Variant report

Variant	rs1404871
Chromosome Location	chr12:85410617-85410618
allele	A/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	GATA3	chr12:85410014-85410734	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr12:85410176-85410686	A549	lung:	n/a	n/a
3	FOS	chr12:85410150-85410776	MCF10A-Er-Src	breast:	n/a	chr12:85410392-85410403
4	CEBPB	chr12:85410265-85410632	A549	lung:	n/a	chr12:85410434-85410445
5	ATF3	chr12:85410094-85410618	HCT-116	colon:	n/a	n/a
6	STAT3	chr12:85410181-85410622	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:85410188-85413247	Hela-S3	cervix:	n/a	chr12:85410652-85410663 chr12:85410652-85410663 chr12:85410652-85410665 chr12:85410434-85410445
8	GATA3	chr12:85410118-85410698	SK-N-SH	brain:	n/a	n/a
9	SP1	chr12:85410146-85410743	HCT-116	colon:	n/a	n/a
10	FOS	chr12:85410092-85410645	MCF10A-Er-Src	breast:	n/a	chr12:85410392-85410403
11	FOSL2	chr12:85410076-85410711	SK-N-SH	brain:	n/a	n/a
12	SP1	chr12:85410190-85410686	A549	lung:	n/a	n/a
13	FOSL1	chr12:85410080-85410670	HCT-116	colon:	n/a	n/a
14	CEBPB	chr12:85410226-85410644	A549	lung:	n/a	chr12:85410434-85410445
15	JUND	chr12:85410144-85410750	HCT-116	colon:	n/a	chr12:85410392-85410403
16	JUND	chr12:85410189-85410691	HCT-116	colon:	n/a	chr12:85410392-85410403
17	JUND	chr12:85410110-85410652	SK-N-SH	brain:	n/a	chr12:85410392-85410403
18	CEBPB	chr12:85410234-85410656	IMR90	lung:	n/a	chr12:85410434-85410445
19	JUND	chr12:85410147-85412349	Hela-S3	cervix:	n/a	chr12:85410392-85410403
20	STAT3	chr12:85410263-85410664	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr12:85410063-85410690	SK-N-SH	brain:	n/a	chr12:85410650-85410664
22	PBX3	chr12:85410048-85410669	SK-N-SH	brain:	n/a	n/a
23	MAFK	chr12:85410262-85411266	Hela-S3	cervix:	n/a	n/a
24	NR3C1	chr12:85410260-85410664	A549	lung:	n/a	n/a
25	SP1	chr12:85410138-85410836	HCT-116	colon:	n/a	n/a
26	FOSL1	chr12:85410021-85410682	HCT-116	colon:	n/a	n/a
27	JUND	chr12:85410228-85410646	SK-N-SH	brain:	n/a	chr12:85410392-85410403
28	CEBPB	chr12:85410273-85410628	A549	lung:	n/a	chr12:85410434-85410445
29	FOSL2	chr12:85410146-85410621	SK-N-SH	brain:	n/a	n/a
30	CEBPB	chr12:85410021-85410782	HCT-116	colon:	n/a	chr12:85410652-85410663 chr12:85410652-85410663 chr12:85410652-85410665 chr12:85410434-85410445
31	FOS	chr12:85410122-85410630	MCF10A-Er-Src	breast:	n/a	chr12:85410392-85410403
32	JUND	chr12:85410039-85410691	SK-N-SH	brain:	n/a	chr12:85410392-85410403
33	CEBPB	chr12:85410219-85410678	HCT-116	colon:	n/a	chr12:85410652-85410663 chr12:85410652-85410663 chr12:85410652-85410665 chr12:85410434-85410445
34	JUN	chr12:85410188-85410703	Hela-S3	cervix:	n/a	chr12:85410435-85410448
35	STAT3	chr12:85410234-85410647	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr12:85410125-85410689	Hela-S3	cervix:	n/a	chr12:85410650-85410664
37	TCF12	chr12:85409987-85410662	SK-N-SH	brain:	n/a	n/a
38	STAT3	chr12:85410123-85410783	MCF10A-Er-Src	breast:	n/a	n/a
39	CBX3	chr12:85410130-85410695	HCT-116	colon:	n/a	n/a
40	FOS	chr12:85410145-85410645	HUVEC	blood vessel:	n/a	chr12:85410392-85410403

Variant related genes	Relation type
TSPAN19	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1031190	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12301980	0.85[EUR][1000 genomes]
rs12304556	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1494500	0.85[EUR][1000 genomes]
rs1494501	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1525548	0.85[EUR][1000 genomes]
rs1690835	0.81[ASN][1000 genomes]
rs1973816	0.85[EUR][1000 genomes]
rs2056638	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6539879	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6539881	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7132596	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7133817	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7316900	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7954110	0.85[EUR][1000 genomes]
rs7962411	0.85[EUR][1000 genomes]
rs7962577	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899377	chr12:85157346-85629241	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85408600-85418000	Enhancers	Hela-S3	cervix
2	chr12:85408800-85411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:85409000-85411000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:85409000-85412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:85409400-85411400	Enhancers	HMEC	breast
6	chr12:85409600-85411000	Enhancers	Brain Hippocampus Middle	brain
7	chr12:85409800-85411200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:85409800-85411400	Enhancers	NHDF-Ad	bronchial
9	chr12:85409800-85411400	Enhancers	NHEK	skin
10	chr12:85409800-85412000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:85410000-85411000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:85410200-85411000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:85410200-85411000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:85410200-85411000	Enhancers	Osteobl	bone
15	chr12:85410200-85411200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:85410200-85412000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:85410400-85410800	Active TSS	Brain Angular Gyrus	brain
18	chr12:85410400-85411000	Enhancers	HUVEC	blood vessel
19	chr12:85410600-85411000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:85410600-85411600	Enhancers	HSMM	muscle

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