Variant report

Variant	rs34113862
Chromosome Location	chr2:48860616-48860617
allele	C/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	CEBPD	chr2:48860224-48860663	K562	blood:	n/a	n/a
2	POLR2A	chr2:48860356-48860653	K562	blood:	n/a	n/a
3	GABPA	chr2:48860392-48860634	K562	blood:	n/a	n/a
4	CCNT2	chr2:48860293-48860625	K562	blood:	n/a	n/a
5	EGR1	chr2:48860430-48860684	K562	blood:	n/a	n/a
6	EGR1	chr2:48860392-48860681	K562	blood:	n/a	n/a
7	JUND	chr2:48860459-48860631	K562	blood:	n/a	n/a
8	TEAD4	chr2:48860185-48860844	K562	blood:	n/a	n/a
9	PML	chr2:48860237-48860742	K562	blood:	n/a	n/a
10	TEAD4	chr2:48860268-48860754	K562	blood:	n/a	n/a
11	RCOR1	chr2:48860336-48860681	K562	blood:	n/a	n/a
12	TAL1	chr2:48860343-48860659	K562	blood:	n/a	n/a
13	MYC	chr2:48860444-48860796	K562	blood:	n/a	n/a
14	EP300	chr2:48860367-48860629	K562	blood:	n/a	n/a
15	GATA2	chr2:48860299-48860659	K562	blood:	n/a	n/a
16	CEBPD	chr2:48860331-48860701	K562	blood:	n/a	n/a

Variant related genes	Relation type
TPT1P11	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12988176	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12992968	0.97[EUR][1000 genomes]
rs12994052	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13002836	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13005234	0.81[EUR][1000 genomes]
rs13005426	0.81[EUR][1000 genomes]
rs13007220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13015658	0.93[EUR][1000 genomes]
rs13017672	0.90[EUR][1000 genomes]
rs13021383	0.85[EUR][1000 genomes]
rs13021781	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13022990	0.93[EUR][1000 genomes]
rs13023337	0.91[EUR][1000 genomes]
rs13028463	0.93[EUR][1000 genomes]
rs13029396	0.84[EUR][1000 genomes]
rs1404057	0.83[AMR][1000 genomes]
rs17398156	0.90[EUR][1000 genomes]
rs1880258	0.83[AMR][1000 genomes]
rs34156631	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34290007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34328825	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34473191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34625949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34640290	0.83[EUR][1000 genomes]
rs34764604	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34793022	0.89[EUR][1000 genomes]
rs34889436	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35139260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35143434	0.91[EUR][1000 genomes]
rs35241494	0.90[EUR][1000 genomes]
rs35258848	0.82[EUR][1000 genomes]
rs35269604	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35372579	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35446259	0.93[EUR][1000 genomes]
rs35518129	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35606429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35659772	0.90[EUR][1000 genomes]
rs35803851	0.83[EUR][1000 genomes]
rs35895384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35933416	0.83[EUR][1000 genomes]
rs35979740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35994162	0.88[EUR][1000 genomes]
rs55824140	0.93[EUR][1000 genomes]
rs55957451	0.92[EUR][1000 genomes]
rs56038740	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56086985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56141700	0.83[EUR][1000 genomes]
rs58662479	0.86[EUR][1000 genomes]
rs6545053	0.93[EUR][1000 genomes]
rs66991447	0.90[EUR][1000 genomes]
rs67628224	0.93[EUR][1000 genomes]
rs72806160	0.83[EUR][1000 genomes]
rs7569645	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7592776	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv874004	chr2:48838955-48904550	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2762553	chr2:48843520-48863842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv2719	chr2:48847455-48867113	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1815803	chr2:48848295-48870365	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv1820502	chr2:48850299-48873662	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv1798331	chr2:48851247-48873662	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv1797398	chr2:48851820-48870365	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv1821282	chr2:48851820-48870365	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48836600-48862000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:48854000-48873600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:48860000-48862000	Weak transcription	Ovary	ovary
4	chr2:48860600-48862000	Weak transcription	Lung	lung
5	chr2:48860600-48863000	Weak transcription	Right Atrium	heart

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