Variant report

Variant	rs1032446
Chromosome Location	chr11:4721204-4721205
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	RUNX3	chr11:4720929-4721307	GM12878	blood:	n/a	n/a
2	BATF	chr11:4720952-4721308	GM12878	blood:	n/a	chr11:4721121-4721132 chr11:4721122-4721132
3	BHLHE40	chr11:4720909-4721365	GM12878	blood:	n/a	n/a
4	EP300	chr11:4720919-4721295	GM12878	blood:	n/a	n/a
5	EP300	chr11:4720927-4721293	GM12878	blood:	n/a	n/a
6	RCOR1	chr11:4720989-4721307	GM12878	blood:	n/a	n/a
7	IRF4	chr11:4720965-4721309	GM12878	blood:	n/a	n/a
8	BATF	chr11:4720966-4721312	GM12878	blood:	n/a	chr11:4721121-4721132 chr11:4721122-4721132
9	RUNX3	chr11:4720940-4721274	GM12878	blood:	n/a	n/a
10	EBF1	chr11:4720978-4721409	GM12878	blood:	n/a	n/a
11	JUND	chr11:4720916-4721307	GM12878	blood:	n/a	chr11:4721122-4721129 chr11:4721114-4721126 chr11:4721121-4721129
12	POU2F2	chr11:4720991-4721282	GM12891	blood:	n/a	n/a
13	JUND	chr11:4720811-4721316	GM12878	blood:	n/a	chr11:4721122-4721129 chr11:4721114-4721126 chr11:4721121-4721129
14	POU2F2	chr11:4720975-4721329	GM12878	blood:	n/a	n/a
15	EP300	chr11:4720956-4721282	GM12878	blood:	n/a	n/a
16	USF2	chr11:4720954-4721268	GM12878	blood:	n/a	n/a
17	IRF4	chr11:4720882-4721264	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MMP26	TF binding region
OR51E2	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1032448	0.93[JPT][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1032449	0.80[YRI][hapmap]
rs10768185	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10836500	0.84[ASN][1000 genomes]
rs11033368	0.90[YRI][hapmap]
rs11033409	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11033454	0.96[ASN][1000 genomes]
rs12222503	0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs12271916	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12277885	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12577711	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs1493743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1493745	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs1505210	0.96[YRI][hapmap]
rs1565762	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932124	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs16932578	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs16933260	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs16933304	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs16933308	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs16933600	0.92[JPT][hapmap]
rs1845362	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4331086	0.84[ASN][1000 genomes]
rs4382899	0.84[ASN][1000 genomes]
rs4432013	0.84[ASN][1000 genomes]
rs4436535	0.95[ASN][1000 genomes]
rs4463838	0.84[ASN][1000 genomes]
rs4465362	0.84[ASN][1000 genomes]
rs4471413	0.84[ASN][1000 genomes]
rs4619142	0.84[ASN][1000 genomes]
rs57437632	0.84[ASN][1000 genomes]
rs61681282	0.84[ASN][1000 genomes]
rs7108910	0.96[ASN][1000 genomes]
rs7112068	0.94[ASN][1000 genomes]
rs7112203	0.94[ASN][1000 genomes]
rs7123544	0.94[ASN][1000 genomes]
rs7478759	0.92[JPT][hapmap];0.84[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	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv896915	chr11:4659419-4844393	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv832056	chr11:4673001-4824890	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1046486	chr11:4697151-4741730	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
12	nsv896916	chr11:4712353-4806872	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv437699	chr11:4721204-4741954	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4719200-4725200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:4719400-4723200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:4721200-4721400	Flanking Active TSS	GM12878-XiMat	blood
4	chr11:4721200-4722000	Enhancers	Colon Smooth Muscle	Colon

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