Variant report

Variant	rs4597032
Chromosome Location	chr11:93926587-93926588
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	FOSL1	chr11:93926381-93926921	HCT-116	colon:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
2	NFIC	chr11:93926278-93927093	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr11:93926479-93926802	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr11:93926446-93926903	SK-N-SH	brain:	n/a	n/a
5	EP300	chr11:93926409-93926848	SK-N-SH_RA	brain:	n/a	chr11:93926702-93926711
6	JUND	chr11:93926522-93926790	HepG2	liver:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
7	POLR2A	chr11:93926359-93926789	U87	brain:	n/a	n/a
8	FOSL2	chr11:93926319-93926984	A549	lung:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926375-93926386 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
9	FOSL1	chr11:93926449-93927005	HCT-116	colon:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
10	FOSL2	chr11:93926492-93926813	HepG2	liver:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
11	GATA3	chr11:93926308-93927028	SK-N-SH	brain:	n/a	n/a
12	JUND	chr11:93926568-93926789	HepG2	liver:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
13	NFIC	chr11:93926408-93926992	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:93926365-93926789	U87	brain:	n/a	n/a
15	FOS	chr11:93926448-93926999	MCF10A-Er-Src	breast:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926623-93926634 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
16	MYC	chr11:93926478-93926814	MCF10A-Er-Src	breast:	n/a	n/a
17	TEAD4	chr11:93926464-93926933	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr11:93926389-93926910	SK-N-SH	brain:	n/a	n/a
19	STAT3	chr11:93926535-93926875	MCF10A-Er-Src	breast:	n/a	chr11:93926703-93926712
20	EP300	chr11:93926422-93926796	SK-N-SH_RA	brain:	n/a	chr11:93926702-93926711
21	JUND	chr11:93925973-93927042	SK-N-SH	brain:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926375-93926386 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
22	FOSL2	chr11:93926331-93927024	SK-N-SH	brain:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926375-93926386 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
23	STAT3	chr11:93926571-93926870	MCF10A-Er-Src	breast:	n/a	chr11:93926703-93926712
24	FOS	chr11:93926454-93926945	MCF10A-Er-Src	breast:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926623-93926634 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
25	PBX3	chr11:93926410-93926927	SK-N-SH	brain:	n/a	n/a
26	JUND	chr11:93926248-93926996	SK-N-SH	brain:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926375-93926386 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
27	FOS	chr11:93926486-93927141	MCF10A-Er-Src	breast:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926623-93926634 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
28	EP300	chr11:93926310-93927069	SK-N-SH	brain:	n/a	chr11:93926946-93926960 chr11:93926702-93926711
29	JUND	chr11:93926394-93927036	HCT-116	colon:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
30	FOSL2	chr11:93926484-93926918	HepG2	liver:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
31	JUND	chr11:93926392-93927023	SK-N-SH	brain:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
32	TCF12	chr11:93926429-93926904	A549	lung:	n/a	n/a
33	RXRA	chr11:93926327-93927003	SK-N-SH	brain:	n/a	chr11:93926702-93926711
34	TCF12	chr11:93926313-93927027	SK-N-SH	brain:	n/a	n/a
35	FOS	chr11:93926454-93926884	HUVEC	blood vessel:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926623-93926634 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
36	FOSL2	chr11:93926468-93926864	A549	lung:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
37	CEBPB	chr11:93926511-93926824	IMR90	lung:	n/a	n/a
38	FOS	chr11:93926439-93926945	MCF10A-Er-Src	breast:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926623-93926634 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
39	TCF12	chr11:93926280-93927030	SK-N-SH	brain:	n/a	n/a
40	MYC	chr11:93926459-93926831	MCF10A-Er-Src	breast:	n/a	chr11:93926463-93926473 chr11:93926462-93926472
41	JUND	chr11:93926347-93926916	HCT-116	colon:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926375-93926386 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
42	MAX	chr11:93926375-93926909	A549	lung:	n/a	chr11:93926463-93926473 chr11:93926462-93926472
43	FOSL2	chr11:93926346-93927004	SK-N-SH	brain:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926375-93926386 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
44	RXRA	chr11:93926433-93926941	SK-N-SH	brain:	n/a	chr11:93926702-93926711
45	GATA3	chr11:93926298-93927027	SK-N-SH	brain:	n/a	n/a
46	JUND	chr11:93926402-93926782	A549	lung:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
47	JUND	chr11:93926532-93926881	A549	lung:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926701-93926712 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712

Variant related genes	Relation type
ENSG00000256745	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1014499	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10458852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10765657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10765660	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10831169	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10831173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10831174	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10831175	0.82[AMR][1000 genomes]
rs10831176	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10831184	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020679	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11020703	0.91[EUR][1000 genomes]
rs11020719	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12362988	0.82[AMR][1000 genomes]
rs12366039	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12792677	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12808853	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1361929	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1541301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920039	0.95[EUR][1000 genomes]
rs1789652	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792632	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833063	0.82[AMR][1000 genomes]
rs1857680	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944436	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2000956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2156627	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3020004	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3020016	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4753131	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753132	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753548	0.82[AMR][1000 genomes]
rs4753569	0.85[AMR][1000 genomes]
rs480710	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs526036	0.80[AMR][1000 genomes]
rs561807	0.80[AMR][1000 genomes]
rs581771	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs613234	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs655358	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs657896	0.80[AMR][1000 genomes]
rs689315	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7118270	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7927338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7927496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936241	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs871244	0.82[AMR][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	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1038294	chr11:93918837-93982605	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4597032	RP11-680H20.2	cis	Artery Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93913600-93929400	Weak transcription	Gastric	stomach
2	chr11:93915600-93929400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:93917600-93934200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:93920000-93926600	Weak transcription	Fetal Brain Female	brain
5	chr11:93920200-93928000	Weak transcription	HSMMtube	muscle
6	chr11:93920400-93929400	Weak transcription	Pancreas	Pancrea
7	chr11:93920400-93933000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:93920400-93937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:93920600-93926600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:93920600-93927800	Weak transcription	Aorta	Aorta
11	chr11:93925600-93927000	Enhancers	NHDF-Ad	bronchial
12	chr11:93925600-93927200	Enhancers	A549	lung
13	chr11:93925600-93927200	Enhancers	NHLF	lung
14	chr11:93925600-93927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:93925800-93928600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:93926000-93926800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:93926000-93926800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:93926000-93927000	Enhancers	NH-A	brain
19	chr11:93926000-93927400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:93926200-93926600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:93926200-93926600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:93926200-93926600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:93926200-93926600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:93926200-93926800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:93926200-93927000	Enhancers	NHEK	skin
26	chr11:93926200-93927400	Enhancers	HMEC	breast
27	chr11:93926400-93926600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:93926400-93927000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:93926400-93927000	Enhancers	Osteobl	bone

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