Variant report

Variant	rs73211351
Chromosome Location	chr4:8443312-8443313
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	EP300	chr4:8443304-8443456	HepG2	liver:	n/a	n/a
2	JUN	chr4:8440970-8443464	K562	blood:	n/a	chr4:8442293-8442304 chr4:8442412-8442426
3	MXI1	chr4:8440826-8443653	IMR90	lung:	n/a	n/a
4	CEBPB	chr4:8443159-8443608	A549	lung:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
5	CEBPB	chr4:8443222-8443605	HepG2	liver:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
6	FOS	chr4:8443207-8443560	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr4:8443280-8443430	NHLF	lung:	n/a	n/a
8	POLR2A	chr4:8440524-8443902	MCF10A-Er-Src	breast:	n/a	n/a
9	ATF1	chr4:8441931-8444132	K562	blood:	n/a	n/a
10	CEBPB	chr4:8443216-8443607	Hela-S3	cervix:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
11	CEBPB	chr4:8443191-8443619	ECC-1	luminal epithelium:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
12	CEBPB	chr4:8443221-8443594	HepG2	liver:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
13	FOS	chr4:8443261-8443484	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:8441725-8443474	PBDE	blood:	n/a	n/a
15	CEBPB	chr4:8443115-8443603	ECC-1	luminal epithelium:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
16	CEBPB	chr4:8442929-8443676	K562	blood:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
17	CEBPB	chr4:8443103-8443691	HCT-116	colon:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
18	CEBPB	chr4:8443246-8443558	K562	blood:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
19	MYC	chr4:8443256-8443499	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr4:8443220-8443667	H1-hESC	embryonic stem cell:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
21	CEBPB	chr4:8443187-8443659	MCF-7	breast:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
22	CEBPB	chr4:8443111-8443716	K562	blood:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
23	CEBPB	chr4:8443056-8443772	A549	lung:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
24	CEBPB	chr4:8443212-8443652	IMR90	lung:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
25	WRNIP1	chr4:8443074-8443315	GM12878	blood:	n/a	n/a
26	MXI1	chr4:8441003-8443406	SK-N-SH	brain:	n/a	n/a
27	CEBPB	chr4:8443106-8443711	MCF-7	breast:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
28	CEBPB	chr4:8443280-8443548	HepG2	liver:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
29	CEBPB	chr4:8443252-8443512	HepG2	liver:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
30	CEBPB	chr4:8443166-8443660	A549	lung:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417

No.	Distal block	Cell Line	Cell type
1	chr4:8428810..8430394-chr4:8440724..8444143,3	K562	blood:
2	chr4:8439123..8440667-chr4:8441503..8443912,2	K562	blood:
3	chr4:8442733..8444744-chr4:8447806..8449869,2	MCF-7	breast:
4	chr4:8439008..8440667-chr4:8441503..8443852,2	K562	blood:
5	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

Variant related genes	Relation type
ACOX3	TF binding region
ENSG00000087008	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10516192	0.89[EUR][1000 genomes]
rs11933361	0.89[EUR][1000 genomes]
rs11938744	0.89[EUR][1000 genomes]
rs12108233	1.00[EUR][1000 genomes]
rs12108264	1.00[EUR][1000 genomes]
rs12108299	0.89[EUR][1000 genomes]
rs12500106	0.89[EUR][1000 genomes]
rs12500186	0.89[EUR][1000 genomes]
rs12500188	0.89[EUR][1000 genomes]
rs12501889	0.89[EUR][1000 genomes]
rs12503080	0.89[EUR][1000 genomes]
rs12504157	1.00[AFR][1000 genomes]
rs12504328	0.89[EUR][1000 genomes]
rs12504813	0.89[EUR][1000 genomes]
rs12506061	1.00[AFR][1000 genomes]
rs12506272	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12506429	0.89[EUR][1000 genomes]
rs12506703	0.89[EUR][1000 genomes]
rs12509545	0.89[EUR][1000 genomes]
rs12511417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12511591	0.89[EUR][1000 genomes]
rs12512006	0.89[EUR][1000 genomes]
rs12513048	1.00[AFR][1000 genomes]
rs12513296	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16842284	0.89[EUR][1000 genomes]
rs16842305	0.89[EUR][1000 genomes]
rs16842316	0.89[EUR][1000 genomes]
rs34873641	0.89[EUR][1000 genomes]
rs41264711	1.00[AFR][1000 genomes]
rs55856487	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59670959	0.89[EUR][1000 genomes]
rs59872851	0.89[EUR][1000 genomes]
rs66675498	0.89[EUR][1000 genomes]
rs66794792	0.89[EUR][1000 genomes]
rs67332046	0.89[EUR][1000 genomes]
rs67496006	0.89[EUR][1000 genomes]
rs67901119	0.89[EUR][1000 genomes]
rs6813671	0.89[EUR][1000 genomes]
rs6814866	0.89[EUR][1000 genomes]
rs73209502	1.00[AFR][1000 genomes]
rs73211306	1.00[AFR][1000 genomes]
rs73211315	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73211334	1.00[AFR][1000 genomes]
rs73211338	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73211340	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73211347	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73211354	1.00[EUR][1000 genomes]
rs73211357	0.89[EUR][1000 genomes]
rs73211359	0.89[EUR][1000 genomes]
rs73211365	0.89[EUR][1000 genomes]
rs73211366	0.89[EUR][1000 genomes]
rs73211368	0.89[EUR][1000 genomes]
rs73211373	0.89[EUR][1000 genomes]
rs73211378	0.89[EUR][1000 genomes]
rs73211381	0.89[EUR][1000 genomes]
rs73211383	0.89[EUR][1000 genomes]
rs73211388	0.89[EUR][1000 genomes]
rs73211394	0.89[EUR][1000 genomes]
rs73211401	0.89[EUR][1000 genomes]
rs73213403	0.89[EUR][1000 genomes]
rs73213404	0.89[EUR][1000 genomes]
rs73213405	0.89[EUR][1000 genomes]
rs73213406	0.89[EUR][1000 genomes]
rs73213409	0.89[EUR][1000 genomes]
rs73213410	0.89[EUR][1000 genomes]
rs73213413	0.89[EUR][1000 genomes]
rs73213414	0.89[EUR][1000 genomes]
rs73213420	0.89[EUR][1000 genomes]
rs73213426	0.89[EUR][1000 genomes]
rs73223242	0.89[EUR][1000 genomes]
rs73223246	0.89[EUR][1000 genomes]
rs73223250	0.89[EUR][1000 genomes]
rs73223263	0.89[EUR][1000 genomes]
rs73223264	0.89[EUR][1000 genomes]
rs73223266	0.89[EUR][1000 genomes]
rs73223271	0.89[EUR][1000 genomes]
rs73223275	0.89[EUR][1000 genomes]
rs73223282	0.89[EUR][1000 genomes]
rs73223294	0.89[EUR][1000 genomes]
rs9761200	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8439600-8443800	Active TSS	K562	blood
2	chr4:8440800-8443400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:8440800-8443400	Active TSS	Ovary	ovary
4	chr4:8441400-8443400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:8441400-8443400	Active TSS	Psoas Muscle	Psoas
6	chr4:8441400-8443400	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr4:8441400-8443400	Active TSS	NHLF	lung
8	chr4:8441400-8443800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr4:8441400-8444000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:8441600-8443400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:8441600-8443400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:8441600-8443400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:8441600-8443400	Active TSS	Fetal Kidney	kidney
14	chr4:8441600-8443400	Active TSS	Rectal Smooth Muscle	rectum
15	chr4:8441600-8443400	Active TSS	Right Atrium	heart
16	chr4:8441600-8443400	Active TSS	GM12878-XiMat	blood
17	chr4:8441600-8443400	Active TSS	Hela-S3	cervix
18	chr4:8441600-8443400	Active TSS	HMEC	breast
19	chr4:8441600-8443400	Active TSS	NHDF-Ad	bronchial
20	chr4:8441600-8443400	Active TSS	NHEK	skin
21	chr4:8441600-8443600	Active TSS	Fetal Intestine Small	intestine
22	chr4:8441600-8443800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:8441600-8443800	Active TSS	HSMM	muscle
24	chr4:8441600-8445000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:8441800-8443400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr4:8441800-8443400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:8441800-8443400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:8441800-8443400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8441800-8443400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:8441800-8443400	Active TSS	Aorta	Aorta
31	chr4:8441800-8443400	Active TSS	Esophagus	oesophagus
32	chr4:8441800-8443400	Active TSS	Fetal Lung	lung
33	chr4:8441800-8443400	Active TSS	Gastric	stomach
34	chr4:8441800-8443400	Active TSS	Left Ventricle	heart
35	chr4:8441800-8443400	Active TSS	Pancreas	Pancrea
36	chr4:8441800-8443600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:8441800-8443600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:8441800-8443800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr4:8441800-8443800	Active TSS	Fetal Intestine Large	intestine
40	chr4:8441800-8443800	Active TSS	Lung	lung
41	chr4:8441800-8444200	Active TSS	A549	lung
42	chr4:8441800-8444600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:8441800-8444600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:8442000-8443400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:8442000-8443400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:8442000-8443400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:8442000-8443400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:8442000-8443400	Active TSS	Small Intestine	intestine
49	chr4:8442000-8443400	Active TSS	Stomach Mucosa	stomach
50	chr4:8442000-8443400	Active TSS	NH-A	brain

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