7:139650941-139651206	A549	lung:	n/a	n/a
37	REST	chr7:139650856-139651293	HepG2	liver:	n/a	n/a
38	GATA3	chr7:139650798-139651310	MCF-7	breast:	n/a	chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650887-139650903
39	MAX	chr7:139650672-139651373	A549	lung:	n/a	n/a
40	NR2F2	chr7:139650766-139651476	MCF-7	breast:	n/a	n/a
41	ARID3A	chr7:139650818-139651229	HepG2	liver:	n/a	n/a
42	JUND	chr7:139650969-139651225	HepG2	liver:	n/a	chr7:139651119-139651130
43	HDAC2	chr7:139650755-139651388	MCF-7	breast:	n/a	n/a
44	TCF12	chr7:139650737-139651403	A549	lung:	n/a	chr7:139650840-139650847 chr7:139650858-139650865 chr7:139650841-139650851
45	FOXA1	chr7:139650780-139651360	HepG2	liver:	n/a	chr7:139651064-139651079
46	MBD4	chr7:139650824-139651356	HepG2	liver:	n/a	n/a
47	MYBL2	chr7:139650861-139651296	HepG2	liver:	n/a	n/a
48	SP1	chr7:139650847-139651392	A549	lung:	n/a	n/a
49	GATA3	chr7:139650866-139651242	T-47D	breast:	n/a	chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650892-139650899 chr7:139650887-139650903

No.	Distal block	Cell Line	Cell type
1	chr7:139650846..139652754-chr7:139657378..139659276,2	MCF-7	breast:
2	chr7:139649248..139651136-chr7:139659607..139661310,2	MCF-7	breast:
3	chr7:139595708..139599443-chr7:139649328..139652268,3	MCF-7	breast:
4	chr7:139617102..139619901-chr7:139650362..139652571,2	K562	blood:

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17161272	0.92[EUR][1000 genomes]
rs17161282	0.92[EUR][1000 genomes]
rs2158667	0.92[EUR][1000 genomes]
rs73734163	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139634000-139656800	Weak transcription	Thymus	Thymus
2	chr7:139645800-139653000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:139646800-139651400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:139646800-139658600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:139647000-139654800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:139647000-139660600	Weak transcription	K562	blood
7	chr7:139647400-139651200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:139647600-139652800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:139647600-139653200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:139648400-139651200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:139648400-139655200	Weak transcription	Spleen	Spleen
12	chr7:139649400-139651400	Enhancers	Stomach Mucosa	stomach
13	chr7:139649600-139651400	Enhancers	Gastric	stomach
14	chr7:139649800-139658400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:139650200-139651400	Enhancers	Pancreas	Pancrea
16	chr7:139650600-139651200	Flanking Active TSS	A549	lung
17	chr7:139650600-139651400	Enhancers	HepG2	liver
18	chr7:139650800-139651200	Enhancers	Liver	Liver
19	chr7:139650800-139656400	Weak transcription	Lung	lung
20	chr7:139651000-139653400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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