Variant report

Variant	rs4374988
Chromosome Location	chr8:62695543-62695544
allele	C/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	ZBTB33	chr8:62695241-62695685	A549	lung:	n/a	n/a
2	HDAC2	chr8:62695298-62695783	HepG2	liver:	n/a	n/a
3	JUND	chr8:62695152-62695730	A549	lung:	n/a	n/a
4	JUND	chr8:62695243-62695792	MCF-7	breast:	n/a	n/a
5	FOXA1	chr8:62695191-62695768	HepG2	liver:	n/a	chr8:62695532-62695544 chr8:62695399-62695414
6	EP300	chr8:62695228-62695759	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:62695313-62695942	HepG2	liver:	n/a	n/a
8	FOXA2	chr8:62695153-62695898	HepG2	liver:	n/a	chr8:62695532-62695544
9	EP300	chr8:62695192-62695728	HepG2	liver:	n/a	n/a
10	FOS	chr8:62695252-62695559	MCF10A-Er-Src	breast:	n/a	n/a
11	TCF12	chr8:62694904-62696543	A549	lung:	n/a	chr8:62695404-62695413
12	FOXM1	chr8:62695144-62695812	MCF-7	breast:	n/a	n/a
13	GATA3	chr8:62695018-62695922	MCF-7	breast:	n/a	chr8:62695418-62695431
14	FOXA2	chr8:62695227-62695747	HepG2	liver:	n/a	chr8:62695532-62695544
15	CEBPB	chr8:62695380-62695581	HepG2	liver:	n/a	chr8:62695516-62695529
16	MYC	chr8:62695286-62695649	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr8:62695341-62695736	Hela-S3	cervix:	n/a	n/a
18	SIN3AK20	chr8:62695134-62695891	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:62695329-62695765	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr8:62695153-62695758	HepG2	liver:	n/a	chr8:62695532-62695544 chr8:62695399-62695414
21	STAT3	chr8:62695237-62695756	MCF10A-Er-Src	breast:	n/a	n/a
22	ATF3	chr8:62695221-62695762	A549	lung:	n/a	n/a
23	NR3C1	chr8:62695155-62695728	A549	lung:	n/a	chr8:62695563-62695572
24	NR3C1	chr8:62695206-62695766	A549	lung:	n/a	chr8:62695563-62695572
25	MAX	chr8:62695168-62696569	A549	lung:	n/a	n/a
26	FOS	chr8:62695126-62695760	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr8:62695308-62695657	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXA2	chr8:62694932-62695738	A549	lung:	n/a	chr8:62695532-62695544
29	SP1	chr8:62694964-62695818	A549	lung:	n/a	n/a
30	FOXA1	chr8:62695154-62695645	T-47D	breast:	n/a	chr8:62695532-62695544 chr8:62695399-62695414
31	FOS	chr8:62695128-62695684	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA3	chr8:62695374-62695850	MCF-7	breast:	n/a	chr8:62695418-62695431
33	SP1	chr8:62695003-62696308	A549	lung:	n/a	n/a
34	FOSL2	chr8:62695200-62695688	A549	lung:	n/a	n/a
35	HDAC2	chr8:62695332-62695728	MCF-7	breast:	n/a	n/a
36	CEBPB	chr8:62695313-62695716	HepG2	liver:	n/a	chr8:62695516-62695529
37	NR2F2	chr8:62695152-62695841	MCF-7	breast:	n/a	n/a
38	FOXA2	chr8:62695095-62695844	A549	lung:	n/a	chr8:62695532-62695544
39	NR3C1	chr8:62695334-62695708	A549	lung:	n/a	chr8:62695563-62695572
40	GATA3	chr8:62695173-62695910	MCF-7	breast:	n/a	chr8:62695418-62695431
41	CEBPB	chr8:62695072-62696200	A549	lung:	n/a	chr8:62695516-62695529
42	NR3C1	chr8:62695230-62695698	A549	lung:	n/a	chr8:62695563-62695572
43	EP300	chr8:62695148-62695952	A549	lung:	n/a	n/a
44	GATA3	chr8:62695163-62695882	A549	lung:	n/a	chr8:62695418-62695431
45	CEBPB	chr8:62695311-62695635	HepG2	liver:	n/a	chr8:62695516-62695529
46	REST	chr8:62695154-62695774	A549	lung:	n/a	n/a
47	SIN3AK20	chr8:62695165-62695978	MCF-7	breast:	n/a	n/a
48	NR2F2	chr8:62695081-62695770	MCF-7	breast:	n/a	n/a
49	STAT3	chr8:62695261-62695917	MCF10A-Er-Src	breast:	n/a	n/a
50	NFIC	chr8:62695231-62695667	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62646823..62647370-chr8:62695084..62695807,2	MCF-7	breast:
2	chr8:62646181..62648199-chr8:62694469..62696991,2	MCF-7	breast:
3	chr8:62689606..62691106-chr8:62694744..62696625,2	K562	blood:

Variant related genes	Relation type
ENSG00000254119	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1874218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60736029	1.00[ASN][1000 genomes]

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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv968546	chr8:62689202-62696074	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62685600-62696200	Weak transcription	Pancreas	Pancrea
2	chr8:62690200-62698000	Weak transcription	K562	blood
3	chr8:62690600-62702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:62691400-62700200	Enhancers	Liver	Liver
5	chr8:62691600-62698200	Weak transcription	NHDF-Ad	bronchial
6	chr8:62692200-62697800	Enhancers	HepG2	liver
7	chr8:62692800-62702200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:62693000-62695800	Weak transcription	Fetal Lung	lung
9	chr8:62693000-62696000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:62693000-62702000	Enhancers	Hela-S3	cervix
11	chr8:62693200-62696600	Weak transcription	Osteobl	bone
12	chr8:62694600-62695600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:62695200-62696400	Weak transcription	Lung	lung
14	chr8:62695200-62696800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:62695200-62696800	Flanking Active TSS	A549	lung
16	chr8:62695400-62697400	Enhancers	Stomach Mucosa	stomach

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