Variant report

Variant	rs12222503
Chromosome Location	chr11:4725793-4725794
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	MAX	chr11:4725481-4725816	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr11:4725239-4726128	HEK293	kidney:	n/a	n/a
3	SP1	chr11:4725695-4726159	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr11:4725736-4726172	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr11:4725510-4726026	H1-hESC	embryonic stem cell:	n/a	chr11:4725963-4725974
6	SP1	chr11:4725718-4726068	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr11:4725603-4726073	H1-hESC	embryonic stem cell:	n/a	n/a
8	KAP1	chr11:4725245-4726098	U2OS	brain:	n/a	n/a
9	USF1	chr11:4725757-4726048	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr11:4725505-4725980	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBP	chr11:4725458-4726177	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr11:4725550-4726018	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MMP26	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1032446	0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs1032448	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10500613	0.86[JPT][hapmap]
rs10500615	0.84[JPT][hapmap]
rs10734440	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10768185	0.92[JPT][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10836500	0.87[ASN][1000 genomes]
rs11033409	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033454	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12271916	0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12577711	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1493743	0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs1493745	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1565762	0.97[ASN][1000 genomes]
rs16932124	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16932578	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16933260	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16933304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16933308	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16933600	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1845362	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4255531	0.81[ASN][1000 genomes]
rs4331086	0.86[ASN][1000 genomes]
rs4382899	0.87[ASN][1000 genomes]
rs4432013	0.86[ASN][1000 genomes]
rs4436535	0.97[ASN][1000 genomes]
rs4463838	0.87[ASN][1000 genomes]
rs4465362	0.87[ASN][1000 genomes]
rs4471413	0.86[ASN][1000 genomes]
rs4619142	0.86[ASN][1000 genomes]
rs57437632	0.87[ASN][1000 genomes]
rs61681282	0.87[ASN][1000 genomes]
rs7108910	0.98[ASN][1000 genomes]
rs7112068	0.96[ASN][1000 genomes]
rs7112203	0.96[ASN][1000 genomes]
rs7123544	0.96[ASN][1000 genomes]
rs7478759	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4724200-4726200	Enhancers	Rectal Smooth Muscle	rectum
2	chr11:4724400-4726200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr11:4724600-4726200	Enhancers	Colon Smooth Muscle	Colon
4	chr11:4724600-4726200	Enhancers	Fetal Muscle Leg	muscle
5	chr11:4724800-4725800	Enhancers	Fetal Stomach	stomach
6	chr11:4724800-4726800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr11:4725000-4726200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:4725200-4726000	Enhancers	Fetal Lung	lung
9	chr11:4725200-4726200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:4725200-4726200	Enhancers	Fetal Heart	heart
11	chr11:4725200-4726600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:4725200-4726800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:4725200-4726800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:4725400-4725800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:4725400-4725800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:4725400-4725800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:4725400-4725800	Flanking Active TSS	Fetal Kidney	kidney
18	chr11:4725400-4725800	Enhancers	Pancreas	Pancrea
19	chr11:4725400-4726000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:4725400-4726200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:4725400-4726200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:4725400-4726200	Enhancers	Ovary	ovary
23	chr11:4725400-4726400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:4725400-4726400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:4725400-4726600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:4725600-4725800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:4725600-4726200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:4725600-4726200	Enhancers	Psoas Muscle	Psoas
29	chr11:4725600-4726200	Enhancers	HSMMtube	muscle
30	chr11:4725600-4726400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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