Variant report

Variant	rs13439443
Chromosome Location	chr8:125283704-125283705
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	NFIC	chr8:125283503-125284200	SK-N-SH	brain:	n/a	n/a
2	JUND	chr8:125283298-125284752	SK-N-SH	brain:	n/a	chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
3	GATA3	chr8:125283502-125284763	SK-N-SH	brain:	n/a	n/a
4	EP300	chr8:125283606-125284732	Hela-S3	cervix:	n/a	chr8:125284179-125284188
5	SETDB1	chr8:125283663-125284569	U2OS	brain:	n/a	n/a
6	FOSL1	chr8:125283378-125284832	HCT-116	colon:	n/a	chr8:125283895-125283905 chr8:125283894-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
7	GTF2F1	chr8:125283387-125284727	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:125283603-125283715	A549	lung:	n/a	n/a
9	FOXA2	chr8:125283637-125284758	A549	lung:	n/a	chr8:125283829-125283841
10	POLR2A	chr8:125283333-125284783	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr8:125283396-125284102	MCF10A-Er-Src	breast:	n/a	n/a
12	ZKSCAN1	chr8:125283663-125284779	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr8:125283633-125284509	A549	lung:	n/a	n/a
14	GATA2	chr8:125283652-125284051	HUVEC	blood vessel:	n/a	n/a
15	TAF1	chr8:125283670-125284115	PFSK-1	brain:	n/a	n/a
16	JUN	chr8:125283605-125284033	K562	blood:	n/a	chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
17	POLR2A	chr8:125283603-125283706	A549	lung:	n/a	n/a
18	FOSL2	chr8:125283599-125283999	HepG2	liver:	n/a	chr8:125283814-125283825 chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
19	MAX	chr8:125283061-125284624	A549	lung:	n/a	chr8:125283297-125283308 chr8:125283296-125283311 chr8:125283896-125283905
20	GATA3	chr8:125283373-125285297	A549	lung:	n/a	n/a
21	TEAD4	chr8:125283533-125284794	A549	lung:	n/a	n/a
22	POLR2A	chr8:125283630-125284532	Hela-S3	cervix:	n/a	n/a
23	TCF7L2	chr8:125283681-125284667	Hela-S3	cervix:	n/a	chr8:125283895-125283904
24	TAF1	chr8:125283645-125284135	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr8:125283605-125284094	K562	blood:	n/a	n/a
26	FOS	chr8:125283633-125284654	MCF10A-Er-Src	breast:	n/a	chr8:125283894-125283905 chr8:125283815-125283826 chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
27	POLR2A	chr8:125283589-125284641	U87	brain:	n/a	n/a
28	ZBTB33	chr8:125283571-125284093	A549	lung:	n/a	n/a
29	TBP	chr8:125283660-125284818	Hela-S3	cervix:	n/a	n/a
30	YY1	chr8:125283629-125284472	A549	lung:	n/a	n/a
31	BCL3	chr8:125283453-125284859	A549	lung:	n/a	chr8:125283896-125283905 chr8:125284463-125284472
32	FOS	chr8:125283629-125284657	Hela-S3	cervix:	n/a	chr8:125283894-125283905 chr8:125283815-125283826 chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
33	RAD21	chr8:125283463-125284879	A549	lung:	n/a	chr8:125284351-125284361
34	RCOR1	chr8:125283689-125284055	K562	blood:	n/a	n/a
35	TCF12	chr8:125283565-125284637	A549	lung:	n/a	n/a
36	FOSL1	chr8:125283657-125284068	K562	blood:	n/a	chr8:125283895-125283905 chr8:125283894-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
37	SP1	chr8:125283387-125284862	HCT-116	colon:	n/a	chr8:125284351-125284365 chr8:125284805-125284812 chr8:125284355-125284364 chr8:125284354-125284366
38	EP300	chr8:125283295-125284932	A549	lung:	n/a	chr8:125284179-125284188
39	JUND	chr8:125283624-125284657	A549	lung:	n/a	chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
40	FOS	chr8:125283575-125284545	HUVEC	blood vessel:	n/a	chr8:125283894-125283905 chr8:125283815-125283826 chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
41	TEAD4	chr8:125283587-125284179	K562	blood:	n/a	n/a
42	SP1	chr8:125283130-125284899	A549	lung:	n/a	chr8:125284351-125284365 chr8:125284805-125284812 chr8:125284355-125284364 chr8:125284354-125284366
43	KAP1	chr8:125283512-125284755	HEK293	kidney:	n/a	n/a
44	RAD21	chr8:125283516-125284760	A549	lung:	n/a	chr8:125284351-125284361
45	USF1	chr8:125283632-125284078	A549	lung:	n/a	n/a
46	JUND	chr8:125283565-125284795	HCT-116	colon:	n/a	chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
47	TCF12	chr8:125281667-125285056	A549	lung:	n/a	n/a
48	MAX	chr8:125283222-125284660	Hela-S3	cervix:	n/a	chr8:125283297-125283308 chr8:125283296-125283311 chr8:125283896-125283905
49	FOXA1	chr8:125283665-125283958	HepG2	liver:	n/a	chr8:125283829-125283841
50	CBX3	chr8:125283507-125284769	HCT-116	colon:	n/a	chr8:125284602-125284613

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
2	chr8:125258129..125260887-chr8:125283574..125285765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	TF binding region
ENSG00000164983	Chromatin interaction
ENSG00000214803	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10087001	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10087062	0.81[CHB][hapmap]
rs10087137	0.81[CHB][hapmap]
rs10087222	0.81[CHB][hapmap]
rs10089870	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10092616	0.81[CHB][hapmap]
rs10099103	0.83[EUR][1000 genomes]
rs13439237	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs13439439	1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs16899475	0.85[CEU][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs17295226	0.81[CHB][hapmap]
rs17360690	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17360711	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17361004	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28371029	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4360277	0.81[CHB][hapmap]
rs4374970	0.81[CHB][hapmap]
rs4593526	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs4871476	0.81[CHB][hapmap]
rs4871480	0.81[CHB][hapmap]
rs4871481	0.81[CHB][hapmap]
rs4871482	0.81[CHB][hapmap]
rs4871483	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55764180	0.82[EUR][1000 genomes]
rs55932688	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55945711	0.81[ASN][1000 genomes]
rs56218959	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56234976	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56245645	0.83[EUR][1000 genomes]
rs60167901	0.81[ASN][1000 genomes]
rs66961607	0.84[ASN][1000 genomes]
rs67153514	0.85[ASN][1000 genomes]
rs67712436	0.83[ASN][1000 genomes]
rs68047305	0.83[ASN][1000 genomes]
rs6983392	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6984921	0.81[CHB][hapmap]
rs6986310	0.81[ASN][1000 genomes]
rs6988141	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003238	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011052	0.80[CHB][hapmap]
rs7011528	0.81[CHB][hapmap]
rs72719397	0.83[ASN][1000 genomes]
rs73330303	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73330304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73345110	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73345113	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73345158	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73345172	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73345176	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345185	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842882	0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297691	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs9297693	0.81[CHB][hapmap]
rs9969472	0.80[CHB][hapmap]
rs9969473	0.81[CHB][hapmap]
rs9969475	0.81[CHB][hapmap]
rs9969480	0.81[CHB][hapmap]
rs9969624	0.80[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13439443	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
2	chr8:125279400-125284000	Weak transcription	Right Ventricle	heart
3	chr8:125280400-125284000	Weak transcription	Pancreas	Pancrea
4	chr8:125280400-125284000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:125281200-125284400	Enhancers	Fetal Intestine Large	intestine
6	chr8:125281200-125284600	Enhancers	Psoas Muscle	Psoas
7	chr8:125281600-125284000	Enhancers	K562	blood
8	chr8:125281600-125284200	Weak transcription	Right Atrium	heart
9	chr8:125281600-125285000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:125281800-125283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125282000-125284000	Weak transcription	Fetal Heart	heart
12	chr8:125282000-125284200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr8:125282200-125284000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:125282200-125284400	Enhancers	Fetal Intestine Small	intestine
15	chr8:125282200-125285600	Enhancers	NHDF-Ad	bronchial
16	chr8:125282400-125284000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125282400-125284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:125282600-125284600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:125282800-125284400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:125282800-125284400	Enhancers	Left Ventricle	heart
21	chr8:125282800-125284400	Enhancers	HSMMtube	muscle
22	chr8:125282800-125284800	Enhancers	HUVEC	blood vessel
23	chr8:125282800-125285400	Flanking Active TSS	Hela-S3	cervix
24	chr8:125282800-125285400	Enhancers	NHLF	lung
25	chr8:125282800-125285600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:125283200-125284000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:125283200-125284400	Enhancers	Colon Smooth Muscle	Colon
28	chr8:125283200-125285000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:125283200-125285600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:125283400-125283800	Enhancers	Stomach Smooth Muscle	stomach
31	chr8:125283400-125284400	Enhancers	HMEC	breast
32	chr8:125283400-125284400	Enhancers	NHEK	skin
33	chr8:125283400-125284600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:125283400-125284600	Enhancers	HSMM	muscle
35	chr8:125283400-125285400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:125283600-125283800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:125283600-125283800	Flanking Active TSS	Osteobl	bone
38	chr8:125283600-125284000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:125283600-125284000	Active TSS	A549	lung
40	chr8:125283600-125284000	Enhancers	NH-A	brain
41	chr8:125283600-125284200	Enhancers	Fetal Stomach	stomach
42	chr8:125283600-125284400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:125283600-125284400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:125283600-125284400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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