Variant report

Variant	rs113354270
Chromosome Location	chr4:78912184-78912185
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	FOXA1	chr4:78912026-78912503	HepG2	liver:	n/a	n/a
2	RAD21	chr4:78912148-78912453	SK-N-SH_RA	brain:	n/a	n/a
3	GATA3	chr4:78911593-78912831	SK-N-SH	brain:	n/a	chr4:78912001-78912022 chr4:78912008-78912015 chr4:78912008-78912015 chr4:78912008-78912015 chr4:78912003-78912019
4	EP300	chr4:78912092-78912292	HepG2	liver:	n/a	chr4:78912160-78912174
5	EP300	chr4:78912019-78912465	HepG2	liver:	n/a	chr4:78912160-78912174
6	NFIC	chr4:78911972-78912392	HepG2	liver:	n/a	n/a
7	FOXA1	chr4:78912003-78912335	HepG2	liver:	n/a	n/a
8	GATA2	chr4:78911786-78912652	SH-SY5Y	brain:	n/a	chr4:78912001-78912022 chr4:78912008-78912015 chr4:78912008-78912015 chr4:78912008-78912015 chr4:78912003-78912019
9	EP300	chr4:78912035-78912454	HepG2	liver:	n/a	chr4:78912160-78912174
10	FOSL2	chr4:78911995-78912383	HepG2	liver:	n/a	n/a
11	GATA3	chr4:78911708-78913525	SH-SY5Y	brain:	n/a	chr4:78913487-78913499 chr4:78913489-78913498 chr4:78913486-78913496 chr4:78912001-78912022 chr4:78912008-78912015 chr4:78912008-78912015 chr4:78913173-78913180 chr4:78912008-78912015 chr4:78913488-78913498 chr4:78913485-78913501 chr4:78912003-78912019 chr4:78913489-78913496
12	PBX3	chr4:78911983-78912647	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr4:78911933-78912711	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr4:78911580-78912800	SK-N-SH	brain:	n/a	n/a
15	JUND	chr4:78912078-78912421	HepG2	liver:	n/a	n/a
16	MXI1	chr4:78911792-78914223	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr4:78911560-78912775	SK-N-SH	brain:	n/a	chr4:78912001-78912022 chr4:78912008-78912015 chr4:78912008-78912015 chr4:78912008-78912015 chr4:78912003-78912019
18	TEAD4	chr4:78912089-78912660	SK-N-SH	brain:	n/a	n/a
19	EP300	chr4:78912005-78912609	SK-N-SH_RA	brain:	n/a	chr4:78912160-78912174
20	FOSL2	chr4:78911932-78912462	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:78911597-78912340	HepG2	liver:	n/a	chr4:78911733-78911744
22	YY1	chr4:78912153-78912541	SK-N-SH_RA	brain:	n/a	n/a
23	TCF12	chr4:78911833-78912740	SK-N-SH	brain:	n/a	n/a
24	FOXA2	chr4:78912085-78912280	HepG2	liver:	n/a	n/a
25	EP300	chr4:78911761-78912633	SK-N-SH_RA	brain:	n/a	chr4:78912160-78912174
26	ARID3A	chr4:78912050-78912450	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:78912106-78912554	SK-N-SH	brain:	n/a	n/a
28	YY1	chr4:78912128-78912465	SK-N-SH_RA	brain:	n/a	n/a
29	JUN	chr4:78912060-78912327	HepG2	liver:	n/a	n/a
30	EP300	chr4:78911101-78914215	SK-N-SH	brain:	n/a	chr4:78913240-78913249 chr4:78911637-78911646 chr4:78912160-78912174
31	EP300	chr4:78912004-78912734	SK-N-SH	brain:	n/a	chr4:78912160-78912174

Variant related genes	Relation type
HNRNPA1P56	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
11	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv1004772	chr4:78906866-78976561	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78911000-78913800	Enhancers	Fetal Lung	lung
2	chr4:78911200-78912200	Enhancers	Fetal Stomach	stomach
3	chr4:78911200-78912600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:78911200-78912600	Enhancers	Fetal Brain Male	brain
5	chr4:78911200-78912600	Enhancers	HepG2	liver
6	chr4:78911400-78912200	Enhancers	HUVEC	blood vessel
7	chr4:78911400-78912400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:78911400-78912400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:78911400-78915200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:78911600-78913200	Enhancers	Fetal Brain Female	brain
11	chr4:78911800-78912200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:78911800-78912400	Enhancers	Brain Germinal Matrix	brain
13	chr4:78911800-78913400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:78911800-78913400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:78912000-78912400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:78912000-78912400	Enhancers	NHDF-Ad	bronchial
17	chr4:78912000-78912800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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