Variant report

Variant	rs552312
Chromosome Location	chr11:65477349-65477350
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	MXI1	chr11:65477309-65477554	K562	blood:	n/a	n/a
2	SRF	chr11:65477283-65477610	K562	blood:	n/a	chr11:65477419-65477437
3	ZNF384	chr11:65477335-65477681	K562	blood:	n/a	n/a
4	SRF	chr11:65477115-65477613	ECC-1	luminal epithelium:	n/a	chr11:65477419-65477437
5	SRF	chr11:65477158-65477700	MCF-7	breast:	n/a	chr11:65477419-65477437
6	SRF	chr11:65477107-65477630	MCF-7	breast:	n/a	chr11:65477419-65477437
7	JUND	chr11:65477216-65477429	K562	blood:	n/a	n/a
8	SRF	chr11:65477300-65477477	GM12878	blood:	n/a	chr11:65477419-65477437
9	ELK1	chr11:65477287-65477522	GM12878	blood:	n/a	n/a
10	SRF	chr11:65477305-65477498	GM12878	blood:	n/a	chr11:65477419-65477437
11	SRF	chr11:65477132-65477577	ECC-1	luminal epithelium:	n/a	chr11:65477419-65477437
12	ELK1	chr11:65477217-65477591	K562	blood:	n/a	n/a
13	SRF	chr11:65477295-65477489	HepG2	liver:	n/a	chr11:65477419-65477437
14	TEAD4	chr11:65477006-65477453	K562	blood:	n/a	n/a
15	SRF	chr11:65477060-65477576	HCT-116	colon:	n/a	chr11:65477419-65477437
16	ELK4	chr11:65477296-65477557	Hela-S3	cervix:	n/a	chr11:65477403-65477414
17	SRF	chr11:65477289-65477539	K562	blood:	n/a	chr11:65477419-65477437
18	SRF	chr11:65477293-65477491	GM12878	blood:	n/a	chr11:65477419-65477437
19	ELK1	chr11:65477279-65477479	Hela-S3	cervix:	n/a	n/a
20	SRF	chr11:65477295-65477531	HepG2	liver:	n/a	chr11:65477419-65477437
21	ELK4	chr11:65477218-65477566	HEK293	kidney:	n/a	chr11:65477403-65477414
22	SRF	chr11:65477171-65477598	H1-hESC	embryonic stem cell:	n/a	chr11:65477419-65477437

No.	Distal block	Cell Line	Cell type
1	chr11:65419108..65420817-chr11:65475348..65477969,2	MCF-7	breast:
2	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
3	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:
4	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
5	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
6	chr11:65474304..65478106-chr11:65478345..65481541,4	MCF-7	breast:
7	chr11:65473736..65477583-chr11:65477783..65481532,7	MCF-7	breast:
8	chr11:65475839..65477633-chr11:65477789..65480008,2	K562	blood:
9	chr11:65477139..65479296-chr11:65581106..65583170,2	K562	blood:
10	chr11:65471574..65474478-chr11:65475750..65478986,4	K562	blood:

Variant related genes	Relation type
KAT5	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172500	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1108922	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1151500	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151501	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509946	0.92[AFR][1000 genomes]
rs2510030	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs487264	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488170	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930298	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs534414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555903	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796623	0.84[EUR][1000 genomes]
rs563427	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565267	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645621	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680948	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939198	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription 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 miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65468200-65478600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:65474200-65478000	Weak transcription	Dnd41	blood
3	chr11:65474200-65478400	Weak transcription	Colonic Mucosa	Colon
4	chr11:65474200-65478400	Weak transcription	Fetal Brain Female	brain
5	chr11:65474200-65478400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:65474200-65478600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:65474200-65478600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:65474200-65478600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65474200-65478600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:65474200-65478600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:65474200-65478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:65474200-65478600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:65474200-65478600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:65474200-65478600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:65474200-65478600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:65474200-65478600	Weak transcription	GM12878-XiMat	blood
17	chr11:65474400-65477800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:65474400-65478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:65474400-65478600	Weak transcription	Primary B cells from cord blood	blood
20	chr11:65474400-65478600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:65474400-65478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:65474400-65478600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:65474400-65478600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:65474400-65478600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:65474800-65478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:65475000-65478400	Weak transcription	Fetal Thymus	thymus
27	chr11:65475000-65478600	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:65476000-65478000	Weak transcription	A549	lung
29	chr11:65476200-65478800	Enhancers	Placenta	Placenta
30	chr11:65476400-65477600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65476400-65478800	Enhancers	Fetal Intestine Large	intestine
32	chr11:65476800-65478800	Enhancers	K562	blood
33	chr11:65477000-65478800	Enhancers	Fetal Intestine Small	intestine
34	chr11:65477200-65477400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:65477200-65477600	Enhancers	Duodenum Mucosa	Duodenum
36	chr11:65477200-65477600	Enhancers	Stomach Mucosa	stomach
37	chr11:65477200-65479000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:65477200-65479000	Enhancers	NHDF-Ad	bronchial

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