Variant report

Variant	rs6853965
Chromosome Location	chr4:76481051-76481052
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	FOS	chr4:76481044-76481401	MCF10A-Er-Src	breast:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
2	POU2F2	chr4:76480984-76481316	GM12891	blood:	n/a	chr4:76481202-76481209 chr4:76481199-76481212 chr4:76481194-76481216 chr4:76481201-76481211 chr4:76481198-76481212 chr4:76481200-76481212 chr4:76481201-76481211 chr4:76481201-76481210 chr4:76481198-76481213 chr4:76481200-76481210
3	RUNX3	chr4:76480865-76481407	GM12878	blood:	n/a	n/a
4	E2F4	chr4:76481049-76481190	MCF10A-Er-Src	breast:	n/a	n/a
5	POU2F2	chr4:76480981-76481364	GM12878	blood:	n/a	chr4:76481202-76481209 chr4:76481199-76481212 chr4:76481194-76481216 chr4:76481201-76481211 chr4:76481198-76481212 chr4:76481200-76481212 chr4:76481201-76481211 chr4:76481201-76481210 chr4:76481198-76481213 chr4:76481200-76481210
6	CEBPB	chr4:76480989-76481320	HepG2	liver:	n/a	n/a
7	RUNX3	chr4:76480913-76481451	GM12878	blood:	n/a	n/a
8	JUN	chr4:76481051-76481245	HepG2	liver:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
9	BATF	chr4:76480996-76481351	GM12878	blood:	n/a	n/a
10	POU2F2	chr4:76480947-76481427	GM12878	blood:	n/a	chr4:76481202-76481209 chr4:76481199-76481212 chr4:76481194-76481216 chr4:76481201-76481211 chr4:76481198-76481212 chr4:76481389-76481404 chr4:76481200-76481212 chr4:76481201-76481211 chr4:76481201-76481210 chr4:76481198-76481213 chr4:76481200-76481210
11	FOSL2	chr4:76480874-76481424	SK-N-SH	brain:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
12	STAT3	chr4:76481045-76481291	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr4:76481040-76481190	HAc	cerebellar:	n/a	n/a
14	FOSL2	chr4:76481034-76481392	HepG2	liver:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
15	STAT3	chr4:76481017-76481394	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:76480990-76481414	MCF10A-Er-Src	breast:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
17	EP300	chr4:76480936-76481311	SK-N-SH_RA	brain:	n/a	n/a
18	BATF	chr4:76481003-76481353	GM12878	blood:	n/a	n/a
19	WRNIP1	chr4:76480917-76481214	GM12878	blood:	n/a	n/a
20	CTCF	chr4:76480940-76481090	GM12875	blood:	n/a	n/a
21	PBX3	chr4:76480461-76481350	SK-N-SH	brain:	n/a	n/a
22	FOS	chr4:76480507-76481451	MCF10A-Er-Src	breast:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
23	JUND	chr4:76480993-76481421	K562	blood:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481227-76481238 chr4:76481228-76481237
24	EP300	chr4:76480869-76481377	SK-N-SH_RA	brain:	n/a	n/a
25	GATA3	chr4:76480735-76481512	SK-N-SH	brain:	n/a	chr4:76481023-76481044
26	JUND	chr4:76480811-76481425	HepG2	liver:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481227-76481238 chr4:76481228-76481237
27	CTCF	chr4:76480920-76481070	BJ	skin:	n/a	n/a
28	JUND	chr4:76480445-76481585	SK-N-SH	brain:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481227-76481238 chr4:76481228-76481237
29	PBX3	chr4:76480980-76481165	GM12878	blood:	n/a	n/a
30	GATA3	chr4:76480680-76481504	SK-N-SH	brain:	n/a	chr4:76481023-76481044
31	FOS	chr4:76481049-76481402	MCF10A-Er-Src	breast:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
32	PBX3	chr4:76480795-76481418	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
C4orf26	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11099641	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs2061741	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2061742	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34944703	0.82[ASN][1000 genomes]
rs6851864	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7676028	0.84[ASN][1000 genomes]
rs7681902	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76480200-76481400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:76480400-76481400	Enhancers	Placenta	Placenta
3	chr4:76480400-76481800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:76480400-76481800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:76480600-76481200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:76480600-76481200	Enhancers	Osteobl	bone
7	chr4:76480600-76481400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:76480600-76481400	Enhancers	K562	blood
9	chr4:76480600-76481600	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:76480600-76481600	Flanking Active TSS	GM12878-XiMat	blood
11	chr4:76480600-76481800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:76480600-76482200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:76480600-76482400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:76480800-76481200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:76480800-76481200	Active TSS	Duodenum Mucosa	Duodenum
16	chr4:76480800-76481200	Flanking Active TSS	NHEK	skin
17	chr4:76480800-76481400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:76480800-76481400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:76480800-76481400	Flanking Active TSS	HMEC	breast
20	chr4:76480800-76481600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:76480800-76481600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:76480800-76481600	Flanking Active TSS	NH-A	brain
23	chr4:76480800-76481800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:76480800-76481800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:76481000-76481400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:76481000-76481400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:76481000-76481400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:76481000-76481600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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