Variant report

Variant	rs999902
Chromosome Location	chr10:91927736-91927737
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	NFATC1	chr10:91927350-91927840	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:91927556-91927750	IMR90	lung:	n/a	n/a
3	ATF2	chr10:91927400-91927804	GM12878	blood:	n/a	n/a
4	NFATC1	chr10:91927355-91927824	GM12878	blood:	n/a	n/a
5	MEF2C	chr10:91927290-91927781	GM12878	blood:	n/a	chr10:91927619-91927627 chr10:91927475-91927490
6	RELA	chr10:91926933-91927742	GM18505	blood:	n/a	chr10:91927095-91927104 chr10:91927095-91927104
7	MEF2A	chr10:91926840-91927765	GM12878	blood:	n/a	chr10:91926961-91926970 chr10:91926958-91926973 chr10:91926954-91926975 chr10:91926959-91926973 chr10:91926960-91926971 chr10:91927619-91927627 chr10:91926954-91926975 chr10:91927475-91927490 chr10:91926954-91926975
8	MEF2A	chr10:91927246-91927821	GM12878	blood:	n/a	chr10:91927619-91927627 chr10:91927475-91927490
9	IRF4	chr10:91927435-91927840	GM12878	blood:	n/a	n/a
10	STAT5A	chr10:91927459-91927758	GM12878	blood:	n/a	n/a
11	CEBPB	chr10:91927487-91927750	Hela-S3	cervix:	n/a	chr10:91927539-91927550
12	FOS	chr10:91927435-91928329	MCF10A-Er-Src	breast:	n/a	chr10:91928204-91928212 chr10:91927619-91927628 chr10:91928204-91928212 chr10:91928203-91928214 chr10:91928204-91928211
13	FOXM1	chr10:91926920-91927824	GM12878	blood:	n/a	n/a
14	FOS	chr10:91927333-91927830	MCF10A-Er-Src	breast:	n/a	chr10:91927619-91927628
15	NFIC	chr10:91926811-91927869	GM12878	blood:	n/a	n/a
16	RELA	chr10:91926940-91927768	GM12891	blood:	n/a	chr10:91927095-91927104 chr10:91927095-91927104
17	FOS	chr10:91927392-91927821	MCF10A-Er-Src	breast:	n/a	chr10:91927619-91927628
18	MTA3	chr10:91927448-91927851	GM12878	blood:	n/a	n/a
19	EP300	chr10:91927508-91927736	GM12878	blood:	n/a	chr10:91927605-91927619 chr10:91927618-91927627
20	BCL11A	chr10:91927479-91927794	GM12878	blood:	n/a	n/a
21	MYC	chr10:91927486-91927781	MCF10A-Er-Src	breast:	n/a	chr10:91927635-91927644
22	NFIC	chr10:91927332-91927860	GM12878	blood:	n/a	n/a
23	RUNX3	chr10:91927401-91927787	GM12878	blood:	n/a	n/a
24	RELA	chr10:91926933-91927763	GM12892	blood:	n/a	chr10:91927095-91927104 chr10:91927095-91927104
25	MTA3	chr10:91926953-91927791	GM12878	blood:	n/a	n/a
26	STAT3	chr10:91927466-91928388	MCF10A-Er-Src	breast:	n/a	chr10:91927918-91927929
27	EP300	chr10:91927541-91927765	GM12878	blood:	n/a	chr10:91927605-91927619 chr10:91927618-91927627
28	BATF	chr10:91927387-91927750	GM12878	blood:	n/a	n/a
29	IKZF1	chr10:91927035-91927774	GM12878	blood:	n/a	n/a
30	ATF2	chr10:91927258-91927862	GM12878	blood:	n/a	n/a
31	FOS	chr10:91927384-91928372	MCF10A-Er-Src	breast:	n/a	chr10:91928204-91928212 chr10:91927619-91927628 chr10:91928204-91928212 chr10:91928203-91928214 chr10:91928204-91928211
32	BATF	chr10:91927485-91927777	GM12878	blood:	n/a	n/a
33	RELA	chr10:91926918-91927742	GM12878	blood:	n/a	chr10:91927095-91927104 chr10:91927095-91927104
34	CEBPB	chr10:91927401-91927883	HCT-116	colon:	n/a	chr10:91927539-91927550
35	BCL3	chr10:91927465-91927749	GM12878	blood:	n/a	n/a
36	STAT3	chr10:91927468-91927811	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr10:91927505-91927750	MCF10A-Er-Src	breast:	n/a	chr10:91927635-91927644
38	RUNX3	chr10:91926841-91927791	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RN7SKP143	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10509595	0.88[ASN][1000 genomes]
rs1329154	0.89[ASN][1000 genomes]
rs17091255	0.92[ASN][1000 genomes]
rs17091258	0.93[ASN][1000 genomes]
rs17091272	0.97[ASN][1000 genomes]
rs17091294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17091368	0.98[ASN][1000 genomes]
rs17091442	0.88[ASN][1000 genomes]
rs6583692	0.93[JPT][hapmap]
rs73381489	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs750910	0.89[ASN][1000 genomes]
rs750911	0.90[ASN][1000 genomes]
rs7906849	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911825	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs985602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs985603	0.87[JPT][hapmap]
rs985604	0.93[JPT][hapmap]
rs999901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv949678	chr10:91589048-92016474	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv895883	chr10:91610601-92195828	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1039731	chr10:91645718-92198264	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv540743	chr10:91645718-92198264	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv467430	chr10:91681344-92297943	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv551875	chr10:91681344-92297943	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv895884	chr10:91861413-91959144	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3375393	chr10:91880933-92243227	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv895885	chr10:91912493-91988922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv467431	chr10:91922383-91942219	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv551878	chr10:91922383-91942219	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91923800-91935000	Weak transcription	Esophagus	oesophagus
2	chr10:91924000-91930800	Weak transcription	Primary B cells from cord blood	blood
3	chr10:91924400-91928000	Weak transcription	NHLF	lung
4	chr10:91927000-91927800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:91927000-91927800	Enhancers	Osteobl	bone
6	chr10:91927000-91928200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:91927000-91928200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:91927200-91928400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:91927400-91928200	Enhancers	HMEC	breast
10	chr10:91927600-91927800	Flanking Active TSS	GM12878-XiMat	blood

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