Variant report

Variant	rs7678936
Chromosome Location	chr4:100078890-100078891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr4:100078181-100079208	A549	lung:	n/a	n/a
2	HDAC2	chr4:100078380-100079198	HepG2	liver:	n/a	n/a
3	CHD2	chr4:100078646-100078941	HepG2	liver:	n/a	n/a
4	JUND	chr4:100078607-100079050	HepG2	liver:	n/a	n/a
5	BHLHE40	chr4:100078565-100079055	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:100078087-100079360	HepG2	liver:	n/a	n/a
7	NR2F2	chr4:100078450-100079206	HepG2	liver:	n/a	n/a
8	MAFK	chr4:100078182-100079061	HepG2	liver:	n/a	chr4:100078863-100078878
9	NR2F2	chr4:100078067-100079314	HepG2	liver:	n/a	n/a
10	FOXA1	chr4:100078437-100079184	HepG2	liver:	n/a	n/a
11	HNF4G	chr4:100078534-100079107	HepG2	liver:	n/a	n/a
12	MYBL2	chr4:100078031-100079327	HepG2	liver:	n/a	n/a
13	CEBPB	chr4:100078582-100078960	HepG2	liver:	n/a	n/a
14	MAZ	chr4:100078250-100079087	HepG2	liver:	n/a	n/a
15	RXRA	chr4:100078593-100079048	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:100078242-100079073	HepG2	liver:	n/a	n/a
17	TCF12	chr4:100078641-100078906	HepG2	liver:	n/a	n/a
18	SMC3	chr4:100078197-100079227	HepG2	liver:	n/a	n/a
19	TCF7L2	chr4:100078214-100079501	HepG2	liver:	n/a	chr4:100078780-100078794
20	CREB1	chr4:100078248-100079074	HepG2	liver:	n/a	n/a
21	MBD4	chr4:100078161-100079155	HepG2	liver:	n/a	n/a
22	HNF4A	chr4:100078268-100079035	HepG2	liver:	n/a	chr4:100078838-100078853
23	FOXA2	chr4:100078172-100079100	HepG2	liver:	n/a	n/a
24	JUND	chr4:100078624-100079004	HepG2	liver:	n/a	n/a
25	MAFF	chr4:100078208-100079079	HepG2	liver:	n/a	chr4:100078861-100078879
26	MBD4	chr4:100078119-100079246	HepG2	liver:	n/a	n/a
27	JUND	chr4:100078208-100079153	HepG2	liver:	n/a	n/a
28	CEBPB	chr4:100078634-100078996	HepG2	liver:	n/a	n/a
29	RCOR1	chr4:100078398-100079162	HepG2	liver:	n/a	n/a
30	HNF4A	chr4:100078401-100079077	HepG2	liver:	n/a	chr4:100078838-100078853
31	ZBTB33	chr4:100078704-100078915	HepG2	liver:	n/a	n/a
32	MAX	chr4:100077985-100079099	HepG2	liver:	n/a	n/a
33	FOXA1	chr4:100078064-100079366	HepG2	liver:	n/a	n/a
34	HNF4G	chr4:100078335-100079105	HepG2	liver:	n/a	n/a
35	MXI1	chr4:100078198-100079004	HepG2	liver:	n/a	n/a
36	NFIC	chr4:100078004-100079476	HepG2	liver:	n/a	n/a
37	JUN	chr4:100078202-100079012	HepG2	liver:	n/a	n/a
38	MYBL2	chr4:100078155-100079096	HepG2	liver:	n/a	n/a
39	SP1	chr4:100078431-100079204	HepG2	liver:	n/a	n/a
40	MAFK	chr4:100078220-100079115	HepG2	liver:	n/a	chr4:100078863-100078878
41	FOXA1	chr4:100078137-100079292	HepG2	liver:	n/a	n/a
42	RFX5	chr4:100078588-100079014	HepG2	liver:	n/a	n/a
43	RAD21	chr4:100078576-100079065	HepG2	liver:	n/a	n/a
44	TCF7L2	chr4:100078580-100078958	MCF-7	breast:	n/a	chr4:100078780-100078794
45	MAX	chr4:100078177-100078969	HepG2	liver:	n/a	n/a
46	TEAD4	chr4:100078011-100079412	HepG2	liver:	n/a	n/a
47	TBP	chr4:100078365-100078953	HepG2	liver:	n/a	n/a
48	TEAD4	chr4:100078539-100078939	HepG2	liver:	n/a	n/a
49	CEBPB	chr4:100078267-100078975	HepG2	liver:	n/a	n/a
50	HDAC2	chr4:100078535-100079129	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000246090	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10017466	1.00[CHD][hapmap]
rs10155319	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11097653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1126670	1.00[CHD][hapmap]
rs1126671	1.00[CHD][hapmap]
rs1126673	1.00[CHD][hapmap]
rs13113095	0.93[AFR][1000 genomes]
rs1540053	0.82[ASW][hapmap];1.00[CHD][hapmap];0.89[YRI][hapmap]
rs1573495	1.00[CHD][hapmap]
rs1893881	1.00[CHD][hapmap]
rs1970703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2032346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2032347	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2032349	1.00[CHD][hapmap]
rs2156736	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213039	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4141887	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4431231	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4699722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532798	1.00[CHD][hapmap]
rs6532800	1.00[CHD][hapmap]
rs6532803	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532806	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6814925	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837685	1.00[CHD][hapmap]
rs6855482	1.00[CHD][hapmap]
rs7674136	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7678890	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9307234	1.00[CHD][hapmap]
rs9683878	0.92[AMR][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3528915	chr4:100025155-100096234	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3528916	chr4:100025155-100096234	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:100035000-100098200	Weak transcription	Ovary	ovary
2	chr4:100056800-100082600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:100064000-100082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:100065600-100096600	Weak transcription	Fetal Lung	lung
5	chr4:100066200-100083200	Enhancers	Liver	Liver
6	chr4:100066600-100082600	Weak transcription	Pancreas	Pancrea
7	chr4:100072200-100101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:100074600-100085400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:100075600-100083200	Enhancers	HepG2	liver
10	chr4:100077400-100079000	Enhancers	Fetal Intestine Large	intestine
11	chr4:100077400-100079400	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:100077800-100080000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:100078000-100079000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:100078600-100079000	Enhancers	Fetal Kidney	kidney
15	chr4:100078800-100088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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